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Gaucher Disease
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Gaucher disease is frequently diagnosed in adulthood and may manifest at any age. Chronic neuronopathic forms are rarely seen but may come to the attention of the adult physician. Nonneuronopathic or type 1 disease is extremely variable. Main symptoms are cytopenia, hepatosplenomegaly and bone disease. The majority of patients diagnosed in adulthood present with thrombocytopenia and splenomegaly. In moderate to severe disease, treatment with intravenous enzyme replacement is highly effective. Substrate reduction therapy with miglustat or eliglustat is an oral alternative for some. Awareness of a number of severe complications and associated conditions, including irreversible bone disease, rare cancers and Parkinson's disease, is of importance.
Title: Gaucher Disease
Description:
Gaucher disease is frequently diagnosed in adulthood and may manifest at any age.
Chronic neuronopathic forms are rarely seen but may come to the attention of the adult physician.
Nonneuronopathic or type 1 disease is extremely variable.
Main symptoms are cytopenia, hepatosplenomegaly and bone disease.
The majority of patients diagnosed in adulthood present with thrombocytopenia and splenomegaly.
In moderate to severe disease, treatment with intravenous enzyme replacement is highly effective.
Substrate reduction therapy with miglustat or eliglustat is an oral alternative for some.
Awareness of a number of severe complications and associated conditions, including irreversible bone disease, rare cancers and Parkinson's disease, is of importance.
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