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