This page introduce 3 representitive symptoms of the disease.
Please note that there are many other symptoms and they are different to the types of Gaucher disease. According to types, some patients may have severe symptoms at early ages, while other patients may not have any symptoms or mild ones and be diagnosed in later lives.
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Bone deformity
75% of patients of Gaucher disease 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, osteochondrodysplasia).
Severe pain associated with joints and bones occurs, frequently presenting in hips and knees. Osteoporosis also may occur. .. |
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(Gaucher disease. Retireved from www.wikipedia.com)