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April 30, 1973

Section 45.—Gaucher's Disease

JAMA. 1973;224(Suppl_5):768. doi:10.1001/jama.1973.03220190108048

Gaucher's disease (P.C.E. Gaucher, 1882) is an heritable metabolic disorder resulting from the deficiency of a specific glucocerebroside-cleaving enzyme and is characterized by the accumulation of the glucocerebroside kerasin in cells of the reticuloendothelial system.1 Clinical manifestations, which are fairly variable, result from the infiltration and proliferation of Gaucher cells in the spleen, liver, lymph nodes, bone marrow, and many other internal organs. Symptoms may appear in early childhood or adolescence or may first be noted in adult life. Osteoarticular complaints resulting from infiltration of the marrow are a prominent feature and often the earliest manifestation of Gaucher's disease.2 The most common rheumatic symptom is pain in the extremities—particularly in the hip, knee, and shoulder. There may be pathologic fracture of a long bone or compression deformity of vertebrae giving rise to low back pain. In rare cases there is migratory polyarthritis, the nature of which is poorly