Gaucher Disease

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Gaucher’s disease is a genetic condition that results in the buildup of fatty substances in certain organs, particularly the spleen and liver, and subsequently causes them to enlarge and can affect function. This buildup, usually broken down by an enzyme that does not function properly, can also occur in bone tissue, which can weaken the bone and increase the risk of fracture. Symptoms include fatigue, anemia, bone pain and easy bruising and bleeding. Treatment commonly includes enzyme replacement therapy.  

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