Gaucher disease

Gaucher disease is a variable disease, caused by a particular enzyme deficiency. Children and adults with this condition may have anemia, enlarged liver and spleen, easy bruising, nosebleeds and fractures. The most common form of Gaucher disease, type 1, is treatable by enzyme replacement therapy. In the more severe form, which occurs much less frequently, the brain and nervous system are also involved; this form cannot be treated at this time. View testing options