Forms and Instructions
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Celiac disease is a condition in which the immune system responds abnormally to a protein called gluten, which can cause damage to the lining of the small intestine. Gluten is found in wheat, rye, barley and a multitude of prepared foods. Celiac disease is also known as gluten sensitive enteropathy, celiac sprue, and nontropical sprue. The cause of celiac disease was unexplained until the Dutch pediatrician Willem K. Dicke recognized an association between the consumption of bread and cereals and relapsing diarrhea. This observation was corroborated when, during periods of food shortage in the Second World War, the symptoms of his patients improved once bread was replaced by non-cereal-containing foods; this finding confirmed the benefit of earlier, empirical diets that used pure fruit, potatoes, banana, milk, or meat. The small intestine is responsible for absorbing food and nutrients. Thus, damage to the lining of the small intestines can lead to difficulty absorbing necessary nutrients; this problem is referred to as malabsorption. Although celiac disease cannot be cured, avoiding gluten usually stops the damage to the intestinal lining and the malabsorption that results. Celiac disease can occur in people of any age and it affects both genders.
The disorder is common, occurring in one percent of the general population in most countries. However, the prevalence of celiac disease is substantially increased in the following groups as compared to the general population: First- and second-degree relatives of patients with celiac disease, Down syndrome, Type 1 diabetes, IgA deficiency, Turner syndrome, Williams syndrome and Autoimmune thyroiditis.
Signs and Symptoms The signs and symptoms of malabsorption vary from one person to another. In its mildest form, there may be no symptoms whatsoever. Even in people who have no symptoms, there may be evidence of malabsorption on laboratory testing. As an example, a low blood count may develop as a result of decreased iron absorption. Other people have more bothersome symptoms, including diarrhea, weight loss, abdominal discomfort, excessive gas, osteoporosis, and other signs and symptoms due to deficiencies of specific vitamins and nutrients. The disease may cause either constipation or diarrhea. Flatulence and abdominal distension (caused by colonic bacterial digestion of malabsorbed nutrients) are common. These symptoms may be accompanied by the consequences of malabsorption, such as growth failure, weight loss, severe anemia, neurologic disorders from deficiencies of B vitamins, and osteopenia from deficiency of vitamin D and calcium.
Causes It is not clear why some people develop celiac disease. Genetic factors are clearly important and people who inherit specific genes that regulate the immune response (HLA DQ2 and HLA DQ8) have a higher risk of celiac disease than people without these genes. However, other factors are also important since only a minority of individuals who are DQ2 or DQ8 positive actually develop celiac disease.
Diagnosis Celiac disease can be difficult to diagnose because the signs and symptoms are similar to other conditions. Fortunately, testing is available that can distinguish celiac disease from other disorders. Blood tests: A simple blood test is available to determine the blood level of antibodies (proteins) that become elevated in people with celiac disease. Before having these tests, it is important to continue eating a normal diet, including foods that contain gluten. Avoiding or eliminating gluten could cause the antibody levels to normalize. Over 90 percent of people with untreated celiac disease have elevated antibody levels, while these levels are rarely elevated in those without celiac disease.
Small intestine biopsy: If the blood tests are positive, the diagnosis must be confirmed by examining a small sample of the intestinal lining with a microscope. The sample (called a biopsy) is usually collected during an upper endoscopy, a test that involves swallowing a small flexible instrument with a camera. The biopsy is not painful. In people with celiac disease, the lining of the small intestine has a unique appearance when viewed with a microscope. Normally, the lining has distinct finger-like structures, which are called villi. Villi allow the small intestine to absorb nutrients. The villi become flattened in people with celiac disease. Once gluten is removed from the diet, the villi can resume a normal growth pattern. One way to determine if the gluten-free diet is working is to monitor the levels of endomysial and tissue transglutaminase antibodies in the blood. The levels should decline on the gluten-free diet, which indicates that the diet has been effective.
Testing for malabsorption: Patients with celiac disease should be tested for nutritional deficiencies. Recommended tests include a blood count, iron, folic acid, vitamin B12, calcium, and vitamin D. Testing for bone loss or osteoporosis is highly recommended in Celiacs using a DEXA (dual energy x-ray absorptiometry) scan to measures the bone density.
Treatment Gluten-free diet: The cornerstone of treatment for celiac disease is complete elimination of gluten from the diet. Patients who are malnourished because of the disease may also need nutritional supplements. Maintaining a gluten-free diet can be a difficult task that requires major lifestyle adjustments. Gluten is contained in the most commonly consumed grains in the Western world (wheat, rye, and barley) and is included as an additive in a large number of prepared foods. Strict gluten avoidance is recommended since even small amounts can aggravate the disease. Foods containing wheat, rye, and barley should be avoided. Dairy products may not be well tolerated initially since many patients with celiac disease can have secondary lactose intolerance. As a result, lactose-containing products should initially be avoided in patients whose symptoms appear to be worsened by them.
Fortunately, life on a gluten-free diet has become increasingly easier due to the popularity of gluten-free foods. Excellent gluten-free substitute foods are now widely available. People who have no symptoms of celiac disease often find it difficult to follow a strict gluten-free diet. However, certain factors support a gluten-free diet, even in those without symptoms: Strictly following a gluten-free diet helps a person to feel more energetic and have an improved sense of health and well being. Despite feeling well, some patients with celiac disease have vitamin or nutrient deficiencies. These deficiencies often cause symptoms if gluten is not eliminated (such as anemia due to iron deficiency or bone loss due to vitamin D deficiency). Untreated celiac disease can increase the risk of certain types of gastrointestinal cancer. This risk can be reduced by adhering to a gluten-free diet. Pregnant women with untreated celiac disease are at increased risk for having a newborn who is smaller than normal.
Implications for the Family Families also need to be aware of their increased risk of celiac disease. Thus, first-degree relatives (parents, brothers, sisters, children) of a person with celiac disease should consider being tested. Testing is typically done with a blood antibody test, as described above.
Dr. Iqbal is a gastroenterologist at Longmont Clinic. She maintains an active clinical and research interest in Celiac Disease and is the medical advisor for the Boulder County Chapter of Celiac Sprue Association (CSA). Dr. Iqbal joined the staff of Longmont Clinic in October 2003. She can be reached at 720-494-3123.
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