Celiac disease definition and facts
Celiac disease is a digestive intolerance to gluten, which is a common protein found in bread and other wheat products.
- In people with celiac disease, inflammation occurs in the small intestinal mucosa when it is exposed to gluten in the diet.
- Celiac disease is thought to be an autoimmune disorder and may have a familial or genetic component.
- The symptoms usually involve the digestive system and cause:
- However, there is a wide spectrum of symptoms that may occur.
- Because the intestine becomes inflamed, it may also lose its ability to absorb nutrients from the diet, leading to other associated illnesses.
- Treatment of celiac disease is following a strict gluten free diet.
- Celiac disease is also known by other names including celiac sprue, non-tropical sprue, and gluten enteropathy.
Celiac Disease Symptoms and Signs
Celiac disease is an uncommon disease in which your immune system attacks the cells lining the small intestine.
Signs and symptoms of celiac disease may include:
- gas (flatulence, farting),
- swollen ankles (edema),
- vitamin K deficiency, and
- excessive bruising and bleeding.
What is celiac disease? What causes it?
Gluten is a protein found in wheat, barley, and rye. In some people who are exposed to gluten in their diet, an enzyme called tissue transglutaminase changes the gluten into a chemical that causes an immune response, leading to inflammation of the lining of the small intestine. The normal fingerl-like projections (villi) that make up the lining of the intestine are blunted and destroyed, preventing the normal absorption of nutrients from the diet.
This malabsorption of vitamins, minerals, and other nutrients may lead to damage to other organs in the body, such as the liver, bone, and brain’ that depend on those nutrients to develop and function normally. In children, the lack of effective nutrition because of malnutrition may cause abnormal growth and development.
There seems to be a genetic predisposition to developing celiac disease, however not all people with a family history of celiac disease develop the condition. There may be another reason, yet discovered as to why the autoimmune response occurs.
In addition to family history, celiac disease seems to be more common in people with type 1 diabetes, microscopic colitis, Sjögren’s syndrome and autoimmune thyroid disease.
What are the signs and symptoms of celiac disease?
Diarrhea and weight loss because of malabsorption are the classic symptoms of celiac disease, but they occur in less than one-half of people with the disease. The symptoms vary widely in presentation and intensity. Often the symptoms are not related to the bowel function, but instead are due to the consequences of chronic malabsorption of vitamins and minerals, for example, people who complain of weakness, fatigue, joint pain, and are anemic (low blood cell count) because they cannot absorb iron in the diet.
Other symptoms of celiac disease may include:
Infants and children may have even less specific symptoms including diarrhea, constipation, weight loss, failure to thrive, and developmental delays.
What blood or other tests diagnose celiac disease?
The diagnosis of celiac disease is often delayed and it may take several months or years for the patient and the doctor to think of it as the cause of its many non-specific symptoms. History and physical examination may give direction as to the diagnosis, but commonly it take many visits with the patient complaining of recurrent abdominal pain, non-specific joint aches, or demonstrating chronic anemia that does not respond to iron treatment, to raise the suspicion that celiac disease is a possibility.
When the diagnosis is suspected, there is a two-step screening process to make the diagnosis:
- Blood test for immunoglobulin A anti-tissue transglutaminase antibody (IgA TTG). Testing for antiendomysial antibody may also be considered.
- If the screening blood test is positive, then endoscopy and biopsy of the lining of the duodenum (the first part of the small intestine) is recommended. Usually performed under sedation, a fiberoptic tube is passed through the mouth, through the esophagus and stomach into the duodenum and a small bit of tissue is taken to be examined under a microscope.
It is important that the patient eats a regular diet for many weeks before the testing procedures. If the patient has already started a gluten free diet, it may cause the tests to be falsely negative.
Once the diagnosis is made, screening for osteoporosis may be appropriate.
Since it is often familial, once one person in the family is diagnosed with celiac disease, it is reasonable to have other close family members screened.
