Childen's Hospital Boston 300 Longwood Avenue
Boston, MA 02115
(617) 355-6000
X
Clinical Services (Celiac Disease Program and Support Group):
Screening for Celiac Disease
Q & A with Dr. Leichtner
Q: My 8-year old son was recently diagnosed with celiac disease. What is the best screening test for his 4-year old brother who has been completely healthy and growing well?
Image
Alan Leichtner, M.D., Associate Chief, Division of Gastroenterology and Nutrition, Children's Hospital Boston
A:I usually recommend starting with an anti-endomysial antibody, an anti-tissue transglutaminase antibody, and a total IgA level to look for active celiac disease. If the antibody levels are elevated, he probably has active celiac disease and the next step is an endoscopy to obtain a small bowel biopsy.

If the antibody tests are negative and the IgA level is normal, one alternative is to re-screen him at intervals, perhaps every three to five years, and certainly if he develops symptoms. The other alternative is to recommend celiac genetic testing (to look for HLA DQ2 or DQ8). Negative genetic testing makes it extremely unlikely that he will ever develop celiac disease and future antibody testing would be unnecessary.

If the antibody tests are negative and the IgA is low, the antibody tests are unreliable. Special antibody tests can be performed that measure IgG antibodies rather than IgA antibodies, but the accuracy of these tests has not been well established. In this case, the genetic testing would also make sense. Because the genetic testing is expensive, it is important to make sure that your insurance company will pay for the test before it is done.

Q: I also have a daughter who is three months old. What is the earliest age you would recommend screening a child for celiac disease?
A: Celiac disease does not develop until an individual is exposed to gluten in the diet, so babies who have not had cereal need not be screened. Any infant or older child who is eating gluten and who has symptoms suggestive of celiac disease should be screened. Children with a family history of celiac disease, but no symptoms should not be screened before age 2 years. Preliminary information suggests that antibody tests will be negative before that age in asymptomatic children with celiac disease.
Q: Which other members of my family should be screened?
A: You and your husband should be screened, regardless of whether you have symptoms. Asymptomatic second degree relatives (grandparents, aunts, uncles, and cousins) are also at increased risk, but whether screening should be done is controversial. Certainly, any family members with typical or atypical symptoms of celiac disease should be screened.
X
X The information on this website should not be taken as medical advice,
which can only be given to you by your personal health care professional.
X
X Copyright © Children's Hospital Boston. All rights reserved.