Celiac disease

Definition

Celiac disease is a disease of the digestive system in which the inside lining of the small intestine (mucosa) is damaged after eating wheat, rye, oats, or barley, resulting in interference with the absorption of nutrients from food.

Description

Celiac disease occurs when the body reacts abnormally to gluten, a protein found in grains, including wheat, rye, barley, and possibly oats. When someone with celiac disease eats foods containing gluten, that person's immune system causes an inflammatory response in the small intestine, which damages the tissues and results in impaired ability to absorb nutrients from foods (malabsorption). The inflammation and malabsorption create wide-ranging problems in many systems of the body. Since the body's own immune system causes the damage, celiac disease is classified as an autoimmune disorder.

Each person with celiac disease is affected differently. When food containing gluten reaches the small intestine, the immune system begins to attack a substance called gliadin, which is found in the gluten. The resulting inflammation causes damage to the delicate finger-like structures in the intestine, called villi, where food absorption actually takes place. This damage is referred to as villus atrophy. The patient may experience a number of symptoms related to the inflammation and the chemicals it releases, and/or the lack of ability to absorb nutrients from food, which can cause malnutrition .

Celiac disease is also called sprue, nontropical sprue, gluten sensitive enteropathy, and celiac sprue.

Demographics

Celiac disease may be discovered at any age, from infancy through adulthood. The disorder is more commonly found among white Europeans and in people of European descent. It is very unusual to find celiac disease in African or Asian people. The exact incidence of the disease is uncertain. Estimates vary from one in 5,000, to as many as one in every 300 individuals with this background. The prevalence of celiac disease seems to be different from one European country to another and between Europe and the United States. This discrepancy may be due to differences in diet and/or the possibility that the disease goes unrecognized in some areas. One study of random blood samples tested for celiac disease in the United States showed one in 250 testing positive. It is clearly underdiagnosed, probably because the symptoms are attributed to another problem, and physicians and laboratory technicians lack knowledge about celiac disease.

Because celiac disease has a hereditary influence or genetic component, close relatives (especially first-degree relatives, such as children, siblings, and parents) have a higher risk of being affected with the condition. The chance that a first-degree relative of someone with celiac disease has the disease is about 10 percent.

Causes and symptoms

The pattern of inheritance is complicated regarding this disease. The type of inheritance pattern that celiac disease follows is called multifactorial (caused by many factors, both genetic and environmental). Researchers think that several factors must exist in order for the disease to occur. The patient must have a genetic predisposition to develop the disorder. Then something in their environment acts as a stimulus, or trigger, to their immune system, causing the disease to become active for the first time. For conditions with multifactorial inheritance, people without the genetic predisposition are less likely to develop the condition with exposure to the same triggers, or they may require more exposure to the stimulus before developing the disease than someone with a genetic predisposition. Stimuli that may provoke a reaction include surgery, especially gastrointestinal surgery; a change to a low fat diet, which includes an increased number of wheat-based foods; severe emotional stress; or a viral infection. The combination of genetic susceptibility and an outside agent leads to celiac disease.

The most commonly recognized symptoms of celiac disease relate to the improper absorption of food in the gastrointestinal system. Many patients with gastrointestinal symptoms will have diarrhea and fatty, greasy, unusually foul-smelling stools. The patient may complain of excessive gas (flatulence), distended abdomen, weight loss, and generalized weakness. Not all people have digestive system complications; some people only have irritability or depression. Irritability is one of the most common symptoms in children with celiac disease.

Not all individuals with celiac disease exhibit typical symptoms. As more is learned about celiac disease, it has become evident that the disease has many variations that may not produce typical symptoms. Unrecognized and therefore untreated celiac disease may cause or contribute to a variety of other conditions. The decreased ability to digest, absorb, and utilize food properly (malabsorption) may cause anemia (low red blood count from iron deficiency) or easy bruising from a lack of vitamin K. Poor mineral absorption may result in osteoporosis, or brittle bones, which may lead to bone fractures . Vitamin D levels may be insufficient and bring about a softening of bones (osteomalacia), which produces pain and bony deformities, such as flattening or bending. Defects in the tooth enamel, characteristic of celiac disease, may be recognized by dentists. Celiac disease may be discovered during medical tests performed to investigate failure to thrive in infants or lack of proper growth in children and adolescents. People with celiac disease may also experience lactose intolerance because they do not produce enough of the enzyme lactase, which breaks down the sugar in milk into a form the body can absorb. Other symptoms can include muscle cramps , fatigue, delayed growth, tingling or numbness in the legs (from nerve damage), pale sores in the mouth (called aphthus ulcers), tooth discoloration, or missed menstrual periods (due to severe weight loss).

A distinctive, painful skin rash, called dermatitis herpetiformis, may be the first sign of celiac disease in adults but rarely occurs in children with celiac disease.

Many disorders are associated with celiac disease, although the nature of the connection is unclear. One type of epilepsy is linked to celiac disease. Once their celiac disease is successfully treated, a significant number of these patients have fewer or no seizures. Patients with alopecia areata, a condition in which hair loss occurs in sharply defined areas, have been shown to have a higher risk of celiac disease than the general population. There appears to be a higher percentage of celiac disease among people with Down syndrome , but the link between the conditions was unknown as of 2004.

Several conditions attributed to a disorder of the immune system have been associated with celiac disease. People with insulin-dependent diabetes (type I) have a much higher incidence of celiac disease. One source estimates that as many as one in 20 insulin-dependent diabetics may have celiac disease. Patients with other conditions in which celiac disease may be more commonly found include those with juvenile chronic arthritis, some thyroid diseases, and IgA deficiency.

There is an increased risk of intestinal lymphoma, a type of cancer , in individuals with celiac disease. Successful treatment of the celiac disease seems to decrease the chance of developing lymphoma.

When to call the doctor

A doctor should be consulted when a child exhibits symptoms characteristic of this disease.

Diagnosis

Because of the variety of ways celiac disease can manifest itself, it is often not discovered promptly. Its symptoms are similar to many other conditions including irritable bowel syndrome , Crohn's disease, ulcerative colitis, diverticulosis, intestinal infections, chronic fatigue syndrome, and depression. The condition may persist without diagnosis for so long that the patient accepts a general feeling of illness as normal. This acceptance leads to further delay in identifying and treating the disorder. It is not unusual for the disease to be identified in the course of medical investigations for seemingly unrelated problems.

If celiac disease is suspected, based on symptoms, physical appearance, or delayed growth, a blood test should be ordered. This test looks for the antibodies to gluten (called antigliadin, anti-endomysium, and antireticulin) that the immune system produces in celiac disease. Antibodies are chemicals produced by the immune system in response to substances such as germs and other potentially harmful substances. Some experts advocate not just evaluating patients with symptoms, but using these blood studies as a screening test for high-risk individuals, such as those with relatives (especially first-degree relatives) known to have the disorder. An abnormal result points toward celiac disease, but further tests are needed to confirm the diagnosis. Because celiac disease affects the ability of the body to absorb nutrients from food, several tests may be ordered to look for nutritional deficiencies. For example, doctors may order a test of iron levels in the blood because low levels of iron (anemia) may accompany celiac disease. Doctors may also order a test for fat in the stool, since celiac disease prevents the body from absorbing fat from food.

If these tests are suspicious for celiac disease, the next step is a biopsy (surgical removal of a tiny piece of tissue) of the small intestine. This is usually done by a gastroenterologist, a physician who specializes in diagnosing and treating bowel disorders. It is generally performed in the office or in a hospital's outpatient department. The patient remains awake but is sedated. A narrow tube, called an endoscope, is passed through the mouth, down through the stomach, and into the small intestine. A small sample of tissue is taken and sent to the laboratory for analysis. If it shows a pattern of tissue damage characteristic of celiac disease, the diagnosis is established.

Treatment

The only treatment for celiac disease is a gluten-free diet (GFD). This diet is easy for the doctor to prescribe but may be difficult for a child to follow. For most people, adhering to this diet stops symptoms and prevents damage to the intestines. Damaged villi can be functional again in three to six months. This diet must be followed permanently, however. The fact that people had symptoms that were cured by the GFD is further evidence that the diagnosis was correct.

The physician will periodically recheck the level of antibody in the child's blood. After several months, the small intestine is biopsied again. If the diagnosis of celiac disease was correct (and the child followed the rigorous diet), healing of the intestine will be apparent. Most experts agree that it is necessary to follow these steps in order to be sure of an accurate diagnosis. Disorders other than celiac disease can cause a similar type of villus atrophy, especially in children under two years of age, so rechecking the intestine is especially important for very young children. If healing is evident, then gluten is reintroduced to the diet and a third biopsy is performed weeks to months later to see if the reintroduction of gluten results in villus atropy again. If the atrophy returns, the child has celiac disease, and a gluten-free diet should be continued for life.

