Celiac Disease Underdiagnosed, According to NIH Consensus Report
Celiac disease, a disorder that affects the gastrointestinal tract, is underdiagnosed and may affect 1 percent of the general population, according to a Cincinnati Children's Hospital Medical Center physician.
Mitchell Cohen, MD, a physician in the Division of Gastroenterology, Hepatology and Nutrition, was a member of an NIH-sponsored conference panel that authored a consensus statement on celiac disease. The panel assessed available scientific evidence and announced recommendations for the diagnosis and management of the disease.
Celiac disease is an immune-mediated disorder that affects primarily the gastrointestinal tract. Dietary proteins present in wheat, barley and rye, commonly known as glutens, cause intestinal injury to certain genetically susceptible individuals.
Heightened physician awareness of this underdiagnosed disease may lead to earlier diagnosis and better patient outcomes, according to Dr. Cohen.
According to the report of the consensus panel, clinical manifestations of celiac disease are highly variable, occur at any age and involve multiple organ systems. The classic presentation of diarrhea and malabsorption is no longer the most common form of the disease.
Individuals with gastrointestinal symptoms, including chronic diarrhea, malabsorption, weight loss and abdominal distention, should be tested for celiac disease. Because the disease is a multisystem disorder, physicians should be aware of other conditions for which testing should be considered, such as iron deficiency anemia, unexplained short stature and delayed puberty.
As a result of advances in understanding the multisystem nature of the disease and the availability of specific tests that aid in diagnosis, experts now believe that the prevalence of celiac disease may be in the range of 0.5 to 1.0 percent of the general population. Incidence is higher in first-degree relatives of individuals with proven celiac disease and in individuals with type I diabetes and Down syndrome.
Diagnostic tests must be performed while the patient is on a gluten-containing diet. The first step in diagnosis is a serologic test. Based on very high sensitivities and specificities, the best available tests are the IgA antihuman tissue transglutaminase (TTG) and IgA endomysial antibody immunoflluorescence (EMA) tests. Positive tests should be followed by biopsies of the proximal small bowel. A presumptive diagnosis of celiac disease can be made based on serology and biopsy results. Definitive diagnosis is confirmed when symptoms resolve with a gluten-free diet.
The panel identified six key elements in management of celiac disease:
- Consultation with a skilled dietitian
- Education
- Lifelong adherence to a gluten-free diet
- Identification and treatment of nutritional deficiencies
- Access to an advocacy group
- Continuous long-term follow-up by a multidisciplinary team
"Members of the division of Gastroenterology, Hepatology and Nutrition are expert in the diagnosis of celiac disease and are available to help with diagnosis and management of patients with this condition," says Dr. Cohen.
More information is available on the web at: http://consensus.nih.gov/cons/118/118cdc_intro.htm.
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Contact Information
Jim Feuer,
jim.feuer@cchmc.org, 513-636-4656
