Familial Benign Chronic Intrahepatic Cholestasis

Authors

  • Sten Eriksson,

    Corresponding author
    1. Department of Medicine, University of Lund, Malmo General Hospital, S-214 01 Malmo, Sweden and the Department of Medicine, Simrishamn Hospital, S-272 00 Simrishamn, Sweden
    • Sten Eriksson, Department of Medicine, Malmo General Hospital, S-214 01 Malmo, Sweden.
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  • Christer Larsson

    1. Department of Medicine, University of Lund, Malmo General Hospital, S-214 01 Malmo, Sweden and the Department of Medicine, Simrishamn Hospital, S-272 00 Simrishamn, Sweden
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Abstract

Three of four adult siblings in a family which was studied for three generations had clinical and/ or laboratory signs of slowly progressive intrahepatic cholestasis. Slight hyper pigmentation, facial hypertrichosis, and hypothyroidism were seen in affected individuals who also had prolonged increase in serum transaminase, γ-glutamyltranspeptidase, and alkaline phosphatase activities. Asymptomatic intervals were characterized by abnormal bromosulfophthalein retention, reduced N-demethylation capacity, elevated fasting total serum bile acid levels, and normal light microscopic findings. A high serum α-lipoprotein level was found in individuals affected with this hitherto unknown entity which appears to have an autosomal recessive mode of inheritance.

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