Therapy of adult Gaucher disease

aucher disease, the most common lysosomal storage disease, is caused by an autosomal-recessively inherited deficiency of glucocerebrosidase.The inability to cleave glucosylceramide into glucose and ceramide leads to a slow transformation of macrophages into storage cells, evident as Gaucher cells in bone marrow aspirates.Long-term accumulation of Gaucher cells in liver, spleen and bone marrow and other parenchymal organs leads to hepatosplenomegaly, anemia, low platelet counts and devastating bone disease.The standard therapy for adult visceral Gaucher disease is enzyme replacement therapy (ERT).After being introduced in 1991, currently more than 4500 patients world-wide are receiving macrophage-targeted glucocerebrosidase for treatment.The focus of this article is a summary of established, probable and anecdotal effects of therapy in type I Gaucher disease, the most frequent adult visceral form of the disease.Safety and failures of ERT and economic problems of this therapy are considered.Ways to provide reasonable management of ERT, as indicated in an article by de Fost et al. published in this issue of the journal, 1 are outlined.Other therapeutic approaches, such as substrate deprivation therapy are discussed and the most burning scientific issues in Gaucher disease are briefly indicated.The current article might help clinicians to be alert to atypical manifestations of the disease and help establish sound clinical use of the expensive and effective molecular-based therapy.