A child with undiagnosed celiac disease may become very ill with severe diarrhea and malnutrition. Corticosteroids such as prednisone and intravenous (IV) fluids may be temporarily given while the child begins a GFD. Because celiac disease is diagnosed more quickly than in the past, corticosteroids are seldom required.

Nutritional concerns

Although there is no risk and much potential benefit to the use of GFD for treatment of celiac disease, the widespread use of gluten-containing grains in Western cultures makes adapting to a gluten-free diet challenging. Gluten is present in any product that contains wheat, rye, barley, or oats. It helps make bread rise and gives many foods a smooth, pleasing texture. In addition to the many obvious places gluten can be found in a normal diet, such as breads, cereals, and pasta, there are many hidden sources of gluten. Thickening agents, emulsifiers, fillers, flavor enhancers, and food stabilizers as well as products used in food packaging may contain gluten. Gluten may even be present on surfaces used for food preparation or cooking.

Fresh foods that have not been artificially processed, such as fruits, vegetables, and meats, are permitted as part of a GFD. Gluten-free foods can be found in health food stores and in some supermarkets. Mail-order food companies often have a selection of gluten-free products. Help in dietary planning is available from dieticians (healthcare professionals specializing in food and nutrition ) or from support groups for individuals with celiac disease. There are many cookbooks on the market specifically for those on a GFD.

Prognosis

Treating celiac disease with a strict GFD is almost always completely effective. Gastrointestinal complaints and other symptoms are alleviated. Secondary complications, such as anemia and osteoporosis, resolve in almost all patients. People who have experienced lactose intolerance related to their celiac disease usually see those symptoms subside as well.

Once the diet has been followed for several years, individuals with celiac disease have similar mortality rates as the general population. However, about 10 percent of people with celiac disease develop a cancer involving the gastrointestinal tract (both carcinoma and lymphoma).

A few patients develop a refractory type of celiac disease, in which the GFD no longer seems effective. Once the diet has been thoroughly assessed to ensure no hidden sources of gluten are causing the problem, medications may be prescribed. Steroids or immunosuppressant drugs are often used to try to control the disease. It is unclear whether these efforts meet with much success.

Experts emphasize the need for lifelong adherence to the GFD to avoid the long-term complications of this disorder. They point out that although the disease may have symptom-free periods if the diet is not followed, silent damage continues to occur. Celiac disease cannot be outgrown or cured, according to medical authorities.

Prevention

There is no way to prevent celiac disease. However, the key to decreasing its impact on overall health is early diagnosis and strict adherence to the prescribed GFD.

Parental concerns

For parents used to preparing gluten-containing meals, searching for and cooking with gluten-free products may be difficult at first. Changing cooking habits will be easier if initially gluten-free recipes and food products are used. When they use any commercial food products, they must read carefully the list of ingredients. Although ingredients are listed in order of decreasing content, any product containing the smallest of amount of gluten must be avoided. Many food manufacturers are willing to provide additional information about their products. Most food labels contain addresses of the manufacturers and many include a toll-free telephone number. Some restaurants have ingredient lists for their products posted in the restaurant or available on request.

When a child with celiac disease eats at a friend's house, the friend's parent should be aware of the child's dietary limitations. The child may have to take lunch from home to eat at school, unless the school has a dietician who can ensure that gluten-free food is provided for the child.

Family support is important in ensuring acceptance of the diet. The child must not be made to feel that he/she is abnormal and a nuisance to the family. After the GFD is begun, the benefits to the child with celiac disease will initially be obvious and enthusiastically accepted. However, as the child gets older, the period of ill health may be forgotten, and the child may be reject the diet, especially during adolescence , when there is a desire for conformity. Unfortunately, in older children, the symptoms may not reappear immediately although intestinal damage is occurring. The child may interpret the delay in the return of symptoms as evidence that the child has recovered from celiac disease, but they have not, as celiac disease cannot be cured.

KEY TERMS

Antibody —A special protein made by the body's immune system as a defense against foreign material (bacteria, viruses, etc.) that enters the body. It is uniquely designed to attack and neutralize the specific antigen that triggered the immune response.

Antigen —A substance (usually a protein) identified as foreign by the body's immune system, triggering the release of antibodies as part of the body's immune response.

Gluten —A protein found in wheat, rye, barley, and oats.

Immune system —The system of specialized organs, lymph nodes, and blood cells throughout the body that work together to defend the body against foreign invaders (bacteria, viruses, fungi, etc.).

Villi —Tiny, finger-like projections that enable the small intestine to absorb nutrients from food.

Resources

BOOKS

Icon Health Publications. The Official Patient's Sourcebook on Celiac Disease. San Diego, CA: Icon Health Publications, 2002.

Korn, Danna. Kids with Celiac Disease. Bethesda, MD: Woodbine House, 2001.

Kruszka, Bonnie J., and Richard S. Cihlar. Eating Gluten-Free with Emily. Bethesda, MD: Woodbine House, 2004.

Sanderson, Sheri L. Incredible Edible Gluten-Free Food for Kids. Bethesda, MD: Woodbine House, 2002.

ORGANIZATIONS

American Celiac Society. 58 Musano Court, West Orange, NJ 07052. Telephone: 201/325–8837.

Celiac Disease Foundation. 13251 Ventura Blvd., Suite 1, Studio City, CA 91604–1838. Web site: <http://celiac.org>.

Celiac Sprue Association/United State of America (CSA/USA). PO Box 31700, Omaha, NE 68131–0700. Web site: <www.csaceliacs.org>.

Gluten Intolerance Group of North America. PO Box 23053, Seattle, WA, 98102–0353. Web site: <www.gluten.net>.

National Center for Nutrition and Dietetics, American Dietetic Association. 216 West Jackson Boulevard, Suite 800, Chicago, IL 60606–6995. Telephone: 800/366–1655. Web site: <www.unl.edu2020/alpha/National_Center_for_Nutrition_and_Dietetics.html>.

ROCK: Raising Our Celiac Children. 216 West Jackson Boulevard, Suite 800, Chicago, IL 60606–6995. Telephone: 800/366–1655. Web site: <www.celiac.com/cgi-bin/webc.cgi/st_main.html?p_catid=8>.

WEB SITES

"Celiac Disease." National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, 2004. Available online at <http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/> (accessed October 25, 2004).

Celiac Disease and Diet Support Center. Available online at <www.celiac.com/> (accessed October 25, 2004).

OTHER

Gluten-Free Living, a bimonthly newsletter. PO Box 105, Hastings-on-Hudson, NY 10706. Available online at <www.glutenfreeliving.com/> (accessed October 25, 2004).

Judith Sims, MS Amy Vance, MS, CGC

Celiac disease

Description

Celiac disease, also known as celiac sprue or gluten sensitive enteropathy (GSE), is an inherited condition in which the body is unable to properly absorb nutrients from food (malabsorption) due to an autoimmune response triggered by exposure to gluten proteins found in grains.

Demographics

Celiac disease is found throughout the world, especially in Caucasians of European decent. The highest prevalence occurs in North America, Europe, and Australia, with an estimated occurrence of 1 in 133 people in the United States.

Once considered primarily a disease of childhood and adolescence, celiac disease is becoming recognized as a health issue for the elderly. An estimated 25% of newly-diagnosed cases occur in the elderly. Concern over celiac disease is growing, as it is considered to be one of the most under-diagnosed inherited conditions, with an estimated 97% of cases not yet diagnosed.

If an individual has a family member with celiac disease, they are more likely to have it since the disease is usually inherited. It is often associated with other conditions such as type 1 diabetes, thyroid disease, rheumatoid arthritis , and lupus erythematosis, infertility, migraines, depression , and other neurological disorders.

Causes and symptoms

Development of celiac disease arises from a combination of several factors: genetics, exposure to a triggering event and/or substance, as well as inappropriate autoimmune responses. The potential to develop the disease is inherited, and is associated with the presence of specific types of HLA (human leukocyte antigen) genes that are present at birth. Celiac disease may also appear after surgery, following pregnancy, some types of stressful events, or following an infection (such as from a virus).

The aggravating substance responsible for the symptoms of celiac disease is a group of storage proteins in wheat called gluten; more specifically a substance called gliadan. The grains barley, rye, and oats contain proteins that are similar, called prolamins. Prolamins may cause a reaction as well, though oats are a subject of debate due to possible cross contamination from other gluten-containing grains during food processing. Gluten is found in some medications, thickening agents used in soups and sauces, and some bouillon cubes.

