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ARTICLE |

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

Ernest Beutler, MD
[+] Author Affiliations

Reprint requests to Division of Medicine, City of Hope Medical Center, 1500 E Duarte Rd, Duarte, CA 91010 (Dr Beutler).


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

REFERENCES

Beutler E, Kuhl W:  Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leukocytes . Lancet 1:612-613, 1970;.
Lieberman J, Beutler E:  Elevation of serum angiotensin-converting enzyme in Gaucher's disease . N Engl J Med 294:1442-1444, 1976;.
Beutler E, Kuhl W, Matsumoto F, et al:  Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease . J Exp Med 143:975-980, 1976;.
Chang-Lo M, Yam LT:  Gaucher's disease: Review of the literature and report of twelve new cases . Am J Med Sci 254:303-315, 1967;.
McKelvie IJ, Edwards LR:  Gaucher's disease: Report of a case . Med J Aust 2:297-299, 1969;.
Brinn L, Glabman S:  Gaucher's disease without splenomegaly: Oldest patient on record with review . NY State J Med 62:2346-2354, 1962;.

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Beutler E, Kuhl W:  Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leukocytes . Lancet 1:612-613, 1970;.
Lieberman J, Beutler E:  Elevation of serum angiotensin-converting enzyme in Gaucher's disease . N Engl J Med 294:1442-1444, 1976;.
Beutler E, Kuhl W, Matsumoto F, et al:  Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease . J Exp Med 143:975-980, 1976;.
Chang-Lo M, Yam LT:  Gaucher's disease: Review of the literature and report of twelve new cases . Am J Med Sci 254:303-315, 1967;.
McKelvie IJ, Edwards LR:  Gaucher's disease: Report of a case . Med J Aust 2:297-299, 1969;.
Brinn L, Glabman S:  Gaucher's disease without splenomegaly: Oldest patient on record with review . NY State J Med 62:2346-2354, 1962;.
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