Signs and Symptoms
- Painless hepatomegaly and splenomegaly: the size of the spleen can be 1500-3000 ml, as opposed to the normal size of 50-200 ml. Splenomegaly may decrease the affected individual's capacity for eating by exerting pressure on the stomach. While painless, enlargement of spleen increases the risk of splenic rupture.
- Hypersplenism and pancytopenia: the rapid and premature destruction of blood cells, leading to anemia, neutropenia, leukopenia, and thrombocytopenia (with an increased risk of infection and bleeding).
- Cirrhosis of the liver is rare
- Severe pain associated with joints and bones, frequently presenting in hips and knees.
- Neurological symptoms occur only in some types of Gaucher's (see below):
- Type II: serious convulsions, hypertonia, mental retardation, apnea.
- Type III: muscle twitches known as myoclonus, convulsions, dementia, ocular muscle apraxia.
- Osteoporosis: 75% develop visible bony abnormalities due to the accumulated glucosylceramide. A deformity of the distal femur in the shape of an Erlenmeyer flask is commonly described (aseptic necrosis of the femur joint).
- Yellowish-brown skin pigmentation
Read more about this topic: Gaucher's Disease
Famous quotes containing the words signs and/or symptoms:
“The signs look better. The Father of Waters again goes unvexed to the sea. Thanks to the great North-West for it. Nor yet wholly to them.... The job was a great national one.”
—Abraham Lincoln (1809–1865)
“A certain kind of rich man afflicted with the symptoms of moral dandyism sooner or later comes to the conclusion that it isn’t enough merely to make money. He feels obliged to hold views, to espouse causes and elect Presidents, to explain to a trembling world how and why the world went wrong. The spectacle is nearly always comic.”
—Lewis H. Lapham (b. 1935)