When glutens are consumed by a person who is genetically susceptible, the glutens enter the small intestine and begin a reaction. The immune system starts to attack the villi and microvilli structures of the small intestine, which are hair-like projections that assist in the absorption of nutrients and fluids. This autoimmune reaction occurs when the body attacks itself in the process of inflammation directed at the small intestine. This reaction involves a complex interaction between the structures of the intestine and components of the body's immune system; antibodies (proteins that bind to foreign substances), T cells (a type of lymphocyte or white blood cell), complement proteins (assist in removing foreign substances) and cytokines (proteins that assist in the immune system). In genetically susceptible individuals, this inappropriate attack results in changes in the structure of the villi and microvilli of the intestine, such that they are damaged and perhaps even lost. This reduces their ability to absorb nutrients, resulting in malabsorption.

Due to the malabsoprtion of nutrients (vitamins , minerals, and fats), the symptoms of celiac disease can be quite variable depending on the patient's exposure to gluten, extent of intestinal abnormality, organ system, and individual susceptibility. The symptoms may be present in various combinations of differing severity, depending upon the stage of disease at the time of diagnosis and the involvement of different bodily systems. The onset of symptoms may occur during childhood, adulthood, or later in the senior years. There is no typical presentation of celiac disease, which makes a diagnosis challenging for physicians. Symptoms may include various combinations of: anemia , osteoporosis , vitamin deficiencies (calcium , iron, magnesium, folate, potassium, etc.), diarrhea , constipation (in some cases), stool that smells bad, low blood protein levels, weight loss , flatulence, bloating, changes in tooth enamel, tetany (muscle spasms/tremors), edema (swelling), depression, mental confusion, and feelings of fatigue or weakness, among others. The skin condition Dermatitis herpetiformis can also be present as an itchy rash with blisters that occurs on various parts of body such as the scalp, trunk, and extremities.

Given the various clinical presentations, celiac disease is generally classified into three types; asymptomatic, symptomatic, and latent. Asymptomatic patients may have little or no symptoms coupled with blood abnormalities such as anemia, vitamin deficiencies, and bone abnormalities. More pronounced symptomatic disease displays greater involvement, such as malabsorption problems, gastrointestinal symptoms, and possibly weight loss. If the patient has the disease (or has a history of it) and yet the structure of the intestine appears normal upon examination, then it is said to be latent.

Diagnosis

The diagnosis of celiac disease in the elderly is complicated and is often confused with other conditions such as inflammatory bowel disease. In the elderly, celiac disease may be initially recognized by the presence of associated conditions due to malabsorption, such as anemia and other blood abnormalities, osteoporosis, and fatigue or weakness. Celiac disease may not be recognized by health care providers, many of whom still think of it as a disease of the young. Symptoms may be inappropriately attributed to part of aging. By the time it is diagnosed in many seniors, the damage of celiac disease may be more pronounced (i.e., higher risk for severe osteoporosis, lymphoma, or reduced cognitive functions). It is particularly important to actively pursue a work-up for celiac disease in an elderly person if he or she displays some of the symptoms. Celiac disease should also be considered if associated conditions are present such as type 1 diabetes, thyroid disease, rheumatoid arthritis, and lupus erythematosis, neurological disorders, and psychiatric symptoms such as depression and confusion.

Before being tested for celiac disease, the patient should eat a normal diet containing gluten for several weeks prior to the test. This assists in the detection of abnormalities in the blood that are triggered by normal gluten consumption, which is essential to maintain the accuracy of the testing and diagnosis.

Physicians often order several tests to determine if a patient has celiac disease. These tests search for the following antibodies and factors in blood, which indicate presence of the disease.

• EMA-IgA (endomysial antibody)
• tTGA-IgA (tissue transglutaminase antibody)
• AGA-IgA (IgA anti-gliadin antibody)
• AGG-IgG (IgG anti-gliadin antibody)

If the initial blood screen shows that celiac disease might be present, further verification can be obtained from a biopsy of the small intestine during an endoscopy procedure (EGD). In this procedure, the patient is sedated and a thin, flexible instrument is inserted down through the mouth and esophagus until the small intestine is reached. The area is viewed for possible abnormalities, and small tissue samples are obtained (biopsies). The biopsies are then examined for the changes associated with celiac disease, such as alterations in the villi or microvilli. In cases where diagnosis is more difficult, genetic tests may be used to determine if it is possible for the person to have inherited the disease.

Once the diagnosis has been confirmed, a patient is usually instructed to begin a trial diet that excludes gluten. If the patient's symptoms decline and improve, this is yet another confirmation of the condition.

To assess the impact of celiac disease on other parts of the body, additional tests may be performed such as a bone density scan for osteoporosis, a complete blood count (CBC) test to test for anemia, and blood tests to check for abnormalities that may indicate malabsorption (for vitamin and mineral deficiencies). Tests for lactose tolerance may be performed, as some people with celiac disease have problems with dairy products.

Treatment

The only real treatment for celiac disease is a strict, life-long commitment to a gluten-free diet , without consumption of wheat, rye, barley, and other offending grains. There is not yet a cure for this disease. If a person has positive test results for celiac disease, or suspects that he or she has the disease, it would be wise to consult with a gastroenterologist for further evaluation before a gluten-free diet is initiated. Additional measures may be taken to counteract the effects of malabsorption, such as vitamin and mineral supplements and other medications as dictated by the extent of the disease.

Nutrition/Dietetic concerns

Adherence to a gluten-free diet is critical to the management of this condition, and is the only real way to treat the disease and begin the healing process. Exposure to even a small amount of gluten can be potentially harmful. It is advisable to see a nutritionist or dietician to learn what foods to avoid and how to manage this condition on a daily basis, as it can be challenging to initiate such a dramatic, disciplined life-long change. A nutritionist or dietician can suggest how to incorporate the necessary vitamins and minerals in the diet, and dietary recommendations for issues such as constipation and diarrhea. A specific dietary plan can be tailored to the patient's needs that is beneficial, practical, and affordable.

Gluten is found in products containing wheat, rye, and barley as ingredients. This includes items such as bread, processed foods, cereals, pasta, and other common processed food items such as soups and sauces that contain thickening agents. It may also be an ingredient in food items such as soy sauce, lunch meats, salad dressings, and seasonings. Gluten is found in communion wafers, though there is now a source for wafers that do not contain wheat.

It is important to research the ingredients of anything that is consumed for the presence of gluten. It can be a hidden ingredient of medications, used to hold the components of pills together, and may not be listed as on some generic formulations. Gluten is also an ingredient in many cosmetic items such as lipstick and lip balms.

Given the potential of gluten exposure through a wide variety of sources, it is important for the patient to learn how to minimize exposure through wellinformed knowledge of the way in which foods are labeled. In January 2007, the U.S. Food and Drug Administration (FDA) issued a statement on the meaning of the term “gluten-free”. There are many resources available through support groups on the internet that can provide information about labeling, offending foods, sources of affordable ingredients, recipes and cookbooks, and even guides for eating out.

People with celiac disease can still eat with enjoyment. Safe foods include meats, fish, poultry, fruits, vegetables, corn, and rice, among many others. By adjusting one's diet appropriately, there is great potential to return to health and maintain it in spite of the disease.

Therapy

Coping with celiac disease can be challenging, especially in the elderly, who are often diagnosed after the disease has become established. Coping with chronic health issues and associated conditions can be very difficult psychologically. Celiac disease may result in depression and other neuropsychiatric symptoms. The accurate diagnosis and implementation of a gluten-free diet can be helpful in lessoning the psychological and emotional symptoms of this disease, and in some cases, a simple dietary change may have a pronounced effect.

A variety of support groups through various foundations exist for patients with celiac disease. For seniors that are homebound and are computer proficient, online support groups are available through the internet, and some have support group topics sent to the patient via email. As celiac disease becomes recognized, the availability of supportive resources increases.

Prognosis

The prognosis for celiac disease varies depending on when the condition is diagnosed. In general, patients who adhere to the gluten dietary restrictions do quite well, and many of the symptoms and damage can be reversible. Usually, patients that have the most difficulty are those who do not comply with dietary restrictions.

Prevention

The primary means of prevention is avoidance of gluten. It may be helpful for the patient to keep a food diary, noting those foods that cause symptoms and those that do not. In particular, it is very important for the patient to have a thorough understanding of the different ways food is labeled with regard to gluten. Much of this information is available from various support organizations on the internet.

A physician may monitor seniors for the development of conditions that occur in the later years of life, such as osteoporosis (through a bone density scan), diabetes, and forms of colon cancer if determined necessary. Other periodic tests, such as blood tests for anemia and vitamin and mineral deficiencies may be performed. Recommendations to maintain overall health in seniors should be followed, such as proper nutrition and taking care to have the appropriate immunizations, as the immune system and energy levels of patients with celiac disease may be weak. Having a cooperative, working partnership with a physician and dietician who can monitor the patient is essential.

