Basic Info
Symptoms
Symptoms vary depending on the type of disease, but may include:Bone pain and fracturesCognitive impairmentEasy bruis...
Causes
Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Easter...
Tests
The doctor will perform a physical exam. The patient may have signs of liver and spleen swelling, bone changes, lung ...
Treatments
Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.
Prevention
Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can...
Basic Info