A young adult patient with abdominal pain was found to have hepatomegaly and splenomegaly associated with thrombocytopenia and anemia. The bone marrow was then punctured and biopsied, followed by determination of leukocyte glucocerebrosidase enzyme activity. Molecular genetic testing finally confirmed the suspected diagnosis. In the general population, the prevalence of Gaucher disease is approximately 1:100,000.
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- HAUSARZT PRAXIS