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Gaucher disease

Gaucher disease is an autosomal recessive lysosomal storage disease caused by a deficiency or decreased activity of acid β-glucosidase (GBA-1) that results in the accumulation of its substrate glucocerebroside (GL-1). The accumulation of GL-1 in the lysosomes of macrophages leads to progressive hepatosplenomegaly, hematological abnormalities such as anemia and thrombocytopenia, bone disease and other manifestations
Gaucher disease is a pan-ethnic disease with an overall incidence of 1/40 000 -1/60 000 but can reach up to 1/450 in Ashkenazi Jewish populations.1-3

Increased bleeding tendency, tiredness, splenomegalie and enlarged liver. These are common symptoms of Gaucher disease. Watch the video below to learn more about the symptoms of Gaucher disease, and the mechanism of this rare lysosomal storage disease, which can result in progressive multi-organ dysfunction.1

Symptoms5

    Hepatosplenomegaly 
    Bone pain, bone crisis 
    Anemia, thrombocytopenia 
    Fatigue 
    Erlenmeyer flask deformity 
    Osteopenia, pathological fractures 
    Bone marrow infiltration by Gaucher cells 
    Avascular necrosis 
    Growth retardation, delayed puberty