Familial Form of Benign Idiopathic Recurrent Cholestasis

Abstract

SINCE 1959, several reports have described a condition characterized by intrahepatic obstructive jaundice occurring at frequent intervals in the absence of any identifiable etiological factor.^1-7The condition may be distinguished from the congenital idiopathic hyperbilirubinemias of Gilbert and Lereboullet⁸and of Crigler and Najjar⁹by the fact that the bilirubin is predominantly in the conjugated form and the urine is heavily loaded with bile during episodes of jaundice. The serum bilirubin concentration is elevated beyond the range encountered in other idiopathic hyperbilirubinemias without conjugation defects, and the serum alkaline phosphatase (SAPase) activity is invariably abnormal when the patient is jaundiced, and sometimes grossly so, in contrast to the normal or low values usually found in the syndromes of Dubin and Johnson¹⁰and of Rotor.¹¹Unlike the Rotor syndrome, the histological appearance of the liver during an episode of jaundice is abnormal, but the "lipochrome-like material"