Caregiver concerns

Caregivers must be informed if the patient has celiac disease, especially if the patient does not prepare his or her own meals (i.e., in an assisted care facility). Socially, it can be somewhat isolating to be unable to share in certain foods, such as at a birthday party, potluck, or eating out. It is especially important to be educated as to what foods can be eaten, as well as create alternative strategies that will not socially limit an individual (such as having gluten-free food available, or having the patient bringing their own food to eat).

QUESTIONS TO ASK YOUR DOCTOR

• What tests are needed to confirm a diagnosis of celiac disease and what are the associated risks? Should testing for other conditions associated with celiac disease be performed? What preparation is needed for the tests?
• Do other members of my family need to be notified that they may also have inherited celiac disease? What is the best way to tell them?
• What periodic testing must be performed to monitor the disease?
• What is the prognosis? What type of disease is present?
• If gluten is accidentally consumed, what should be done?
• Should a food diary be kept? What symptoms should be noted?
• Can a consultation be arranged with a dietician to learn what foods can or cannot be eaten? What resources are available for learning more about the diet?
• Are dietary supplements or medications needed to manage this condition?
• If coping with the disease becomes difficult, are there resources such as counseling and support groups available to help with the adjustment?
• Can gluten free food be purchased locally? If not, are there other sources?
• How should the assisted care facility be notified? How will compliance for providing the diet be assessed?

Resources are available for preparing gluten-free foods at home, with a growing number of cookbooks, recipes, and commercial food items available for consumption. However, some of these items may be more expensive. Various organizations for patients with celiac disease can provide information on sources of food items that may be more affordable, as well as provide satisfying recipes.

Patients diagnosed with celiac disease may experience depression, moodiness, or other physical symptoms that require compassion, understanding, and appropriate management. If the patient is in an assisted-care facility, it is imperative that the staff be informed of the dietary requirements and potential health needs of the patient with celiac disease.

KEY TERMS

Celiac disease —An inherited condition in which the body cannot properly absorb nutrients from food (malabsorption) due to an autoimmune response triggered by exposure to gluten proteins found in grains.

Gluten —A storage protein component of the grains wheat, rye, and barely, and an ingredient in many prepared foods and thickening agents.

Iron deficiency anemia —A condition in which too few red blood cells are present resulting from low levels of iron in the blood.

Malabsorption —A condition whereby the gastrointestinal tract cannot properly absorb nutrients from food.

Osteoporosis —A condition where there is loss of bone mass, making the bones thinner and more easily broken.

Celiac disease should be managed with a team approach, with cooperation from family members, healthcare providers, and caregivers working together to promote health and vitality for the celiac patient. When appropriate resources, nutrition, and monitoring are in place, the patient can lead a relatively normal, enjoyable life.

Resources

BOOKS

Netter's Gastroenterology. Edited by Martin H. Floch, Neil R. Floch, and Kris V. Kowdley. Saunders, 2004.

Minocha, Anil. Handbook of Digestive Diseases. Thorofare, NJ: SLACK Incorporated, 2004.

Yamada, Tadataka, et al. Handbook of Gastroenterology. Philadelphia: Lippincott-Raven Publishers, 1998.

PERIODICALS

Desplat-Jego, S., et al. Journal of the American Geriatric Society 51, no. 6 (Jun 2003): 884-5.

Lurie, Y., et al. Journal of Clinical Gastroenterology 42 (2008): 59–61.

Patel, D., et al. Gerontology 51 (2005): 213–14.

Schuppan, D., et al. Nutritional Clinical Care 8, no. 2 (2005):54–69.

OTHER

Celiac Disease. Celiac Disease Foundation. [cited April 11, 2008]. http://www.celiac.org/cd-main.php.

“Celiac Disease.” Digestive System. December 14, 2006 [cited April 11, 2008]. MayoClinic.com. http://www.mayoclinic.com/health/celiac-disease/DS00319/DSECTION=3.

“Celiac Disease Comprehensive Panel.” [cited April 11, 2008]. Quest Diagnostics. http://www.questdiagnostics.com/hcp/topics/gastroent/celiac.html?gastroent.

Celiac Disease & Gluten-free Survival Guide. 2008 [cited April 11, 2008]. National Foundation for Celiac Awareness. http://www.celiaccentral.org/What_is_Celiac_/Celiac_Survival_Guide/416/.

“Celiac Disease—Sprue.” Medical Encyclopedia. August 7, 2007 [cited April 11, 2008]. http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm#visualContent.

Pruessner, Harold. “Detecting Celiac Disease in Your Patients.” American Family Physician. March 1, 1998 [cited April 11, 2008]. http://www.aafp.org/afp/980301ap/pruessn.html.

What I Need to Know About Celiac Disease. August 2007 [cited April 11, 2008]. National Digestive Diseases Information Clearinghouse. http://digestive.niddk.nih.gov/ddiseases/pubs/celiac_ez/index.htm.

Wm. K. Warren Medical Research Center for Celiac Disease. [cited April 11, 2008]. http://celiaccenter.ucsd.edu/.

ORGANIZATIONS

Celiac Disease Foundation, 13251 Ventura Blvd.#1, Studio City, CA, 91604, (818) 990-2354, (818) 990-2379, cdf@celiac.org, http://www.celiac.org.

Celiac Sprue Association, P.O. Box 31700, Ohmaha, NE, 68131-0700, (402) 558-0600, (877) CSA-4-CSA, celiacs@csaceliacs.org, http://www.csaceliacs.org.

National Foundation for Celiac Awareness, P.O. Box 544, Ampler, PA, 19002-0544, (215) 325-1306, info@ celiaccentral.org, http://www.celiaccentral.org.

Jill Granger MS

Celiac Disease

Definition

Celiac disease is a disease of the digestive system that damages the small intestine and interferes with the absorption of nutrients from food.

Description

Celiac disease occurs when the body reacts abnormally to gluten, a protein found in wheat, rye, barley, and possibly oats. When someone with celiac disease eats foods containing gluten, that person's immune system causes an inflammatory response in the small intestine, which damages the tissues and results in impaired ability to absorb nutrients from foods. The inflammation and malabsorption create wide-ranging problems in many systems of the body. Since the body's own immune system causes the damage, celiac disease is classified as an "autoimmune" disorder. Celiac disease may also be called sprue, nontropical sprue, gluten sensitive enteropathy, celiac sprue, and adult celiac disease.

Celiac disease may be discovered at any age, from infancy through adulthood. The disorder is more commonly found among white Europeans or in people of European descent. It is very unusual to find celiac disease in African or Asian people. The exact incidence of the disease is uncertain. Estimates vary from one in 5000, to as many as one in every 300 individuals with this background. The prevalence of celiac disease seems to be different from one European country to another, and between Europe and the United States. This may be due to differences in diet and/or unrecognized disease. A recent study of random blood samples tested for celiac disease in the US showed one in 250 testing positive. It is clearly under-diagnosed, probably due to the symptoms being attributed to another problem, or lack of knowledge about celiac disease by physicians and laboratories. Because of the known genetic component, relatives of patients with celiac disease are considered at higher risk for the disorder.

Because celiac disease has a hereditary influence, close relatives (especially first degree relatives, such as children, siblings, and parents) have a higher risk of being affected with the condition. The chance that a first degree relative of someone with celiac disease will have the disease is about 10%.

As more is learned about celiac disease, it becomes evident that it has many variations which may not produce typical symptoms. It may even be clinically "silent," where no obvious problems related to the disease are apparent.

Causes and symptoms

Celiac disease can run in families and has a genetic basis, although the pattern of inheritance is complicated. The type of inheritance pattern that celiac disease follows is called multifactorial (caused by many factors, both genetic and environmental). Researchers think that several factors must exist in order for the disease to occur. The patient must have a genetic predisposition to develop the disorder. Then, something in their environment acts as a stimulus, or "trigger," to their immune system, causing the disease to become active for the first time. For conditions with multifactorial inheritance, people without the genetic predisposition are less likely to develop the condition with exposure to the same triggers. Or, they may require more exposure to the stimulus before developing the disease than someone with a genetic predisposition. Some of the things which may provoke a reaction include surgery, especially gastrointestinal surgery; a change to a low fat diet, which has an increased number of wheat-based foods; pregnancy; childbirth; severe emotional stress ; or a viral infection. This combination of genetic susceptibility and an outside agent leads to celiac disease.

Each person with celiac disease is affected differently. When food containing gluten reaches the small intestine, the immune system begins to attack a substance called gliadin, which is found in the gluten. The resulting inflammation causes damage to the delicate finger-like structures in the intestine, called villi, where food absorption actually takes place. The patient may experience a number of symptoms related to the inflammation and the chemicals it releases, and/or the lack of ability to absorb nutrients from food, which can cause malnutrition.

