An outline of clinical manifestations, treatment and causes of diagnostic pitfalls in Gaucher disease

Abstract

Gaucher disease, a rare autosomal recessive disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase, can be difficult to diagnose in the absence of a known affected family member. This is particularly true in non-Jewish patients with mild phenotypes due to the incomplete awareness of signs and symptoms of Gaucher disease among physicians (e.g., internists). Here, we present an outline of clinical manifestations of Gaucher disease with a particular focus on hematologic symptoms. A historical outline of Gaucher disease and currently available treatment options for this disorder are briefly summarized. Last but not least, we present issues related to possible diagnostic pitfalls in non-neuropathic patients with an undiagnosed Gaucher disease.