When should I consider referring a patient with suspected Gaucher disease to a specialist?

Consider referring a patient with suspected Gaucher disease to a specialist when clinical features suggestive of the disease are present, such as unexplained splenomegaly, hepatomegaly, cytopenias (e.g., anaemia, thrombocytopenia), bone pain or crises, or other systemic symptoms that cannot be explained by more common conditions. Referral should be to a specialist with expertise in metabolic or haematological disorders, such as a consultant haematologist or a metabolic specialist. This is because Gaucher disease is a rare lysosomal storage disorder requiring specialist diagnostic tests (enzyme assays, genetic testing) and management.

While the provided UK guidelines do not explicitly mention Gaucher disease referral criteria, the general principle is to refer patients with unexplained splenomegaly and systemic symptoms to specialists for further assessment, as these features overlap with those seen in Gaucher disease and other serious conditions like haematological malignancies.

Therefore, if a patient presents with unexplained splenomegaly, cytopenias, bone symptoms, or other systemic signs suggestive of Gaucher disease, consider urgent referral to a specialist for definitive diagnosis and management.