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Orthotopic Liver Transplantation in Two Adults with Niemann-Pick and Gaucher's Diseases: Implications for the Treatment of Inherited Metabolic Disease

Authors

  • Elizabeth J. Smanik M.D., Ph.D.,

    Corresponding author
    1. Department of Medicine, MetroHealth Medical Center, Cleveland, Ohio 44109
    • Gastroenterology Division, MetroHealth Medical Center, 2500 MetroHealth Drive, Room W603, Cleveland, OH 44109–1998
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  • Anthony S. Tavill,

    1. Department of Medicine, MetroHealth Medical Center, Cleveland, Ohio 44109
    Current affiliation:
    1. Friedman Center for Digestive & Liver Disorders, Mt. Sinai Medical Center, One Mt. Sinai Drive, Cleveland, Ohio 44106
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  • Gretta H. Jacobs,

    1. Pathology Department, University Hospitals, Case Western Reserve University, Cleveland, Ohio 44106
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  • Irwin A. Schafer,

    1. Department of Pediatrics, MetroHealth Medical Center, Cleveland, Ohio 44109
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  • Lou Farquhar,

    1. Transplantation Service, University Hospitals, Case Western Reserve University, Cleveland, Ohio 44106
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  • Fredrick L. Weber Jr,

    1. Transplantation Service, University Hospitals, Case Western Reserve University, Cleveland, Ohio 44106
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  • James T. Mayes,

    1. Transplantation Service, University Hospitals, Case Western Reserve University, Cleveland, Ohio 44106
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  • James A. Schulak,

    1. Transplantation Service, University Hospitals, Case Western Reserve University, Cleveland, Ohio 44106
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  • Mary Petrelli,

    1. Department of Pathology, MetroHealth Medical Center, Cleveland, Ohio 44109
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  • Gregory C. Zirzow,

    1. Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892
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  • Katharine L. Oliver,

    1. Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892
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  • STEPHEN P. F. Miller,

    1. Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892
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  • Roscoe O. Brady

    1. Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892
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Abstract

Two adults were seen with cirrhosis caused by different lipid storage diseases. A 42-yr-old woman with Niemann-Pick disease type B had marked hepatomegaly, ascites and recent variceal bleeding. Her evaluation showed chronic bilateral pulmonary infiltrates, multiple stigmata of chronic liver disease including the recent cessation of menses, diuretic-resistant sterile ascites, hepatic encephalopathy and variceal bleeding. Five percent of normal sphingomyelinase activity was measured in peripheral leukocytes. A 42-yr-old man with Gaucher's disease and a history of bilateral hip replacements presented with hepatomegaly, jaundice, refractory ascites and renal insufficiency. His evaluation showed 20% to 23% of normal glucocerebrosidase activity in peripheral leukocytes. Both patients underwent orthotopic liver transplantation with resolution of all aspects of decompensated liver function. Assessment of the underlying metabolic defect before and 6 to 14 mo after transplantation showed that after transplantation the patient with Niemann-Pick disease had above normal hepatic sphingomyelinase activity, a less-marked increase in peripheral leukocyte enzyme activity and lower than normal hepatic sphingomyelin and cholesterol content. In contrast, the patient with Gaucher's disease had only a 61% increase in hepatic glucocerebrosidase activity but had an elevated hepatic glucocerebroside content that was only 15% of the pretransplant level and decreased peripheral leukocyte enzyme levels. These findings suggest that variable relationships may exist between posttransplant hepatic and peripheral leukocyte enzyme activities in the different lipidoses, which may have implications for recurrence of glycolipid-induced liver damage. (HEPATOLOGY 1993;17:42–49.)

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