title: Serological markers and HLA-DQ2 haplotype among first-degree relatives of celiac patients. Catalonian Coeliac Disease Study Group.
abstract: 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.
authors.affiliation: Department of Biochemistry, Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Farré
authors.forename: P
authors.initials: P
authors.lastname: Humbert
authors.forename: P
authors.initials: P
authors.lastname: Vilar
authors.forename: V
authors.initials: V
authors.lastname: Varea
authors.forename: X
authors.initials: X
authors.lastname: Aldeguer
authors.forename: J
authors.initials: J
authors.lastname: Carnicer
authors.forename: M
authors.initials: M
authors.lastname: Carballo
authors.forename: M A
authors.initials: MA
authors.lastname: Gassull
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D002446:Celiac Disease / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D005903:Gliadin / Q000276:immunology; D006683:HLA-DQ Antigens / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D008297:Male; D009210:Myofibrils / Q000276:immunology; D010375:Pedigree; D015995:Prevalence
chemical_list: D015415:Biomarkers; D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; D007070:Immunoglobulin A; D005903:Gliadin