Serological markers and HLA genes among healthy first-degree relatives of patients with coeliac disease.
Coeliac disease may remain undiagnosed because of the non-specific nature of the presenting symptoms. Several antibody tests are claimed as markers for this condition but a direct comparison of the available tests has not been reported. The probands and healthy first-degree relatives of 42 families with coeliac disease were studied. Histological examination of biopsy specimens revealed jejunal mucosal villous atrophy compatible with coeliac disease in 13 of 122 relatives. Reticulin-antibody-positive relatives with or without jejunal mucosal atrophy were genetically similar to the probands of the families (DR3 gene frequencies 55.3%-60.0%). Gliadin-antibody-positive relatives with normal mucosa were genetically different from the probands (DR3 gene frequency 16.7% versus 55.3%). IgA reticulin and endomysium antibodies detected 92.3% of subjects with silent coeliac disease. The only case that was missed had selective IgA deficiency and was positive for IgG-class reticulin antibodies. By contrast, gliadin antibodies detected only half of the cases. Follow-up of the 7 reticulin-antibody-positive relatives with normal mucosa revealed 2 further cases of coeliac disease and 1 of dermatitis herpetiformis during the next three years. Our family study shows that healthy reticulin-antibody-positive first-degree relatives of coeliac disease patients, irrespective of the state of the jejunal mucosa, are genetically similar to known coeliac disease patients. Reticulin-antibody positivity is an indicator of both silent and latent coeliac disease.
Mäki
M
M
Department of Clinical Sciences, University of Tampere, Finland.
Holm
K
K
Lipsanen
V
V
Hällström
O
O
Viander
M
M
Collin
P
P
Savilahti
E
E
Koskimies
S
S
D000906:Antibodies / Q000097:blood*; D015415:Biomarkers; D002446:Celiac Disease / Q000235:genetics* / Q000276:immunology* / Q000473:pathology; D005260:Female; D005903:Gliadin / Q000276:immunology; D006680:HLA Antigens / Q000235:genetics* / Q000276:immunology; D006239:Haplotypes; D006801:Humans; D007583:Jejunum / Q000473:pathology; D008297:Male; D012155:Reticulin / Q000276:immunology
D000906:Antibodies; D015415:Biomarkers; D006680:HLA Antigens; D012155:Reticulin; D005903:Gliadin