What hematologist needs to know about Gaucher disease

Abstract

Hematological symptoms can be helpful for the diagnosis of inherited metabolic disorders, including Gaucher disease. Gaucher disease is a progressive, multisystem lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme, glucocerebrosidase, arising from autosomal recessive mutations in the GBA1 gene (1q21). Because of constant presence of hematological symptoms in Gaucher disease, hematologists have always been at the forefront of specialists, who performed initial diagnostics of Gaucher disease. Gaucher cells, the lipid-laden storage macrophages, are the pathologic hallmark of Gaucher disease. The clinical presentation of Gaucher disease is highly variable, giving a complex phenotype of multiorgan disease. Classically, three clinical types of Gaucher disease are distinguished according to the absence (type 1) or presence (types 2 and 3) of neurological symptoms and the dynamics of developing clinical signs. Thrombocytopenia, anemia, hepatosplenomegaly and bone manifestations are the most typical signs of type 1, the most prevalent form of Gaucher disease. This paper presents the most important, from the point of view of a hematologist, issues related to symptomatology, diagnosis, and treatment of Gaucher disease.