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© 1993 British Society for Rheumatology

brief-report

FAMILIAL SCLERODERMA: HLA ANTIGENS AND AUTOANTIBODIES

M. HIETARINTA*,, S. KOSKIMIES{dagger}, O. LASSILA{ddagger}, E. SOPPI§ and A. TOIVANEN*

*Department of Medicine, Turku University Central Hospital Turku, Finland
{dagger}Finnish Red Cross Blood Transfusion Service Helsinki, Finland
{ddagger}Department of Medical Microbiology, University of Turku Turku, Finland
§Division of Clinical Immunology, University Hospital of Tampere Tampere, Finland

Correspondence to: Correspondence to M. Hietarinta, Department of Medicine, Turku University Central Hospital, 20520 Turku, Finland

We report clinical and serological findings as well as the results of extended (HLA-A, B, C, DR and complotype) haplotype determinations of a family with two cases of systemic scleroderma and one case of primary biliary cirrhosis and incomplete CREST syndrome in a sibship of eight. In addition, one of these eight siblings has showed immunological findings of autoimmune disease for years but has not developed clinical symptoms. This family was studied by Soppi et al. in 1982; one member of the family has since then developed primary biliary cirrhosis and incomplete CREST type scleroderma.

All family members with scleroderma or related disease as well as their sister with immunological abnormalities share the A2; B8; DR3 haplotype. Also some members of the family share the same haplotype but have remained healthy. This haplotype seems to be a predisposing factor but additional genetic or environmental factors are probably necessary for expression of autoimmune disease.

KEY WORDS: Scleroderma, Systemic sclerosis, Familial occurrence, HLA-DR antigens


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