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
History and symptoms
- 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. An Erlenmeyer flask deformity of the distal femur is commonly described
- Yellowish-brown skin pigmentation
- No cardiac, renal and pulmonary signs