The Medical Minute: Celiac disease often is difficult to diagnose

October 21, 2004

By John Messmer
Penn State Milton S. Hershey Medical Center
Penn State College of Medicine

The name celiac (see'-lee-ak) disease sounds odd to anyone not familiar with anatomy. It also is called non-tropical sprue and the most appropriate name: gluten sensitivity enteropathy.

It actually is relatively rare, occurring in perhaps one in 250 Americans, but in people with a parent or sibling who has the disease, it can be as frequent as one in 22. The reason it is important is how much it acts like other more common diseases and the problems it can cause when untreated. Because it is uncommon, often does not have profound symptoms and mimics common problems, doctors may not think of it.

People with celiac disease develop antibodies to gluten, a protein found in many grains. When a person with celiac disease eats gluten-containing grain products, his or her immune system attacks the gluten while it is in the upper part of the small intestine. The reaction damages the intestine's inner surface where food and nutrients are absorbed. The healthy intestine contains millions of microscopic projections called villi (singular villus) which increase the surface area of the intestine. The villi are damaged by the immune system in celiac disease so they no longer can effectively do their job of passing nutrients into the bloodstream.

When food is not well absorbed, it can lead to cramps, bloating, gas, diarrhea and foul-smelling bowel movements. These are common symptoms in otherwise healthy people who do not have celiac disease. Because celiac disease is so rare, doctors may blame the symptoms on another cause, such as irritable bowel syndrome. However, celiac patients also have poor absorption of minerals, which can lead to anemia and osteoporosis. Children with celiac disease can grow poorly. Many people will develop joint pains, muscle cramps, fatigue, irregular menses, bone pain and behavioral symptoms, such as, depression and poor concentration. Some people develop a blistering skin rash and mouth sores. Seizures can occur from poor absorption of folic acid. Celiac patients have a higher risk of the very rare lymphoma of the intestine.

Celiac disease develops when a predisposed person consumes sufficient gluten for a long enough period of time. It can take many years to develop or may show up in childhood. When celiac disease is suspected, doctors can order blood tests for antibodies to gliadin, a part of the gluten molecule and to tissue transglutaminase, an enzyme involved in processing gluten and to antibodies which react with endomysium, the tissue covering muscle cells. If needed, the diagnosis can be confirmed by endoscopy, a procedure by which a gastroenterologist passes a small tube into the intestine and takes a tiny biopsy to look for the specific damage celiac disease causes.

Once diagnosed, people with celiac disease must avoid gluten for the rest of their lives. This means complete avoidance of grains: all forms of wheat (including kamut, spelt and triticale), rye and barley. Some people also must avoid oats. This means no bread, pasta or other baked goods made with these grains. Many processed foods contain grain derivatives in colorings and thickeners, making avoidance a challenge. Even some pills have starches that may contain gluten molecules. Celiac patients can eat vegetables, fruits, meat and fish. Bean, soy, rice and potato flour are used to prepare gluten-free baked products, including breads and pastas, at home and from commercial sources. Eating out may remain a challenge, but as awareness of the problem of celiac disease increases, restaurants may be able to identify gluten-free menu items.

On a gluten-free diet, symptoms usually improve in weeks, but could take longer if the disease has been untreated for years. Anemia, osteoporosis, vitamin deficiencies and poor growth improve as the intestines return to their normal absorptive capacity.

Many areas have celiac disease support groups and there are numerous information sources on the Web, including http://www.celiac.org http://www.csaceliacs.org and http://www.gluten.net

These and other sites can be accessed from the National Library of Medicine at http://www.nlm.nih.gov/medlineplus/celiacdisease.html

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Last Updated March 19, 2009