Should your family be tested?

Genetic Testing for Celiac Disease


Prevalence of celiac disease among relatives of sib pairs with celiac disease in U.S. families


Prevalence of celiac disease in at-risk and not-at-risk groups in the United States:
a large multicenter study

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Ideally, all first and second degree relatives of anyone who has Celiac Disease should be screened for the condition. This includes parents, children, brothers and sisters, grandparents, granchildren, aunts, uncles, nephews, nieces and cousins.

First-degree relatives' chances of having Celiac Disease have been found to be from about 5% to 20% in various studies. In a recent ongoing community study conducted by Mayo Clinic researchers in Minnesota, 10% of tested first-degree relatives were found to have undiagnosed CD. Blood tests detected most of the relatives with CD, however, 4/41 patients were found to have Celiac Disease based on biopsy alone. These patients had one of the genes associated with CD (DQ2 or DQ8) and symptoms of CD. They were biopsied in spite of negative blood tests. (Murray, p.49)

The symptoms of CD can vary greatly between family members, so that it is truly difficult to recognize. With the multitude of possible symptoms, and even cases that do not show symptoms (yet), the best way to handle this is through screening of all family members. The following is a recent abstract on the subject:

Diverse Clinical Presentations of Celiac Disease in the Same Family

Rev Esp Enferm Dig. 2004 Sep;96(9):612-619

Rodrigo L, Riestra S, Fuentes D, Gonzalez S, Lopez Vazquez A, Lopez Larrea C.

We performed a family study to evaluate a total of 34 extended family members (8 siblings, 23 children and nephews, and 3 grandchildren) of an adult patient with celiac disease (CD), a 58- year-old male with severe neurologic involvement manifested as myoclonias. We found 3 other members affected with CD (a 44-year old sister, a 39-year old niece, and a 26-year old nephew). Two of them were completely asymptomatic and all had hypertransaminasemia. All exhibited a villous atrophy pattern of the duodenal mucosa (1 mild, 1 moderate, 1 severe). Overall family involvement was 11.8% (4/14). We wish to emphasize the need to perform extended family studies when diagnosing a case of CD, since risk is not restricted to only first-degree relatives