Gaucher's disease history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

• Painless hepatomegaly and splenomegaly; the spleen can be 1500-3000 ml, as opposed to the normal size of 50-200 ml.
• Hypersplenism: increased destruction of red and white blood cells and platelets, leading to anemia, neutropenia and thrombocytopenia (with an increased risk of infection and bleeding)
• Cirrhosis of the liver is rare
• Neurological symptoms occur only in some types of Gaucher’s (see below):
  • Type II: serious convulsions, hypertonia, mental retardation, apnea.
  • Type III: myoclonus, convulsions, dementia, ocular muscle apraxia.
• Osteoporosis: 75% develop visible bony abnormalities due to the accumulated glucosylceramide.

• Bone pain and fractures
• Cognitive impairment
• Easy bruising
• Fatigue
• Heart valve problems
• Lung disease
• Severe swelling (edema) at birth
• Skin changes

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