Gaucher disease type I diagnosed at 63 years old presenting with thrombocytopenia

Abstract

A 63-year-old man who was incidentally found to have thrombocytopenia at a periodic physical examination visited our hospital. The spleen was palpable 3 finger-breadths below the navel level, and the liver was palpable 1 finger-breadth below the right costal margin. Peripheral blood examination showed WBC 2,900/μl, Hb 13.4 g/dl, and platelets 54×10³/μl. Gaucher cells were recognized in the bone marrow by aspiration, and serum levels of total acid phosphatase and angiotensin converting enzyme were increased. Glucocerebrosidase activity was lower than the control level in bone marrow stroma cells, and modification of glucocerebrosidase genotype N188S was shown, which had been identified in the past. Furthermore, neurological examination was normal. Based on these results, we diagnosed the patient with Gaucher disease type I, and started enzyme replacement therapy.
Gaucher disease is rare in Japanese, approximately 100 cases having been reported; diagnosis at older age is also relatively rare and, as far as we know, the oldest age reported in Japanese was 57 years old. Gaucher disease should be considered a differential diagnosis when thrombocytopenia and splenomegaly are found in elderly patients, although it is relatively rare.