The most commonly recognized symptoms of celiac disease relate to the improper absorption of food in the gastrointestinal system. Many patients with gastrointestinal symptoms will have diarrhea and fatty, greasy, unusually foul-smelling stools. The patient may complain of excessive gas (flatulence), distended abdomen, weight loss, and generalized weakness. Not all people have digestive system complications; some people only have irritability or depression. Irritability is one of the most common symptoms in children with celiac disease.

Not all patients have these problems. Unrecognized and therefore untreated celiac disease may cause or contribute to a variety of other conditions. The decreased ability to digest, absorb, and utilize food properly (malabsorption) may cause anemia (low red blood count ) from iron deficiency or easy bruising from a lack of vitamin K. Poor mineral absorption may result in osteoporosis, or "brittle bones," which may lead to bone fractures. Vitamin D levels may be insufficient and bring about a "softening" of bones (osteomalacia), which produces pain and bony deformities, such as flattening or bending. Defects in the tooth enamel, characteristic of celiac disease, may be recognized by dentists. Celiac disease may be discovered during medical tests performed to investigate failure to thrive in infants, or lack of proper growth in children and adolescents. People with celiac disease may also experience lactose intolerance because they don't produce enough of the enzyme lactase, which breaks down the sugar in milk into a form the body can absorb. Other symptoms can include muscle cramps, fatigue, delayed growth, tingling or numbness in the legs (from nerve damage), pale sores in the mouth (called aphthus ulcers), tooth discoloration, or missed menstrual periods (due to severe weight loss).

A distinctive, painful skin rash, called dermatitis herpetiformis, may be the first sign of celiac disease. Approximately 10% of patients with celiac disease have this rash, but it is estimated that 85% or more of patients with the rash have the disease.

Many disorders are associated with celiac disease, though the nature of the connection is unclear. One type of epilepsy is linked to celiac disease. Once their celiac disease is successfully treated, a significant number of these patients have fewer or no seizures. Patients with alopecia areata, a condition where hair loss occurs in sharply defined areas, have been shown to have a higher risk of celiac disease than the general population. There appears to be a higher percentage of celiac disease among people with Down syndrome, but the link between the conditions is unknown.

Several conditions attributed to a disorder of the immune system have been associated with celiac disease. People with insulin dependent diabetes (type I) have a much higher incidence of celiac disease. One source estimates that as many as one in 20 insulin-dependent diabetics may have celiac disease. Patients with other conditions where celiac disease may be more commonly found include those with juvenile chronic arthritis, some thyroid diseases, and IgA deficiency.

There is an increased risk of intestinal lymphoma, a type of cancer, in individuals with celiac disease. Successful treatment of the celiac disease seems to decrease the chance of developing lymphoma.

Diagnosis

Because of the variety of ways celiac disease can manifest itself, it is often not discovered promptly. Its symptoms are similar to many other conditions including irritible bowel syndrome, Crohn's disease, ulcerative colitis, diverticulosis, intestinal infections, chronic fatigue syndrome, and depression. The condition may persist without diagnosis for so long that the patient accepts a general feeling of illness as normal. This leads to further delay in identifying and treating the disorder. It is not unusual for the disease to be identified in the course of medical investigations for seemingly unrelated problems. For example, celiac disease has been discovered during testing to find the cause of infertility.

If celiac disease is suspected, a blood test can be ordered. This test looks for the antibodies to gluten (called antigliadin, anti-endomysium, and antireticulin) that the immune system produces in celiac disease. Antibodies are chemicals produced by the immune system in response to substances that the body perceives to be threatening. Some experts advocate not just evaluating patients with symptoms, but using these blood studies as a screening test for high-risk individuals, such as those with relatives (especially first degree relatives) known to have the disorder. An abnormal result points towards celiac disease, but further tests are needed to confirm the diagnosis. Because celiac disease affects the ability of the body to absorb nutrients from food, several tests may be ordered to look for nutritional deficiencies. For example, doctors may order a test of iron levels in the blood because low levels of iron (anemia) may accompany celiac disease. Doctors may also order a test for fat in the stool, since celiac disease prevents the body from absorbing fat from food.

If these tests above are suspicious for celiac disease, the next step is a biopsy (removal of a tiny piece of tissue surgically) of the small intestine. This is usually done by a gastroenterologist, a physician who specializes in diagnosing and treating bowel disorders. It is generally performed in the office, or in a hospital's outpatient department. The patient remains awake, but is sedated. A narrow tube, called an endoscope, is passed through the mouth, down through the stomach, and into the small intestine. A small sample of tissue is taken and sent to the laboratory for analysis. If it shows a pattern of tissue damage characteristic of celiac disease, the diagnosis is established.

The patient is then placed on a gluten-free diet (GFD). The physician will periodically recheck the level of antibody in the patient's blood. After several months, the small intestine is biopsied again. If the diagnosis of celiac disease was correct (and the patient followed the rigorous diet), healing of the intestine will be apparent. Most experts agree that it is necessary to follow these steps in order to be sure of an accurate diagnosis.

Treatment

The only treatment for celiac disease is a gluten-free diet. This may be easy for the doctor to prescribe, but difficult for the patient to follow. For most people, adhering to this diet will stop symptoms and prevent damage to the intestines. Damaged villi can be functional again in three to six months. This diet must be followed for life. For people whose symptoms are cured by the gluten-free diet, this is further evidence that their diagnosis is correct.

Gluten is present in any product that contains wheat, rye, barley, or oats. It helps make bread rise, and gives many foods a smooth, pleasing texture. In addition to the many obvious places gluten can be found in a normal diet, such as breads, cereals, and pasta, there are many hidden sources of gluten. These include ingredients added to foods to improve texture or enhance flavor and products used in food packaging. Gluten may even be present on surfaces used for food preparation or cooking.

Fresh foods that have not been artificially processed, such as fruits, vegetables, and meats, are permitted as part of a GFD. Gluten-free foods can be found in health food stores and in some supermarkets. Mail-order food companies often have a selection of gluten-free products. Help in dietary planning is available from dieticians (healthcare professionals specializing in food and nutrition ) or from support groups for individuals with celiac disease. There are many cookbooks on the market specifically for those on a GFD.

Treating celiac disease with a GFD is almost always completely effective. Gastrointestinal complaints and other symptoms are alleviated. Secondary complications, such as anemia and osteoporosis, resolve in almost all patients. People who have experienced lactose intolerance related to their celiac disease usually see those symptoms subside, as well. Although there is no risk and much potential benefit to this treatment, it is clear that avoiding all foods containing gluten can be difficult.

Experts emphasize the need for lifelong adherence to the GFD to avoid the long-term complications of this disorder. They point out that although the disease may have symptom-free periods if the diet is not followed, silent damage continues to occur. Celiac disease cannot be "outgrown" or cured, according to medical authorities.

KEY TERMS

Antibodies— Proteins that provoke the immune system to attack particular substances. In celiac disease, the immune system makes antibodies to a component of gluten.

Gluten— A protein found in wheat, rye, barley, and oats.

Villi— Tiny, finger-like projections that enable the small intestine to absorb nutrients from food.

Prognosis

Patients with celiac disease must adhere to a strict GFD throughout their lifetime. Once the diet has been followed for several years, individuals with celiac disease have similar mortality rates as the general population. However, about 10% of people with celiac disease develop a cancer involving the gastrointestinal tract (both carcinoma and lymphoma).

There are a small number of patients who develop a refractory type of celiac disease, where the GFD no longer seems effective. Once the diet has been thoroughly assessed to ensure no hidden sources of gluten are causing the problem, medications may be prescribed. Steroids or immunosuppressant drugs are often used to try to control the disease. It is unclear whether these efforts meet with much success.

Prevention

There is no way to prevent celiac disease. However, the key to decreasing its impact on overall health is early diagnosis and strict adherence to the prescribed gluten-free diet.

Resources

PERIODICALS

Gluten-Free Living, (Bimonthly newsletter). PO Box 105, Hastings-on-Hudson, NY 10706.

ORGANIZATIONS

American Celiac Society. 58 Musano Court, West Orange, NJ 07052. (201) 325-8837.

Celiac Disease Foundation. 13251 Ventura Blvd., Suite 1, Studio City, CA 91604-1838. (818) 990-2354. 〈http://www.cdf@celiac.org〉.

Celiac Sprue Association/United States of America (CSA/USA). PO Box 31700, Omaha, NE 68131-0700. (402) 558-0600.

Gluten Intolerance Group. PO Box 23053, Seattle, WA 98102-0353. (206) 325-6980.

National Center for Nutrition and Dietetics. American Dietetic Association, 216 West Jackson Boulevard, Suite 800, Chicago, IL 60606-6995. (800) 366-1655.

