ABSTRACT
Primary biliary cirrhosis [PBC] is a chronic autoimmune disease of unknown cause that leads to destruction of intrahepatic ducts leading to ductopenia, fibrosis and ultimate biliary cirrhosis. Autoimmunity and autoimmune diseases were reported in family members of PBC patients. The aim of the present study was to investigate the prevalence of biochemical and immunological abnormalities and autoimmune diseases in first degree relatives [FDR] of patients with PBC. This study included: [1] A female [45 years old] patient diagnosed as having PBC, [2] Five FDR [3 females and 2 males] and [3] Fifteen blood donors [3 females and 12 males] were taken as a control group. Blood samples were taken from all subjects for the detection of nitric oxide [NO], transaminases [AST and ALT], alkaline phosphatase [ALP], total protein and albumin by colorimetric methods. Indirect immunofluorescent techniques were used for the detection of anti-nuclear antibodies [ANA], anti-smooth muscle antibodies [ASMA], anti-actin antibodies [AAA], anti-liver/kidney microsomes antibodies [LKM-I] and anti-mitochondrial antibodies [AMA]. Serum IgM was detected by radial immunodiffusion. Anti-SSA, anti-SSB and IgM rheumatoid factor [IgM RF] were detected by enzyme linked immunosorbent assays. Our PBC patient had a marked increase serum ALP level and a mild elevation in transminases. After treatment, serum ALP level dropped markedly [but still elevated] while the transaminases did not show a remarkable change. A marked elevation was noted in the serum levels of total globulins before and after treatment. A detectable decrease in the level of serum IgM was found after treatment. NO level of our patient was elevated [7 micro moI/L] at presentation while after treatment the level of NO returned to the normal level. AMA titer of our patient was 1/20 which considered a low titer. ANA titer was the same [1/40] before and after treatment. HCV antibodies, HBsAgs and other autoantibodies were absent before and after treatment. The titer of ASMA dropped from 1/160 to 1/40 after treatment. The pattern of these ASMA was the Vessels [V] pattern. In the FDR, the level of NO was elevated in sister-2, son-1 and the daughter. The AST ALT, ALP, total protein and albumin were normal in all subjects. Serum total globulins and IgM were elevated in sister-1, sister -2 and son-1. The ANA titer was 1/40 with a speckled pattern in all FDR. AAA, anti-SSA, anti-SSB, AMA, HBs Ag were negative in all FDR with the exception of sister-2 while had a positive anti-SSB. The ASMA were positive with the same pattern with varying titers. HCV antibodies were positive only in son-1 while was also the only FDR- to have autoantibodies to LKM-1. Sister-1 and sister-2 were diagnosed as a seropositive rheumatoid arthritis [RA] about 2 and 2.5 years after the development of PBC in our patient. The 15 blood donors showed a normal results except subjects 6 and 11 who had ASMA with a titer of 1/20 and subject 7 who had a positive ANA [titer l/40]. An autoimmune disease [RA] developed in two sisters of the PBC patient. Predictors of autoimmune diseases like elevated NO, LKM-1 and SSB antibodies are common in the FDR of a patient with PBC. Follow up of such subjects with these autoimmune predictors is recommended