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June 6, 1977

Gaucher's Disease in an Asymptomatic 72-Year-Old

JAMA. 1977;237(23):2529. doi:10.1001/jama.1977.03270500081038

IT IS a truism that as better diagnostic methods develop, the clinical spectrum of a disease broadens. So it is in the case of Gaucher's disease. Classically associated with massive hepatosplenomegaly, pancytopenias, and bone lesions, this disease can now be detected by a relatively simple biochemical measurement: the activity of leukocyte acid β-glucosidase is greatly decreased.1 Recently, in the course of a family study, we carried out assays of β-glucosidase activity in leukocytes of the elderly parents of a pregnant woman with Gaucher's disease. To our surprise, the results obtained for this woman's mother (the case reported here) were within the range characteristic of this disorder. The diagnosis was confirmed by bone marrow examination.

Report of a Case  The patient is a 72-year-old Jewish woman. Breast cancer, diagnosed at the age of 51 years, was treated with radical mastectomy; there has been no evidence of recurrence. A myocardial infarction