Haematological manifestations and complications of Gaucher disease

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Purpose of review

Gaucher disease is a rare inherited disorder of sphingolipid metabolism resulting in the accumulation of glucocerebroside substrate in cells throughout the reticuloendothelial system and clinical manifestations including cytopenias, organomegaly and bone disease. The clinical presentation is very variable and little has been understood of the determinants of heterogeneity or biological features that influence disease severity.

Recent findings

This review explores the haematological features of Gaucher disease in the context of new insights into the underlying cellular physiopathlogy. Careful examination of registry data has furthered understanding of individual risk factors for bone complications including fractures and osteonecrosis and for reduced or delayed response to enzyme replacement therapy. Analysis of substrates and their derivatives have added to possible biomarkers for assessment of disease burden and response to treatment and strikingly, in view of its rarity a genome-wide association study has identified a hitherto unsuspected gene as a potential modifier of severity.


Improved understanding of biological and clinical risk factors for severe manifestations of Gaucher disease will allow rational assessment of patients and suggests potential nonsubstrate directed adjuvant strategies to consider in the management of this condition.

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