Format

Send to:

Choose Destination
See comment in PubMed Commons below
Curr Opin Hematol. 2013 Jan;20(1):41-7. doi: 10.1097/MOH.0b013e32835a9148.

Haematological manifestations and complications of Gaucher disease.

Author information

  • 1Department of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital and University College Medical School, London, UK. rmgvdah@ucl.ac.uk

Abstract

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.

SUMMARY:

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.

PMID:
23108221
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Lippincott Williams & Wilkins
    Loading ...
    Write to the Help Desk