[Familial autoimmune pathology comprising 2 cases of primary biliary cirrhosis]

Two cases of primary biliary cirrhosis (PBC) were observed in two brothers. Clinical, biochemical, immunological and genetic investigations (in particular by HLA typing) were systematically undertaken in nine subjects of this family (including the two above mentioned cases) in two generations. One case of granulomatous hepatitis associated with auto-immune thyroiditis was discovered in a sister. Immunological abnormalities were observed in six out of nine members of the family: anti-nuclear (four cases), anti-mitochondrial (two cases), anti-thyroid (two cases), auto-antibodies and rheumatoid factors (two cases). Six subjects (including the three with hepatic disease) had the same HLA haplotype (with in particular HLA DR4, which has been previously associated with sporadic PBC). However, the role of this haplotype in the transmission of PBC in a family could not be demonstrated. Biochemical and immunological survey might be of importance in the kindred of patients with PBC, thereby contributing to the screening of asymptomatic hepatic disease.