Familial Benign Chronic Intrahepatic Cholestasis

✍ Scribed by Sten Eriksson; Christer Larsson

• Book ID: 102848268
• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 895 KB
• Volume: 3
• Category: Article
• ISSN: 0270-9139
• DOI: 10.1002/hep.1840030318

✦ Synopsis

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 hyperpigmentation, facial hypertrichosis, and hypothyroidism were seen in affected individuals who also had prolonged increase in serum transaminase, gamma-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 alpha-lipoprotein level was found in individuals affected with this hitherto unknown entity which appears to have an autosomal recessive mode of inheritance.