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CME: Treatment strategies in Fabry disease


Activity Description / Statement of Need:

In this online, self-learning activity:

Fabry disease is characterized by a deficiency of the glycoside hydrolase enzyme alpha galactosidase A, resulting in the accumulation of the glycolipid globotriaosylceramide throughout the body, particularly prominently in the blood vessels. A defect in the enzyme alpha galactosidase A results in glycosphingolipid accumulation, ultimately leading to multi-organ dysfunction and the patient’s premature death. Early symptoms, which occur during childhood, involve pain and may include Raynaud phenomenon, paresthesias, and arthralgia in the extremities and proximal limbs, as well as impaired gastrointestinal emptying, resulting in abdominal pain, diarrhea, early satiety, postprandial bloating, nausea, and vomiting. In adulthood, the disease’s impact spreads beyond and begins to affect the cardiac and renal systems.

Podcast available at: Apple Podcasts or wherever you get your podcasts. 

Target Audience:

The following healthcare professionals: cardiologists, nephrologists, pediatricians, 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 Fabry disease.

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

Learners may participate in this activity free of charge.

Release Date: September 04, 2019 -- Expiration Date: September 04, 2021

Faculty: William Wilcox, MD




  • Current statistics
  • Risk and causes

Future complications Pathophysiology and diagnosis

  • Clinical features
    • Arthralgia, kidney involvement, cardiac complications, dermatological manifestations
  • X-linked recessive gene disease pathology
  • Diagnostic methods
    • Clinical presentation, enzyme assay, GLA gene analysis, kidney biopsy


  • Present and emerging therapy and their benefits on long-term outcomes
  • Enzyme replacement therapy
  • Emerging therapies
    • Substrate reduction therapy
    • Oral pharmacological chaperone
  • Supportive care, including pain management
  • 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 importance of quick and accurate Fabry disease diagnosis and treatment.
  • Using established methods, determine likelihood of Fabry disease given a patient case.
  • Appropriately describe available therapies used for treatment of Fabry disease and explain current literature supporting use of those therapies.
  • Design and implement an appropriate therapeutic plan for treatment of Fabry disease.
  • Describe future therapies currently being investigated for the treatment of Fabry disease.



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: William Wilcox, MD, PhD, Department of Human Genetics and Pediatrics, Emory University, has received financial support as a consultant and/or for clinical study grant from Amicus, Alexion, Arexis, Protalix, Shire, Genzyme / Sanofi, and Biomarin

Disclosures of Educational Planners: Charles Turck, PharmD, BCPS, BCCCP, President of ScientiaCME, has no relevant conflicts of interest to disclose.


  • 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.

Additional Courses That Are Related To This Activity

Advances in the management of Fabry disease

Lysosomal Storage Disorders: Updates from recent research findings

Treatment strategies in Hunter Syndrome

Fabry disease: Updates from recent research findings