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
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