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CME: Gaucher disease: Though Very Rare, Why You Should Care - Updates and emerging medical management strategies in Gaucher disease


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.

Commercial Support Disclosure: This program is supported by an educational grant from Takeda.

This activity is free of charge.

Release Date: April 06, 2022 -- Expiration Date: April 06, 2024

Faculty: Neal J. Weinreb, MD, FACP


Faculty introduction, disclosures

Primer and updates on GD’s epidemiology, pathophysiology, presentation, complications, and diagnosis

·       Epidemiology, pathophysiology, risk factors

·       Complications: Hematologic, bone

·       Classification and clinical features of the disease by subtype

·       Diagnosis and risk of misdiagnosis

Treatment and barriers to care

·       Therapeutic goals based on organ systems affected

·       ERT: Indications, modifications during therapy (dose changes or interruptions), efficacy based on the evidence in neuronopathic and non- neuronopathic disease, practical considerations

·       SRT: Place in therapy, efficacy and clinical trial evidence, practical considerations

·       Investigational glucosylceramide synthase inhibitors

·       Patient case(s)

Summary, conclusions, and best practice recap

Learning Objectives

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

  • Describe the risks and consequences of mis- and underdiagnosis of GD
  • Recall strategies to improve recognition and diagnosis of GD
  • Discuss present and emerging approaches to the management of GD
  • Formulate a care plan in the treatment of a patient with GD


ACCME Activity #202280751


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 by ScientiaCME.

Faculty Disclosure: Neal 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/Scientific Advisory Board Member and/or Consultant for Genzyme-Sanofi, Takeda, Shire, Aurobio, Aeglea, and Pfizer for which he has received financial compensation. 

Disclosures of Educational Planners: Charles Turck, PharmD, BCPS, BCCCP, President of ScientiaCME, has no relevant financial disclosures.

Faculty will not discuss off-label use of a commercial product.

All relevant financial relationships have been mitigated.

ScientiaCME adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CE activity, including faculty, planners, reviewers or others are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity.

Commercial Support Disclosure: This program is supported by an educational grant from Takeda.


  • Read the learning objectives above
  • Take the Pre-Test (optional). Completion of the pre-test will help us evaluate the knowledge 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/Linguistic Competence & Health Disparities

System Requirements

Windows 7 or above
Internet Explorer 8
*Adobe Acrobat Reader
Mac OS 10.2.8
Safari or Chrome or Firefox
*Adobe Acrobat Reader
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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