Updates and emerging medical management strategies in Gaucher disease

Cost: Free

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Activity Description / Statement of Need:

In this online, self-learning activity:

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 has an estimated prevalence of 0.70 to 1.75 per 100 000 in the general population, it affects individuals of Ashkenazi Jewish heritage in significantly higher numbers. 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.

This learning activity has been designed to bring healthcare professionals’ knowledge of the strategies for treatment and management of GD up to date and to improve their competence and performance in treating it.

Target Audience:

The following healthcare professionals: Pediatricians, neurologists, endocrinologists, and primary care physicians; physician assistants and nurse practitioners in those areas of specialty; pharmacists who practice in specialty pharmacies that treat patients with rare diseases; and any other healthcare professionals with an interest in or who may clinically encounter patients with GD.

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