What treatments and diets are available for celiac disease?
Currently, the only treatment for celiac disease and the inflammation of the small intestine caused by gluten protein exposure is a life-long gluten free diet.
What is latent celiac disease, and how is it treated?
Latent or potential celiac disease describes those people suspected of having the disease with a positive antibody blood test, but whose small bowel biopsy is normal. Currently, there is no indication to begin treatment with a gluten free diet, however, repeat biopsy might be considered if signs and symptoms develop or if symptoms of malabsorption are present.
What is silent celiac disease, and how is it treated?
Individuals may be screened for celiac disease and have both a positive antibody blood test and a positive small intestine biopsy, and yet have no symptoms. This is considered silent celiac disease and the recommendation is to perform further testing looking for malabsorption complications such as anemia and osteoporosis. A gluten free diet may be indicated if these tests are positive.
What is refractory celiac disease, and how is it treated?
While a gluten free diet tends to resolve symptoms in most individuals, in a small group of patients, the gluten free diet fails to control the symptoms including abdominal pain and malabsorption. These patients are considered refractory to diet treatment. It is important that other types of bowel disease, including Crohn’s disease are first excluded before making this diagnosis. If diet therapy fails to resolve symptoms, refractory celiac disease is often treated with the same medications used in other autoimmune disorders to decrease inflammation. These medications include corticosteroids (prednisone), azathioprine (Imurarn, Azasan) and cyclosporine.
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What is a gluten-free diet for celiac disease?
Gluten is a complex protein found in wheat, barley, and rye grains. A gluten free diet excludes exposure to any of the foods that have this protein in its ingredients. It is easy to understand that regular wheat bread or pizza dough has gluten in it. However, it is less easy to realize that wheat flour is often used in many processed foods and in recipes for many foods that are prepared in a restaurant. Moreover, for it to be considered completely gluten free, processed foods should be prepared in a kitchen or factory that has no cross contamination with grains containing gluten.
The Federal Drug Administration has published new guidelines that define gluten free food as having less than 20 parts per million of gluten. Regulations regarding food-labeling criteria require food to meet this standard to be labeled “gluten free.” It is important to read the labels for all foods products. Aside from a gluten free designation, there may be food allergy statements that discuss the factory or kitchen where the product was manufactured.
Many restaurants have gluten free menus or can accommodate the gluten free dietary needs of their customers, but it is important for the person to ask the server, manager, or cook directly about whether it contains gluten.
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What other medical problems are associated with celiac disease?
Celiac disease is thought to be an autoimmune disorder, meaning that the body develops antibodies against its own tissues. Researchers believe that other diseases may be related, and may affect organs such as the thyroid (autoimmune thyroiditis), the liver (primary biliary cirrhosis), and colon (microscopic colitis). Other diseases may include type 1 diabetes and dermatitis herpetiformis, a skin rash that has similar antibodies as celiac disease, but that are found in the skin.
Growth failure, delayed puberty, miscarriage and infertility may be associated with celiac disease.
What are the complications of celiac disease?
The inability to properly absorb vitamins, minerals, and nutrients from the diet can affect many organs in the body. Since the diagnosis of celiac disease is often delayed, there can be significant issues with iron deficiency anemia, osteoporosis because of decreased levels of calcium and vitamin D, and poor growth and development.
Aside from the other associated autoimmune disorders that might also be present, celiac disease is associated with an increased incidence of lymphoma and small intestine cancer. This risk is reduced in patients who maintain a strict gluten free diet.
Medically Reviewed on 6/25/2020
Gluten-Free Labeling of Foods. FDA. Updated: Jul 16, 2018.
Leonard MM, et al. Celiac disease and nonceluac gluten sensitivity: a review. JAMA. 2017 Aug 15;318(7):647-656
Rubio-Tapia A. et al. ACG clinical guideline: diagnosis and management of celiac disease. Am J Gastroenterol. 2013; 108(5).
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