Familial form of benign idiopathic recurrent cholestasis

Abstract

A family is described of whom 3 brothers have had recurrent attacks of obstructive jaundice. Two of the subjects were studied. No etiological factor could be elucidated. Jaundice usually followed an influenzal illness and was accompanied by hepatomegaly and preceded by a period of intense pruritis lasting 1-3 weeks. Very high values for serum bilirubin and serum alkaline phosphatase (SAPase) activity were encountered, but other serum enzymes underwent little change, suggesting that liver cell damage was minimal. Complete recovery from each attack has taken place. Cholestyramine resin in a dosage of 12 gm/day relieved pruritis. On 2 occasions jaundice cleared shortly after starting therapy, on another occasion jaundice persisted but at a lower level than previously, and one incipient attack may have been abolished by the drug. Changes in serum bilirubin were frequently preceded by similar changes in serum total bile acids. These 3 cases represent a familial form of idiopathic recurrent cholestasis, and that inheritance may be by a sex-linked recessive gene.