Gaucher's disease history and symptoms

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

Overview

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.