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Familial intrahepatic cholestatic cirrhosis in young adults

J Haratake, A Horie, N Ishii

    Gastroenterology
    |July 1, 1985
    PubMed

    Insights

    This study presents two siblings with intrahepatic cholestatic cirrhosis, a rare liver disease. The findings suggest hypoplasia of intrahepatic biliary trees as a potential cause for this progressive cirrhosis.

    Area of Science:

    • Hepatology
    • Genetics
    • Pediatric Gastroenterology

    Background:

    • Presents a familial case of intrahepatic cholestatic cirrhosis with onset in adolescence.
    • Highlights the progressive nature of jaundice and portal hypertension in affected siblings.

    Observation:

    • No abnormalities were noted in facial features, cardiovascular, or vertebral systems.
    • Liver biopsies revealed diminished interlobular bile ducts without significant cholangitis.
    • Autopsies showed biliary cirrhosis, accessory right hepatic lobes, and papillary epithelial hyperplasia in septal bile ducts.

    Findings:

    • Excessive copper accumulation in the liver was confirmed in both patients.
    • Histological examination indicated a decrease in small interlobular bile ducts.
    • The condition is suggested to be intrahepatic cholestatic cirrhosis resulting from hypoplasia of intrahepatic biliary trees.

    Implications:

    • Suggests a genetic or developmental basis for intrahepatic cholestatic cirrhosis.
    • Highlights the importance of early diagnosis and management of pediatric liver diseases.
    • Contributes to understanding rare biliary diseases and copper metabolism disorders.

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