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Clinical Decisionmaking

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Diagnosis of celiac disease can be an exercise in clinical problem-solving

In celiac disease, which affects nearly 1 percent of the population, the lining of the small intestine is damaged due to ingestion of gluten and similar proteins found in wheat. In the United States, iron-deficiency anemia is the most common presentation of celiac disease. However, symptoms can range from joint pain, fatigue, and diarrhea to depression and stomach pain and bloating.

Doctor's lack of awareness of these diverse clinical manifestations of celiac disease may lead them to miss the diagnosis, suggests Sanjay Saint, M.D., M.P.H., of the University of Michigan Medical School. In a recent description of a clinical case, Dr. Saint and his colleagues illustrate how celiac disease can lead to diagnostic confusion, especially if the patient doesn't have chronic diarrhea and fat malabsorption.

A 42-year-old white man recently released from prison had a history of 8 months of pain in his low back, hips, ankles, and feet. Therapy with nonsteroidal antiinflammatory medication provided no significant improvement. He otherwise felt well, but he had lost weight without a change in diet. He had no fever, night sweats, diarrhea, anorexia, vomiting, abdominal distension, or difficulty swallowing. In this case, the patient did not report two of the symptoms—abdominal pain and diarrhea—widely believed to be essential to the diagnosis of celiac disease.

Nevertheless, the man's history would have suggested celiac disease to the experienced clinician. For instance, only about one-third of patients with celiac disease present with either abdominal pain or diarrhea, yet this patient had iron-deficiency anemia, which is typical of the disease. Add in weight loss, bone pain, and a history of hypothyroidism, and one could argue that celiac disease becomes the most likely possibility. The high prevalence of the disease (nearly 1 in 100 in the general population) provides additional support for this argument. This work was supported in part by the Agency for Healthcare Research and Quality (HS11540).

See "Special cure," by Robert J. Hoffman, M.D., Gurpreet Dhaliwal, M.D., Daniel J. Gilden, M.D., and Dr. Saint, in the November 4, 2004, New England Journal of Medicine 351(19), pp. 1997-2002.

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