Gaucher disease (Types I, II, & III)



Gaucher disease is an inherited disorder that affects many of the body's organs and tissues.


Signs and Symptoms
Type I (Non- neuronopathic): Characteristics include enlarged liver and spleen, anemia, easy bruising caused by decreased platelets, lung disease and bone abnormalities. Types II & III (Neuronopathic): Both forms have similar symptoms to Type I but additionally affect the central nervous system. Additional conditions may include abnormal eye movements, seizures and brain damage. Perinatal Lethal: The most severe form that causes life - threatening complications including extensive swelling, skin abnormalities, and neurological complications. Cardiovascular: Causes hardening of heart valves, eye abnormalities, and bone diseases.

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