OTHER

National Institute of Diabetes & Digestive & Kidney Diseases. 〈http://www.niddk.nih.gov/health/digest/pubs/celiac/index.htm〉.

Celiac Disease

Definition

Description

Demographics

Causes and symptoms

Diagnosis

Treatment

Nutrition/Dietetic concerns

Therapy

Prognosis

Prevention

Resources

Definition

Celiac disease, also known as sprue, celiac sprue, nontropical sprue, and gluten-sensitive enteropathy, is a life-long autoimmune disease in which the body’s reaction to gluten causes damage to the intestines that results in poor absorption of nutrients.

Description

Absorption of most nutrients occurs in the small intestine. The intestine is lined with microscopic, hairlike projections called villi, and it is through these villi that nutrients are absorbed. Villi project into the

intestine and provide an increased the surface area for absorption. Damage to the villi results in inadequate absorption, especially of vitamins, minerals, and fats .

Celiac disease is an autoimmune disease. Whenever immune system cells in the body sense the presence of foreign material, they produce proteins called antibodies that act to disable the foreign material. In an autoimmune disease, the body treats some of its own cells as foreign and attacks them. Celiac disease is also classified as a malabsorption disease because the cells that are damaged by the body’s immune system are cells of the villi lining the small intestine. When these cells are damaged, the villi flatten out, decreasing the surface area available for absorption. Nutrients are not properly absorbed, and vitamin and mineral deficiencies often develop.

The symptoms of celiac disease were describe as early as 1888, but it was not until the 1950s that physicians began to understand what caused the disease. A Dutch pediatrician, W. K. Dicke, was the first person to make the connection between the consumption of foods containing wheat and symptoms of celiac disease. Today researchers know that the problem substance is gluten found in wheat, rye, and barley, and products such as four, bread, and pasta made from these grains. The role of oats and oat products in celiac disease remains controversial.

Demographics

Celiac disease is most common among people of Northern European ancestry and is uncommon to rare among people of African or Asian ancestry. Initially celiac disease was thought to be uncommon in the United States, but recent improvements in genetic testing and disease awareness have changed that picture. Experts now believe that in the United States and other areas of the world settled primarily by Europeans (e.g. Australia), about 1 of every 133 people has celiac disease. The disease has an inherited component, and the rate increases to 1 of every 22 people who are blood relatives of a parent, sibling, or child with the disease. In about 70% of identical twins, if one has celiac disease, the other also has it. Celiac disease is also more common among people with other genetically-related autoimmune diseases such as systemic lupus erythematosus, type 1 diabetes (juvenile diabetes), rheumatoid arthritis, and autoimmune thyroid disease.

People of any age can be diagnosed with celiac disease. However, there are two common peaks for diagnosis, one between 8–15 months, which is shortly after infants usually begin eating wheat products, and another between 30–40 years in adults.

Causes and symptoms

Researchers have traced the genetic component of celiac disease to a cluster of genes on chromosome six. Multiple genes are involved, which may account for the variation in symptoms and inheritability of the disease. Often, symptoms of the disease develop after a serious infection, physical trauma, pregnancy, or surgery. Researchers do not know why stress on the body appears to trigger symptoms.

Symptoms of celiac disease are varied. Some people have the disease (as diagnosed by samples that show damage to the small intestine), but they show no symptoms. Others go along for years with annoying or intermittent symptoms, and some, especially children, show severe symptoms of malnutrition that stunt growth despite eating a healthy diet. Symptoms are similar to those of other, more common, digestive diseases Often celiac disease is initially misdiagnosed.

Common symptoms of celiac fall into two categories, those primarily related to the immediate problems of digesting food and those that result mainly from long-term deficiencies in vitamins and minerals.

KEY TERMS

Antibody— a protein produced by the immune system to fight infection or rid the body of foreign material. The foreign material that stimulates the production of antibodies is called an antigen. Specific antibodies are produced in response to each different antigen and can only inactivate that particular antigen.

Mineral— an inorganic substance found in the earth that is necessary in small quantities for the body to maintain a health. Examples: zinc, copper, iron.

Osteoporosis— a condition found in older individuals in which bones decrease in density and become fragile and more likely to break. It can be caused by lack of vitamin D and/or calcium in the diet.

Quinoa— a high-protein grain native to South America (pronounced keen-wah).

Systemic lupus erythematosus (SLE)— a serious autoimmune disease of connective tissue that affects mainly women. It can cause joint pain, rash, and inflammation of organs such as the kidney.

Triticale— ;man-made hybrid plant that combines wheat and rye and that produces a higher protein flour.

Type 1 diabetes— also known as insulin-dependent diabetes mellitus (IDDM), or juvenile diabetes, an autoimmune disease in which the body appears to disable cells in the pancreas that produce insulin. Without insulin, the body cannot use glucose (sugar).

Vitamin— a nutrient that the body needs in small amounts to remain healthy but that the body cannot manufacture for itself and must acquire through diet.

Symptoms primarily related to immediate difficulties in digestion include:

• chronic diarrhea
• foul-smelling grayish stools. These result from inability to properly digest fats
• gas, abdominal bloating
• abdominal cramps
• weight loss

Other symptoms that develop because of vitamin and mineral deficiencies can include:

• iron deficiency anemia, low red blood cell count
• joint pain, muscle pain, muscle cramps
• osteoporosis (inadequate calcium absorption)
• tingling in the legs from nerve damage
• seizures
• bleeding disorders (inadequate vitamin K)
• missed menstrual periods
• infertility (women), frequent miscarriages
• failure to thrive in infants
• delayed mental and physical growth in children

Other symptoms include:

• fatigue
• irritability and behavioral changes especially in children
• pale sores inside the mouth
• dermatitis herpetiformis, an itchy skin rash that usually appears on the trunk, buttocks, neck, and scalp.

Diagnosis

Celiac disease can be difficult to diagnose because its symptoms are similar to those of so many other diseases. Often it is initially misdiagnosed as irritable bowel syndrome or Crohn’s disease Stool examination, blood tests, and lactose (milk sugar) tolerance tests are often done when the patient first complains of symptoms, but there are two definitive tests for celiac disease.

The immune system of people with celiac disease produces higher than normal levels of certain antibodies. Blood tests can detect abnormal levels of these antibodies. If blood tests are positive, a small bowel endoscopy with biopsies is done. Endoscopies are usually performed in a doctor’s office or an outpatient clinic while the patient is under light sedation. In this procedure, the physician inserts a tube called an endoscope down the patient’s throat, through the patient’s stomach and into the upper part of the small intestine. A tiny camera at the end of the endoscope allows the doctor to see if there is damage to villi. During this procedure, the doctor also removes small tissue samples (biopsies) from the intestinal lining in order to look for cell damage under the microscope. Presence of a specific type of damage is a positive diagnosis for celiac disease.

Treatment

There is no cure for celiac disease. The only treatment is life-long avoidance of any foods that contain gluten. This means not eating foods that contain wheat, rye, and barley, such as bread or baked goods, pizza, spaghetti, and many processed foods that use flour as a thickening agent.

When individuals fail to improve on a gluten-free diet , it is sometimes because they are unintentionally consuming sources of hidden gluten. A few people on truly gluten-free diets do not improve. They can be treated with corticosteroid drugs to reduce inflammation, but this does not heal the intestine. Clinical trials concerning treatment of celiac disease are underway. Patients interested in participating in a clinical trial at no cost can find a list of trials currently enrolling volunteers at <http://www.clinicaltrials.gov>

Nutrition/Dietetic concerns

Individuals newly diagnosed with celiac disease need counseling from a nutritionist and help in meal planning from a dietitian. Two issues need to be addressed. First, what is safe to eat, and second, how to get the right balance of nutrients in a gluten-free diet. Complicating matters, damage to the intestines may make some people lactose intolerant, so that they either cannot eat or must limit dairy products in their diet.

Many cookbooks are available to help people on a gluten-free diet. Home cooks must learn to substitute ingredients such as cornstarch and rice flour for wheat flour in their foods. An increasing number of gluten-free foods are available commercially. However, these often cost more than their gluten-containing counterparts. Below are listed just a few foods people with celiac disease can safely eat.

• plain fruits and vegetables
• plain meat that has not been breaded, coated, or mixed with fillers
• potatoes
• rice (all types)
• cornmeal, cornstarch, and products made of corn, such as corn tortillas
• tapioca
• buckwheat
• dried beans and peas
• nuts
• quinoa
• amaranth
• arrowroot

Other foods must be avoided. Individuals with celiac disease must also avoid cross-contamination with these foods. For example, they should not cut gluten-free bread using a knife that has cut regular wheat bread unless the knife has been thoroughly washed. Even small amounts of gluten can cause damage to the intestine. Some of the foods people with celiac disease must avoid are listed below.

