Primary biliary cirrhosis in brothers

Abstract

Summary This is the first report of two brothers who demonstrated the classical clinical course, histology, biochemistry and auto-antibodies of primary biliary cirrhosis. Both also exhibited an associated keratoconjunctivitis sicca and, in one, renal tubular acidosis resulted in severe systemic acidosis after lactulose therapy and with a subsequent intraperitoneal variceal rupture. Screening of the relatives recalled a high incidence of ‘auto-immune’ disease and auto-antibodies.

Primary Biliary Cirrhosis: Family Stories

“…Although rare in males, some cases of PBC occurring among male relatives have been reported. Early case reports have included PBC in a set of brothers [ 80 ]; however, it is uncertain whether this was indeed a case of familial PBC, as the diagnostic robustness in these early case reports is questionable. Tanaka et al [ 81 ] cite two case studies of PBC occurring in brothers (one set in England, the other in France); however, the AMA status and clinical course of the two pairs remains obscure.…”

The Natural History of Primary Biliary Cirrhosis

“…Many instances of the occurrence of PBC in more than one member of a family have been reported. These include sisters [10,30,77], brothers [8,22] and twins [ l l ] and mother [16] or father [30,32] and child. We have seen three sets of sisters, two sets of brothers, a sister and brother and a mother and daughter.…”

Sex Differences Associated with Primary Biliary Cirrhosis

“…The only twin study conducted in PBC consisted only of female pairs [ 95 ]. Brown and colleagues report PBC in a set of brothers, although the diagnosis in these early cases is questionable [ 116 ]. Tanaka et al [ 117 ] notes two sets of brothers with PBC (one set in Britain and the other in France) in addition to several father-daughter and two brother-sister pairs.…”