Rare but important haematological conditions: Gaucher disease

Gaucher disease is a rare autosomal recessive disorder of sphingolipid metabolism. Deficiency of β-glucocerebrosidase results in the accumulation of glucosylceramide in cells of the reticuloendothelial system, with consequent organomegaly and bone marrow failure. Recent research has suggested that defects exist beyond the macrophage, for example in immune and mesenchymal-derived cells. Patients often present to haematologists and, despite the availability of an enzyme assay, diagnosis is often made incidentally on bone marrow biopsy. Specific therapy is available by enzyme replacement or substrate reduction, resulting in an improvement of haematological parameters and bone disease. Patients with Gaucher disease suffer a higher incidence of haematological malignancy, and although understanding is incomplete, recent research suggests a role of antigenicity of lysolipids both in Gaucher and non-Gaucher-related myeloma.