Hepatology 1993 Jan;17(1):42-9

Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher'
diseases: implications for the treatment of inherited metabolic disease.

Smanik EJ, Tavill AS, Jacobs GH, Schafer IA, Farquhar L, Weber FL Jr, Mayes JT,
Schulak JA, Petrelli M, Zirzow GC, et al

Department of Medicine, MetroHealth Medical Center, Cleveland, Ohio 44109.

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.