• wheat flours including durum flour, enriched flour, graham flour, semolina flour, and white flour
• wheat germ, wheat starch, wheat bran, cracked wheat
• products made with the above mentioned wheat products such as pasta, bread, cakes, cookies
• barley, barley flour, and products made with barley
• rye, rye flour, and products made with rye
• triticale and other wheat hybrids

Learning how to read food labels is very important to people who must avoid gluten. However, this may become easier in the future. In January 2007, the United States Food and Drug Administration (FDA) published preliminary regulations s for foods that could be labeled “gluten free.” Labeling will be voluntary. The FDA hopes to have these rules take effect by August 2008. This will make it easier for shoppers who must avoid gluten to find products they can safely eat. Meanwhile, people with celiac disease must be alert to “hidden” sources of gluten that often serve as binders or thickeners in commercially prepared foods. Some of these non-obvious sources of gluten that may appear on food labels are listed below.

• starch (type unspecified)
• modified food starch
• hydrolyzed vegetable protein (HVP)
• hydrolyzed plant protein (HPP)
• texturized vegetable protein (TVP)
• binders
• fillers
• extenders
• excipients (ingredients used in medications that do not have medicinal value, such as coatings of tablets. Consult a pharmacist or physician about whether before taking drugs, vitamins, etc.)
• malt

Some brands of commercially prepared french fries, potato chips, hot dogs, meatballs, gravy mixes, soups, soy sauce, and candy contain these hidden sources of gluten. Others are gluten-free. A nutritionist and dietitian can help people with celiac disease learn to read labels accurately to distinguish that foods are safe for them.

Therapy

Switching to a gluten-free diet requires major lifestyle changes. It can be especially hard on children and teens who want to be able to go out with their friends and eat pizza and fast food. Many people find Internet support groups are helpful in making the transition to a gluten-free diet.

Prognosis

The intestines of people with celiac disease who go on a gluten-free diet heal. In children the healing usually takes 3–6 months. In adults healing can take 2 years. The intestinal villi remain intact and function properly so long as the diet remains free of gluten, but the disease is never cured.

People who are not diagnosed or who do not stay on a gluten-free diet face increased chances of developing cancer of the intestine. They may also develop osteoporosis because of poor calcium absorption. Other vitamin and mineral deficiencies may contribute to a multitude of health problems. Untreated pregnant women have higher than normal rates of miscarriage and babies born with birth defects, especially neural tube defects, which arise from inadequate amounts of folic acid. Untreated children may have stunted mental and physical growth.

Prevention

Celiac disease is a genetic autoimmune disorder that cannot be prevented. Once diagnosed, the only way to prevent symptoms and complications is to follow a strictly gluten-free diet.

Resources

BOOKS

Green, Peter H. R. and Rory Jones/ Celiac Disease: A Hidden Epidemic New York: Collins, 2006.

Korn, Danna. Kids with Celiac Disease: A Family Guide to Raising Happy, Healthy, Gluten-Free Children Bethesda, MD: Woodbine House, 2001.

Korn, Danna. Living gluten-free for Dummies Hoboken, NJ: Wiley Pub., 2006.

Washburn, Donna and Heather Butt. The Best Gluten-Free Family Cookbook West Toronto, Ontario: Robert Rose, 2005.

ORGANIZATIONS

American College of Gastroenterology. P.O. Box 342260 Bethesda, MD 20827-2260. Telephone: (301) 263-9000. Website: <http://www.acg.gi.org>

Celiac Sprue Association. P. O. Box 31700, Omaha, NE, Telephone: (877)CSA-4CSA. Fax: (402) 558-1347. Website: <http://www.csaceliacs.org>

National Digestive Diseases Information Clearinghouse (NDDIC). 2 Information Way. Bethesda, MD 20892-3570. Telephone: (800) 891-5389. Fax: (703) 738-4929. Website: <http://digestive.niddk.nih.gov>

OTHER

Busschots, Ginette V. and Phyllis A. Vallee. “Sprue.” eMedicine.com, February 8, 2006. <http://www.emedicine.com/ped/topic2146emedicine.com/ped/topic2146.htm>

Celiac Disease Foundation. 13251 Ventura Blvd. ndash1, Studio City, CA 91604. Telephone: (818) 990-2354. Fax: (818) 990-2379. Website: <http://celiac.org>

“Celiac Disease and Gluten-free Diet Information.” Celiac.com. undated, accessed April 17, 2007. <http://www.celiac.com> (links to many articles).

Klapproth, Jan-Michael and Vincent W. Yang. “Celiac Sprue.” eMedicine.com, January 2, 2007. <http://www.emedicine.com/med/topic308.htm>

Mayo Clinic Staff. “Celiac Disease.” MayoClinic.com, December 14,, 2006. <http://www.mayoclinic.com/health/celiac-disease/DS00319>

Mayo Clinic Staff. “How Do I Fit in Grains?” MayoClinic.com, May 31, 2006. <http://www.mayoclinic.com/health/celiac-disease/AN00303>.

Medline Plus. “Celiac Disease.” U. S. National Library of Medicine, March 27, 2007. <http://www.nlm.nih/gov/medlineplus/celiacdisease.html>.

National Digestive Diseases Information Clearinghouse (NDDIC). “Celiac Disease.” March 2007. <http://digestive.niddk.nih.gov/diseases/pubs/celiac/index.htm>

Tish Davidson, A.M.

Celiac disease

Definition

Celiac disease is a disease of the digestive system that damages the small intestine and interferes with the absorption of nutrients from food.

Description

Celiac disease occurs when the body reacts abnormally to gluten, a protein found in wheat, rye, barley, and possibly oats. When someone with celiac disease eats foods containing gluten, that person's immune system causes an inflammatory response in the small intestine, which damages the tissues and results in an impaired ability to absorb nutrients from foods. The inflammation and malabsorption create wide-ranging problems in many systems of the body. Since the body's own immune system causes the damage, celiac disease is classified as an "autoimmune" disorder. Celiac disease may also be called sprue, nontropical sprue, gluten sensitive enteropathy, celiac sprue, and adult celiac disease.

Genetic profile

Celiac disease can run in families and has a genetic basis, but the pattern of inheritance is complicated. The type of inheritance pattern that celiac disease follows is called multifactorial (caused by many factors, both genetic and environmental). Researchers think that several factors must exist in order for the disease to occur. First, the patient must have a genetic predisposition to develop the disorder. Then, something in their environment acts as a stimulus to "trigger" their immune system, causing the disease to become active for the first time. For conditions with multifactorial inheritance , people without the genetic predisposition are less likely to develop the condition with exposure to the same triggers. Or, they may require more exposure to the stimulus before developing the disease than someone with a genetic predisposition. Several factors may provoke a reaction including surgery, especially gastrointestinal surgery; a change to a low fat diet, which has an increased number of wheat-based foods; pregnancy; childbirth; severe emotional stress; or a viral infection. This combination of genetic susceptibility and an outside agent leads to celiac disease.

Demographics

Celiac disease may be discovered at any age, from infancy through adulthood. The disorder is more commonly found among white Europeans or in people of European descent. It is very unusual to find celiac disease in African or Asian people. The exact incidence of the disease is uncertain. Estimates vary from one in 5,000, to as many as one in every 300 individuals with this background. The prevalence of celiac disease seems to be different from one European country to another, and between Europe and the United States. This may be due to differences in diet and/or unrecognized disease. A recent study of random blood samples tested for celiac disease in the United States showed one in 250 testing positive. It is clearly underdiagnosed, probably due to the symptoms being attributed to another problem, or lack of knowledge about celiac disease by physicians and laboratories.

Because celiac disease has a hereditary influence, close relatives (especially first degree relatives, such as children, siblings, and parents) have a higher risk of being affected with the condition. The chance that a first degree relative of someone with celiac disease will have the disease is about 10%.

As more is learned about celiac disease, it becomes evident that there are many variations which may not produce typical symptoms. It may even be clinically "silent," where no obvious problems related to the disease are apparent.

Signs and symptoms

Each person with celiac disease is affected differently. When food containing gluten reaches the small intestine, the immune system begins to attack a substance called gliadin, which is found in the gluten. The resulting inflammation causes damage to the delicate finger-like structures in the intestine, called villi, where food absorption actually takes place. The patient may experience a number of symptoms related to the inflammation and the chemicals it releases, and or the lack of ability to absorb nutrients from food, which can cause malnutrition.

The most commonly recognized symptoms of celiac disease relate to the improper absorption of food in the gastrointestinal system. Many patients with gastrointestinal symptoms will have diarrhea and fatty, greasy, unusually foul-smelling stools. The patient may complain of excessive gas (flatulence), distended abdomen, weight loss, and generalized weakness. Not all people have digestive system complications; some people only have irritability or depression . Irritability is one of the most common symptoms in children with celiac disease.

