Friday, 19 November 2010

MRCP revision battle 54.7: Gaucher's disease

Gaucher's disease is the most common of the lysosomal storage disorders.

It is a recessive inherited disorder on chromosome 1 in which lipid accumulates in organs (spleen, liver, brain, kidneys, lungs) and bone marrow due to lack of an enzyme.

Ashkenazi Jews are more affected.

Possible features include:
  • splenomegaly
  • hepatomegaly
  • yellow-brown skin pigmentation
  • seizures
  • low IQ
  • osteoporosis

Treatment can include splenectomy and replacement of the missing enzyme.