Improvement of splenomegaly and pancytopenia by enzyme replacement therapyagainst type 1 Gaucher disease: A report of sibling cases

Gaucher disease is a genetic lipid storage disease and represents a potenti ally serious health problem. It arises from a deficiency of glucocerebrosid ase activity with secondary accumulation of large quantities of glucocerebr oside. Symptoms are usually multisystemic, often debilitating or disabling, and sometimes disfiguring, and they can lead to death. We report objective clinical responses to repeated infusion of human placental and recombinant glucocerebrosidase in 2 patients with type 1 Gaucher disease and increased hemoglobin levels and platelet counts. Splenic volume decreased during the period of enzyme administration. Enzyme replacement therapy has improved t he treatment of type 1 Gaucher disease by safely and effectively arresting, decreasing, or normalizing many of its major signs and symptoms. Considera tion by physicians must be given to Gaucher disease, and appropriate treatm ents must be given when confronted with cryptogenic pancytopenia or hepatos plenomegaly. (C) 2001 The Japanese Society of Hematology.