Initiation of Enzyme Replacement Therapy for an Adult Patient with Asymptomatic Type 1 Gaucher's Disease

Naoki TANAKA, Hiroshi SAITO, Toshiro ITO, Kayoko MOMOSE, Fumihiro ISHIDA, Kazuhiko HORA, Kendo KIYOSAWA, Hiroyuki IDA
2001 Internal medicine (Tokyo. 1992)  
A 27-year-old womanwas admitted for further examination of thrombocytopenia. Symptomswere absent, but physical examination demonstrated hepatosplenomegaly without neurological abnormalities. Bone marrow examination revealed many Gaucher cells, and glucocerebrosidase activity from cultured skin fibroblasts was markedly reduced. A 1448C (L444P) mutation was detected on one allele of the glucocerebrosidase gene. Because magnetic resonance imaging (MRI) of the femora indicated severe infiltration
more » ... vere infiltration of Gauchercells into bone marrow,enzymereplacement therapy was initiated despite the absence of skeletal symptoms. Hematologic abnormalities, visceral and bone involvement have been improving. In cases of thrombocytopenia or hepatosplenomegaly, Gaucher's disease should be suspected. (Internal Medicine 40: 716-721, 2001)
doi:10.2169/internalmedicine.40.716 fatcat:lesuqrdnzrethpxuieo6u5yoye