Gaucher

GAUCHER DISEASE is an inherited lysosomal storage disorder secondary to a defect in acid beta-glucosidase and subsequent glycoshpingolipid deposition in hematopoietic organs including the bone marrow, spleen and liver. The abnormal lipid deposition can be seen in blood macrophages [Gaucher cells] and causes displacement of healthy, normal cells in the spleen and. With organ enlargement and dysfunction. With deposition in the bone marrow there is faulty marrow production of normal blood elements leading to anemia and thrombocytopenia. Expansion of the bone marrow with these abnormal Gaucher cells and biochemical changes leads to skeletal deteriorization and risk of bone marrow infarction, avascular necrosis, fracture and pain. There may be growth retardation or short statue.

Clinical features are extremely variable in each patient and even within a family various members can exhibit a very

different clinical problems and course. Some individuals are mildly affected and have little or no health problems. For others, Gaucher disease can be a progressive condition. Close medical follow-up with periodic assessment is appropriate for those with Gaucher disease throughout their lifetime.

The quality of life for persons with Gaucher disease can be compromised by fatigue and pain and lead to inability to attend to work or school responsibilities. This chronic disease can have impact on social and family relationships.

This multi-system variable disease can present with a wide range of symptoms and may be not recognized and/or misdiagnosed. Frequent misdiagnoses include: leukemia, lymphoma, rheumatoid arthritis and osteoporosis.