Gaucher - Signs and Symptoms

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