Rare but important haematological conditions: Gaucher disease

• Autores: Derralynn Hughes
• Localización: Medicine, ISSN-e 1357-3039, Vol. 41, Nº. 4, 2013, págs. 252-254
• Idioma: inglés
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• Resumen

  • Gaucher disease is a rare autosomal recessive disorder of sphingolipid metabolism. Deficiency of β-glucocerebrosidase results in 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 on bone marrow biopsy. Specific therapy is available by enzyme replacement or substrate reduction, resulting in improvement of haematological parameters and bone disease. Patients with Gaucher disease suffer a higher incidence of haematological malignancy but the pathology underlying this is not understood, nor is it known whether the risk is reduced by long-term Gaucher-specific therapy.