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Gaucher's Disease

Frank J. Frassica, MD
Chairman, Department of Orthopedic Surgery
Robert A. Robinson Professor of Orthopedic Surgery
The Johns Hopkins Hospital;
Professor of Oncology
Sidney Kimmel Comprehensive Cancer Center
Baltimore, Maryland

Introduction

Gaucher's disease is caused by an accumulation of glucocerebrosides (glucosylceramide) in macrophages. The specific enzyme deficiency is glucocerebrosidase (acid beta-glucosidase, lysosomal enzyme). The inheritance pattern is autosomal recessive.

Erlenmeyer flask deformities of the metaphyses cause bone remodeling complications.

The clinical manifestations are pancytopenia, thrombocytopenia, and specific bone conditions such as osteonecrosis, bone crises, and fractures. Patients often have easy bruising and fatigability.

Patients with Gaucher's disease are treated by replacement of the deficient enzyme.

Other defects from the set of disorders called mucopolysaccharidoses include:

Hurler syndrome - dermatan sulfate and heparin sulfate
Hunter syndrome - heparin and dermatan sulfate
Sanfilippo syndrome - heparin sulfate
Morquio syndrome - keratin sulfate
Maroteaux-Lamy syndrome - dermatan sulfate

Bibliography

McCarthy EF, Frassica FJ. Genetic diseases of bones and joints. In: Pathology of Bone and Joint Disorders. Philadelphia, Pa: Saunders; 1998:54-55.
Vigorita VJ. Osteonecrosis, Gaucher's disease. In: Vigorita VJ, ed. Orthopaedic Pathology. Philadelphia, Pa: Lippincott Williams and Wilkins; 1999:503-505.