What are the symptoms of Gaucher Disease?
Gaucher disease is caused by decreased activity of an enzyme called acid β-glucosidase. This enzyme is supposed to break down fats that the body has made. When these fats cannot be broken down, they are stored in the lysosomes of cells called macrophages. Disease symptoms and signs are caused by this storage and chemicals that are released from the stored cells. Organs that have lots of macrophages are most affected, such as the spleen, liver, and bone marrow. Other affected organs include the lymphatic system, lungs, skin, eyes, kidneys, heart, and nervous system. The most common signs and symptoms of Gaucher disease type 1 are hepatosplenomegaly, anemia, thrombocytopenia and skeletal manifestations, such as bone pain, Erlenmeyer flask deformity and avascular necrosis.
