Gaucher s Disease
Gaucher’s Disease is an inherited disorder that causes structural damage to the spleen, liver, lungs and bones, as well as a reduction in the production of certain enzymes. It is the most common lysosomal storage disorder in humans and is caused by a mutation in a gene. Symptoms may include an enlarged spleen and liver, easy bruising and bleeding, bone pain, tiredness and anaemia. Treatment options include enzyme replacement therapy and substrate reduction therapy. Early diagnosis and treatment are important for reducing symptoms and improving health outcomes for those with Gaucher’s Disease.
← Journal of Spleen And Liver Research