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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.
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.
This activity is supported by an educational grant from Sanofi Genzyme.
This activity is free of charge.
Release Date: April 28, 2019 -- Expiration Date: April 28, 2021
Faculty: Neal J. Weinreb, MD, FACP
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Faculty Disclosure: Neal J. Weinreb, MD, FACP, Voluntary Associate Professor of Human Genetics and Medicine (Hematology) University of Miami Miller School of Medicine, Miami, FL, discloses that he serves on Medical or Scientific Advisory Boards for Genzyme-Sanofi, Shire HGT and Pfizer for which he has received honoraria. He has consulted for Genzyme-Sanofi and for Pfizer and has received research support from Genzyme-Sanofi and from Shire HGT.
Disclosures of Educational Planners: Charles Turck, PharmD, BCPS, BCCCP, CEO of ScientiaCME has no relevant conflicts of interest to disclose.
Commercial Support Disclosure: This activity is supported by an educational grant from Sanofi Genzyme
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