Fabry Disease: When to Treat
E-Publication E-Publication

Fabry Disease: When to Treat


Maximum Credits:


E-Publication E-Publication


Maximum Credits:
E-Publication E-Publication


Maximum Credits:

Overview: This 45-minute, CME-certified digital publication discusses the variability of Fabry disease (FD) manifestations. In addition, it presents management approaches for patients with FD, including disease monitoring and comprehensive therapy.

CME Information:

William R. Wilcox, MD, PhD
Professor of Human Genetics and Pediatrics
Department of Human Genetics
Emory University School of Medicine
Atlanta, GA
Activity Planners
Iwona Misiuta, PhD, MHA
Clinical Content Manager
Baltimore, MD
Laura Rafferty
Managing Editor
Baltimore, MD
Amy Sison
Director of Continuing Medical Education
Baltimore, MD
Katherine Kahn
Northampton, MA
Learning Objectives
Upon completion, participants should be able to:

  • Describe the current understanding of the variable presentations of FD
  • Select appropriate patients with FD who may benefit from early intervention with ERT
Target Audience
This activity is intended for nephrologists and medical geneticists.
Series Overview/Statement of Need
Fabry disease (FD) is an inherited, X-linked lysosomal storage disorder caused by deficiency of the α-galactosidase A (GLA) enzyme. The GLA gene is located at Xq22, and more than 800 mutations in this gene have been identified. The reported prevalence of the classic form of FD—in which little or no GLA activity is present—is estimated to be 1 in 40,000 individuals. However, mutations that cause atypical presentations may be more common, affecting more than 1 in 1,000 males and 1 in 6,000 females.
As a result of abnormal levels of GLA activity, an accumulation of globotriaosylceramide (GL3 or GB3) and related glycolipids occurs in a variety of organs, leading to cellular dysfunction, tissue remodeling, fibrosis, ischemia, and, ultimately, severe end-organ damage. FD manifestations are variable and differ according to sex and age, making diagnoses a challenge.
It is important that nephrologists and medical geneticists be able to identify symptoms of FD. Clinicians need to be aware of the current understanding of the pathology of FD—particularly the associated end-organ damage—and weigh the risks and benefits of initiating treatment.

Accreditation/Designation Statements
Med-IQ is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. Med-IQ designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Medium/Method of Participation
This CME activity consists of a 0.75-credit online publication. To receive credit, read the introductory CME material, read the publication, and complete the post-survey, evaluation, attestation, and post-test, answering at least 70% of the post-test questions correctly.

Original Release Date: December 22, 2016
Expiration Date: December 21, 2017
Estimated Time to Complete This Activity: 45 minutes

Disclosure Policy
Med-IQ requires any person in a position to control the content of an educational activity to disclose all relevant financial relationships with any commercial interest. The ACCME defines “relevant financial relationships” as those in any amount occurring within the past 12 months, including those of a spouse/life partner, that could create a conflict of interest (COI). Individuals who refuse to disclose will not be permitted to contribute to this CME activity in any way. Med-IQ has policies in place that will identify and resolve COIs prior to this educational activity. Med-IQ also requires faculty to disclose discussions of investigational products or unlabeled/unapproved uses of drugs or devices regulated by the US Food and Drug Administration.
Disclosure Statement
The content of this activity has been peer reviewed and has been approved for compliance. The faculty and contributors have indicated the following financial relationships, which have been resolved through an established COI resolution process, and have stated that these reported relationships will not have any impact on their ability to give an unbiased presentation. 
William R. Wilcox, MD, PhD
Consulting fees/advisory boards: Sanofi Genzyme
Contracted research: Amgen, Amicus Therapeutics, ArmaGen, BioMarin, F. Hoffmann-La Roche Ltd., Protalix Biotherapeutics, Sanofi Genzyme, Shire
The writer, peer reviewers, and activity planners have no financial relationships to disclose.
Statement of Evidence-Based Content
Educational activities that assist physicians in carrying out their professional responsibilities more effectively and efficiently are consistent with the ACCME definition of continuing medical education (CME). As an ACCME-accredited provider of CME, it is the policy of Med-IQ to review and ensure that all the content and any recommendations, treatments, and manners of practicing medicine in CME activities are scientifically based, valid, and relevant to the practice of medicine. Med-IQ is responsible for validating the content of the CME activities it provides. Specifically, (1) all recommendations addressing the medical care of patients must be based on evidence that is scientifically sound and recognized as such within the profession; (2) all scientific research referred to, reported, or used in CME in support or justification of a patient care recommendation must conform to generally accepted standards of experimental design, data collection, and analysis.
Med-IQ is not liable for any decision made or action taken in reliance upon the information provided through this activity.

Contact Information
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Acknowledgment of Commercial Support
This activity is supported by an educational grant from Sanofi Genzyme.
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