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News

Screening relatives for genetic markers of celiac disease

Data in February's Journal of Pediatric Gastroenterology & Nutrition show that celiac disease prevalence is high and suggest an accurate algorithm to select candidates for intestinal biopsy among celiac disease high-risk subjects.

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There is a high prevalence of celiac disease among relatives and complications of an undiagnosed celiac disease.

Dr Margherita Bonamico and her colleagues therefore identified a useful disease screening strategy.

The research team studied 441 first degree relatives of 208 celiac disease patients by immunoglobulin anti-endomysium antibodies.

The researchers also assessed radioimmunoprecipitation assay immunoglobulin anti-transglutaminase autoantibodies.

Of the participants, 364 were typed for human leukocyte antigen-DRB1, -DQA1, and -DQB1 genes.

Anti-transglutaminase autoantibodies were positive in 46 of 439 relatives
Journal Pediatric Gastroenterology & Nutrition

The team used the polymerase chain reaction sequence specific primers method.

It was suggested to the autoantibody-positive subjects that they should undergo intestinal biopsy.

The researchers found that anti-transglutaminase autoantibodies were positive in 46 of 439 relatives.

Antiendomysium antibodies were found in 38, and intestinal lesions related to celiac disease were present in 40 subjects.

There team also found 2 immunodeficient fathers with duodenal villous atrophy.

In 3 serology-positive subjects, permission for intestinal biopsy was refused.

The team noted that in another 3 serology-positive cases, duodenal mucosa was normal.

Thus, the strict celiac disease prevalence was 10%, and the enlarged prevalence was 11 %.

The DQ2/DQ8 heterodimers were carried in 231 of 364 subjects and in 38 of 40 biopsy-proven celiac patients.

The researchers observed that 3 DQ2-positive parents became positive to the serology during a long-lasting follow-up.

Dr Bonamico's team concluded, “On the basis of a carefully conducted study, celiac disease prevalence in our series was seen as very high.”

“These data suggest an accurate algorithm to select candidates for intestinal biopsy among celiac disease high-risk subjects.”

“First, an evaluation of the sensitive radioimmunoprecipitation assay anti-transglutaminase autoantibodies and of total immunoglobulin should be performed.”

“Then, an evaluation of the anti-transglutaminase autoantibodies, and the genetic study would be advisable 2 to 3 years later in negative subjects.”

“Those carrying the DQ2/DQ8 heterodimers should continue the serologic follow-up, while the others need a clinical follow-up."

J Ped Gastroenterol & Nutr 2006: 42(2): 150-4
17 February 2006

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