Gaucher disease: hepatic abnormalities in 25 patients.
Twenty-five patients with enzymatically confirmed Gaucher disease were selected for study of hepatic complications of the disorder. Hepatomegaly was noted clinically and confirmed by radioisotopic scan in all but 1 patient. The majority had abnormalities of serum transaminase, alkaline phosphatase, and sulfobromophthalein (BSP) clearance. Three patients had evidence of portal hypertension. Light microscopic examination of liver showed some variation in the pattern of the disease. Gaucher cells were present in all specimens. In 5 patients the distribution was in scattered foci throughout the liver lobule. In 14 patients there was prominent centrilobular accumulation of Gaucher cells. Extensive replacement of liver by storage cells and cirrhosis was documented in 3 patients. No patient was found to have amyloid deposits. The severity of hepatic involvement correlated with the occurrence of other severe complications of the disorder. The wide range of liver abnormalities in Gaucher disease should be considered in evaluating patients for participation in experimental therapeutic trials.
D000293:Adolescent; D000328:Adult; D002648:Child; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D008875:Middle Aged