Symptoms and Signs of Gaucher’s disease
The signs and symptoms of type 1 Gaucher’s disease include:
- Skeletal abnormalities, including thinning of your bones (osteopenia), bone pain and bone fractures
- Enlarged liver (hepatomegaly) or (splenomegaly), or both
- A decrease in healthy red blood cells (anemia)
- Excessive fatigue
- A greater susceptibility to bruising, which may mean you have a low number of blood platelets (thrombocytopenia)
- Yellow spots in your eyes (pingueculae)
- Delayed puberty
- Nosebleeds
The clinical features of type 2 Gaucher’s disease include:
- Brain problems, including mental retardation or dementia
- Rigidity
- Seizures
The clinical features of type 2 Gaucher’s disease include:
- Brain problems, including mental retardation or dementia
- Abnormal eye movements
- Loss of muscle coordination
