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Celiac disease: Not that rare?

We’re used to thinking of whole grains as good for our health. Not so for people with celiac disease (CD), also known as celiac sprue. CD is a genetically based disorder that damages the small intestine and may result in debilitating symptoms. CD is often thought of as rare in the United States , but a 2003 study challenges this assumption. The findings may have important implications for medical practice.

One cause, many consequences, one treatment

When people with CD eat foods containing gluten — a protein found in wheat, rye, and barley — their immune systems attack and destroy the tiny finger-like projections lining the small intestine (villi). Symptoms include abdominal pain and gas, chronic diarrhea, weight loss, bone pain, and seizures. Without villi, the intestine can’t absorb nutrients properly, which can result in anemia, malnutrition, and osteoporosis. Complications include short stature, nerve damage, skin rashes, and impaired fertility. Untreated CD also increases the risk for two types of cancer, small intestinal lymphoma and adenocarcinoma.

In diagnosing CD, a simple blood test for higher-than-normal levels of antibodies to gluten (antigliadin, antiendomysium, and antireticulin) is the first step. If the test is positive, a biopsy can confirm the diagnosis. Treatment is straightforward: a gluten-free diet. The diet can be challenging but following it can lead to symptom improvement within days, and the intestinal villi are often restored within 3–6 months.

Study uncovers many cases

In a large, multicenter screening study, scientists at the University of Maryland ’s Center for Celiac Research tested the blood of more than 9,000 patients who had either CD-associated symptoms or disorders, or a family history of CD. They also tested more than 4,000 others whose blood had been collected for reasons unrelated to CD screening.

The research, reported in the February 10, 2003, Archives of Internal Medicine, found that 1 in 22 people who had close relatives with CD also had the disease themselves — although 40% had no obvious symptoms. The disease also occurred in 1 in 133 people who had neither symptoms nor relatives with CD. This may mean that more than 1 million people in the United States have CD, but only about 1 in 4,700 have been diagnosed. Of the study participants with positive blood tests who had a biopsy (33%), all had confirmed CD.

Because it can take a long time to get a proper diagnosis — some research suggests 10–12 years — the Maryland investigators recommend screening for relatives of people with CD, people with CD-associated symptoms, and those with CD-associated disorders such as anemia and infertility.

April 2004 Update

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