Serological Markers and HLA-DQ2 Haplotype Among First-Degree Relatives of Celiac Patients

FARR´E, CARME PhD
HUMBERT, PERE MD
VILAR, PERE MD
VAREA, VICENTE MD
ALDEGUER, XAVIER MD
CARNICER, JESUS MD
CARBALLO, MIGUEL PhD
GASSULL, MIQUEL ANGEL MD

From the Departments of Biochemistry, Genetics, and Gastroenterology, Hospital Sant Joan de Déu, Universitat de Barcelona; Department of Paediatrics, Consorci Hospitalari Parc Tauli Sabadell; and Department of Gastroenterology, Hospital Universitari Germans Trias i Pujol, Barcelona, Spain.

Manuscript received November 13, 1998; revised manuscript received April 20, 1999; accepted June 12, 1999.

The persons and institutions participating in the Catalonian Coeliac Disease Study Group are listed in the Appendix.

This work was supported by the Association of Patients with Coeliac Disease SMAP Celiacs de Catalunya and the Societat Catalana de Digestologia.

Address for reprint requests: Carme Farré, Department of Biochemistry, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950-Esplugues, Barcelona, Catalonia, Spain.

Digestive Diseases & Sciences 44(11):p 2344-2349, November 1999.

Serologic markers, HLA-DQ2 haplotype, and clinical features suggestive of celiac disease were studied to assess their diagnostic value in a multicentric study to detect celiac disease in 675 first-degree relatives of 227 celiac probands. Serum IgA-class anti-endomysium and IgA-class anti-gliadin antibodies were positive in 5.8% and 1.9% of relatives, respectively. HLA-DQ2 haplotype was present in 64% of relatives, and the overall rate of celiac disease diagnosed by intestinal biopsy was 5.5%. The frequency of HLA-DQ2 in the celiac patients and controls was 93% and 18%, respectively. The most frequent clinical features-diarrhea, anemia, food intolerance, and growth retardation-were not present in one third of the celiac disease relatives. We conclude that the assessment of IgA-class anti-endomysium antibodies alone seems a reasonable approach for screening celiac disease in relatives and cannot be replaced by an accurate clinical anamnesis. HLA-DQ2 haplotype may identify the population with a high genetic susceptibility to celiac disease.