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CME: Treatment strategies in Gaucher disease

Activity Description / Statement of Need:

In this online CME 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 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.




  • Faculty introduction, disclosures
  • Learning Objectives
  • Gaucher disease (GD): An Introduction
  • GD classifications
  • GD pathophysiology
  • GD type 1
  • Clinical Manifestations: hematologic, oncologic, osteopathic
  • Gaucher disease as a diagnostic challenge: case reports
  • GD diagnosis
  • GD type 1 value-based therapeutic goals
  • GD type 1 treatment options
  • Historical perspective: pre-1991 vs. post
  • Enzyme Targets of enzyme replacement therapy (ERT) vs substrate reduction therapy (SRT)
  • Summary of ERT
  • ERT in GD Type 1
  • Efficacy: effect on splenomegaly, thrombocytopenia, DXA Z-scores
  • Choice of ERT
  • ERT safety considerations
  • Limitations of ERT
  • SRT review
  • SRT clinical trial evidence
  • SRT safety considerations
  • GD future considerations
  • Summary

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.

This activity is supported by an educational grant from Shire

Release Date: February 12, 2017 -- Expiration Date: February 12, 2019

Faculty: Neal J. Weinreb, MD, FACP


Learning Objectives

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

  • Describe the importance of appropriate GD diagnosis and treatment
  • Determine the likelihood of GD using with established diagnosis methods, given a patient case
  • Describe present therapies for the treatment of GD and the literature supporting their use
  • Design a medical plan to treat a patient with GD, taking into account presently available therapies



Faculty Disclosure and Resolution of COI

 As a provider of continuing medical education, it is the policy of ScientiaCME to ensure balance, independence, objectivity, and scientific rigor in all of its educational activities. In accordance with this policy, faculty and educational planners must disclose any significant relationships with commercial interests whose products or devices may be mentioned in faculty presentations, and any relationships with the commercial supporter of the activity. The intent of this disclosure is to provide the intended audience with information on which they can make their own judgments. Additionally, in the event a conflict of interest (COI) does exist, it is the policy of ScientiaCME to ensure that the COI is resolved in order to ensure the integrity of the CME activity. For this CME activity, any COI has been resolved thru content review ScientiaCME.


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, LLC has no relevant conflicts of interest to disclose.


Commercial Support Disclosure: This activity is supported by an educational grant from Shire


  • Read the learning objectives above
  • Take the Pre-Test (optional). Completion of the pre-test will help us evaluate the knowedge gained by participating in this CME activity.
  • View the online activity. You may view this is in more than one session, and may pause or repeat any portion of the presentation if you need to.
  • Minimum participation threshold: Take the post-test. A score of 70% or higher is required to pass and proceed to the activity evaluation.
  • Complete the activity evaluation and CME registration. A CE certificate will be emailed to you immediately.

Cultural and Linguistic Competence

System Requirements

Windows 7 or above
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*Adobe Acrobat Reader
Mac OS 10.2.8
Safari or Chrome or Firefox
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Internet Explorer is not supported on the Macintosh

*Required to view Printable PDF Version

Perform Pre-Test (optional)

Please take a few minutes to participate in the optional pre-test. It will help us measure the knowledge gained by participating in this activity.

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Treatment strategies in Hunter Syndrome

Gaucher disease: Updates from recent research findings