Gaucher's disease

Gaucher's disease is the most common of the lysosomal storage disorders. It is carried on chromosome 1 and is inherited in an autosomal recessive pattern. 

Ashkenazi Jews are most affected. 

Features of Gaucher’s disease include: 

• Splenomegaly 
• Hepatomegaly 
• Hepatic fibrosis 
• Pathological fractures 
• Pancytopenia 
• Seizures 

Treatment 

• Enzyme replacement therapy 
• splenectomy 

References:

Bohra, V. and Nair, V. Gaucher’s disease. Indian J Endocrinol Metab. 2011; 15(3): 182-186.

OMIM: Gaucher disease type I. Available at http://omim.org/entry/230800?search=gaucher&highlight=gaucher 

OMIM: Gaucher disease type II. Available at http://omim.org/entry/230900?search=gaucher&highlight=gaucher 

OMIM: Gaucher disease type III. Available at http://omim.org/entry/231000?search=gaucher&highlight=gaucher

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