Not all patients have these problems. Unrecognized and untreated celiac disease may cause or contribute to a variety of other conditions. The decreased ability to digest, absorb, and utilize food properly (malabsorption) may cause anemia (low red blood count) from iron deficiency or easy bruising from a lack of vitamin K. Poor mineral absorption may result in osteoporosis, or "brittle bones," which may lead to bone fractures. Vitamin D levels may be insufficient and bring about a "softening" of bones (osteomalacia), which produces pain and bony deformities, such as flattening or bending. Defects in the tooth enamel, characteristic of celiac disease, may be recognized by dentists. Celiac disease may be discovered during medical tests performed to investigate failure to thrive in infants, or lack of proper growth in children and adolescents. People with celiac disease may also experience lactose intolerance because they do not produce enough of the enzyme lactase, which breaks down the sugar in milk into a form the body can absorb. Other symptoms can include, muscle cramps, fatigue, delayed growth, tingling or numbness in the legs (from nerve damage), pale sores in the mouth (called aphthus ulcers), tooth discoloration, or missed menstrual periods (due to severe weight loss).

A distinctive, painful skin rash, called dermatitis herpetiformis, may be the first sign of celiac disease. Approximately 10% of patients with celiac disease have this rash, but it is estimated that 85% or more of patients with the rash have the disease.

Many disorders are associated with celiac disease, though the nature of the connection is unclear. One type of epilepsy is linked to celiac disease. Once their celiac disease is successfully treated, a significant number of these patients have fewer or no seizures. Patients with alopecia areata, a condition where hair loss occurs in sharply defined areas, have been shown to have a higher risk of celiac disease than the general population. There appears to be a higher percentage of celiac disease among people with Down syndrome , but the link between the conditions is unknown.

Several conditions attributed to a disorder of the immune system have been associated with celiac disease. People with insulin dependent diabetes (type I) have a much higher incidence of celiac disease. One source estimates that as many as one in 20 insulin-dependent diabetics may have celiac disease. Patients with juvenile chronic arthritis, some thyroid diseases, and IgA deficiency are also more likely to develop celiac disease.

There is an increased risk of intestinal lymphoma, a type of cancer , in individuals with celiac disease. Successful treatment of the celiac disease seems to decrease the chance of developing lymphoma.

Diagnosis

Because of the variety of ways celiac disease can manifest itself, it is often not discovered promptly. Its symptoms are similar to many other conditions including irritable bowel syndrome, Crohn's disease, ulcerative colitis, diverticulosis, intestinal infections, chronic fatigue syndrome, and depression. The condition may persist without diagnosis for so long that the patient accepts a general feeling of illness as normal. This leads to further delay in identifying and treating the disorder. It is not unusual for the disease to be identified in the course of medical investigations for seemingly unrelated problems. For example, celiac disease has been discovered during testing to find the cause of infertility.

If celiac disease is suspected, a blood test can be ordered. This test looks for the antibodies to gluten (called antigliadin, anti-endomysium, and antireticulin) that the immune system produces in celiac disease. Antibodies are chemicals produced by the immune system in response to substances that the body perceives to be threatening. Some experts advocate not just evaluating patients with symptoms, but using these blood studies as a screening test for high-risk individuals, such as those with relatives (especially first degree relatives) known to have the disorder. An abnormal result points towards celiac disease, but further tests are needed to confirm the diagnosis. Because celiac disease affects the ability of the body to absorb nutrients from food, several tests may be ordered to look for nutritional deficiencies. For example, doctors may order a test of iron levels in the blood because low levels of iron (anemia) may accompany celiac disease. Doctors may also order a test for fat in the stool, since celiac disease prevents the body from absorbing fat from food.

If these tests are suspicious for celiac disease, the next step is a biopsy (removal of a tiny piece of tissue surgically) of the small intestine. This is usually done by a gastroenterologist, a physician who specializes in diagnosing and treating bowel disorders. It is generally performed in the office, or in a hospital's outpatient department. The patient remains awake, but is sedated. A narrow tube, called an endoscope, is passed through the mouth, down through the stomach, and into the small intestine. A small sample of tissue is taken and sent to the laboratory for analysis. If it shows a pattern of tissue damage characteristic of celiac disease, the diagnosis is established.

The patient is then placed on a gluten-free diet (GFD). The physician will periodically recheck the level of antibodies in the patient's blood. After several months, the small intestine is biopsied again. If the diagnosis of celiac disease was correct (and the patient followed the rigorous diet), healing of the intestine will be apparent. Most experts agree that it is necessary to follow these steps in order to be sure of an accurate diagnosis.

Treatment and management

The only treatment for celiac disease is a gluten-free diet. This may be easy for the doctor to prescribe, but difficult for the patient to follow. For most people, adhering to this diet will stop symptoms and prevent damage to the intestines. Damaged villi can be functional again in three to six months. This diet must be followed for life. For people whose symptoms are cured by the gluten-free diet, this is further evidence that their diagnosis is correct.

Gluten is present in any product that contains wheat, rye, barley, or oats. It helps make bread rise, and gives many foods a smooth, pleasing texture. In addition to the many obvious places gluten can be found in a normal diet, such as breads, cereals, and pasta, there are many hidden sources of gluten. These include ingredients added to foods to improve texture or enhance flavor and products used in food packaging. Gluten may even be present on surfaces used for food preparation or cooking.

Fresh foods that have not been artificially processed, such as fruits, vegetables, and meats, are permitted as part of a GFD. Gluten-free foods can be found in health food stores and in some supermarkets. Mail-order food companies often have a selection of gluten-free products. Help in dietary planning is available from dieticians (health care professionals specializing in food and nutrition) or from support groups for individuals with celiac disease. There are many cookbooks on the market specifically for those on a GFD.

Treating celiac disease with a GFD is almost always completely effective. Gastrointestinal complaints and other symptoms are alleviated. Secondary complications, such as anemia and osteoporosis, resolve in almost all patients. People who have experienced lactose intolerance related to their celiac disease usually see those symptoms subside as well. Although there is no risk and much potential benefit to this treatment, it is clear that avoiding all foods containing gluten can be difficult.

Experts emphasize the need for lifelong adherence to the GFD to avoid the long-term complications of this disorder. They point out that although the disease may have symptom-free periods if the diet is not followed, silent damage continues to occur. Celiac disease cannot be "outgrown" or cured, according to medical authorities.

Prognosis

Patients with celiac disease must adhere to a strict GFD throughout their lifetime. Once the diet has been followed for several years, individuals with celiac disease have similar mortality rates as the general population. However, about 10% of people with celiac disease develop a cancer involving the gastrointestinal tract (both carcinoma and lymphoma).

There are a small number of patients who develop a refractory type of celiac disease, where the GFD no longer seems effective. Once the diet has been thoroughly assessed to ensure no hidden sources of gluten are causing the problem, medications may be prescribed. Steroids or immunosuppressant drugs are often used to try to control the disease. It is unclear whether these efforts meet with much success.

Prevention

There is no way to prevent celiac disease. However, the key to decreasing its impact on overall health is early diagnosis and strict adherence to the prescribed glutenfree diet.

Resources

BOOKS

Lowell, Jax Peters. Against the Grain: The Slightly Eccentric Guide to Living Well without Wheat or Gluten. New York: Henry Holt, 1996.

PERIODICALS

Gluten-Free Living (bimonthly newsletter) PO Box 105, Hastings-on-Hudson, NY 10706.

Guest, Jean. "Wheat's Your Problem?" Diabetes Forecast 49 (August 1996): 44–51.

Pruessner, H. "Detecting Celiac Disease in Your Patients." American Family Physician 57 (March 1998): 1023–34.

ORGANIZATIONS

American Celiac Society. 58 Musano Court, West Orange, NJ, 7052. (201) 325-8837.

Celiac Disease Foundation. 13251 Ventura Blvd., Suite 1, Studio City, CA 91604-1838. (818) 990-2354. <http://www.cdf@celiac.org>.

Celiac Sprue Association/United State of America (CSA/USA). PO Box 31700, Omaha, NE 68131-0700. (402) 558-0600.

Gluten Intolerance Group. PO Box 23053, Seattle, WA, 98102-0353. (206) 325-6980.

National Center for Nutrition and Dietetics. American Dietetic Association, 216 West Jackson Boulevard, Suite 800, Chicago, IL, 60606-6995. (800) 366-1655.

WEBSITES

National Institute of Diabetes & Digestive & Kidney Diseases. <http://www.niddk.nih.gov/health/digest/pubs/celiac/index.htm>.

Amy Vance, MS, CGC