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:
“Among all the modernized aspects of the most luxurious of industries, the model, a vestige of voluptuous barbarianism, is like some plunder-laden prey. She is the object of unbridled regard, a living bait, the passive realization of an ideal.... No other female occupation contains such potent impulses to moral disintegration as this one, applying as it does the outward signs of riches to a poor and beautiful girl.”
—Colette [Sidonie Gabrielle Colette] (1873–1954)
“For anyone addicted to reading commonplace books ... finding a good new one is much like enduring a familiar recurrence of malaria, with fever, fits of shaking, strange dreams. Unlike a truly paludismic ordeal, however, the symptoms felt while savoring a collection of one man’s pet quotations are voluptuously enjoyable ...”
—M.F.K. Fisher (1908–1992)