CME: Gaucher disease: Updates from recent research findings

Cost: Free

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Details

Gaucher disease (GD) is characterized by a deficiency of the lysosomal enzyme glucocerebrosidase, resulting in the accumulation of sphingolipids throughout the body but most manifesting prominently in the bones. GD is subcategorized based on clinical features: type 1 GD is the non-neuronopathic form and affects mainly the inner organs, while types 2 and 3 are the acute and sub-acute neuropathic forms, whose pathology manifests predominantly within central nervous system. GD impacts about 1 in 75,000 births, making it one of the most common lysosomal storage diseases. One of the first of GD’s complications is the chronic anemia and a persistent bleeding risk. Another is the hepatosplenomegaly, which may be a part of the initial clinical presentation, as may the anatomical abnormalities of bone deformities and stunted growth.

By the end of the session the participant will be able to:

  • Describe the pathogenesis, clinical presentations, complications, and epidemiology of Gaucher disease including updated recently presented material
  • Describe principles and problems regarding screening for and diagnosing Gaucher disease that can applied to patient cases
  • Describe emerging therapies for Gaucher disease based on research recently presented
  • Design and implement appropriate therapeutic plans for treatment of Gaucher disease based on research recently presented

Target Audience:

The following healthcare professionals: pediatricians, neurologists, endocrinologists, and primary care physicians; physician assistants, nurse practitioners, nurses, and pharmacists; and any other healthcare professionals with an interest in or who may clinically encounter patients with Gaucher disease.

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