Educating hematologists about Gaucher disease

Abstract

Gaucher Disease (GD) is a rare, non-malignant inherited lysosomal storage disorder with a strong hematological component. Although the disease is non-malignant, patients are at risk of developing future hematological malignancies. Hematologists are the largest specialty diagnosing the condition, but diagnosis is usually incidental, following investigation for unexplained splenomegaly, thrombocytopenia, or anemia. Hematologists must be alert to the possibility of GD when patients present with unexplained moderate-to-severe splenomegaly, thrombocytopenia, chronic anemia, and osteolytic bone disease. The major barriers to diagnosis are that the common presenting features of GD overlap with those of other common hematological conditions. As a result, GD education needs to be shifted from the spectrum of metabolic disorders into mainstream hematology, especially because fast and accurate diagnosis is important for both the individual patient and their wider family.

Keywords

Gaucher disease / lysosomal storage disorders / education / diagnosis / treatment

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