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CME: Advances in the management of 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.

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: August 13, 2020 -- Expiration Date: August 13, 2022

Faculty: Virginia Kimonis, M.D., MRCP -- Daisy Tapia,


Introduction to Fabry disease

  • Epidemiology
  • Biochemical Pathway
  • GLA gene
  • Phenotype-genotype spectrum
  • Inheritance
  • Analysis of family history
  • Random X-inactivation
  • Progression & natural history
  • Fabry specific biomarkers
  • Diagnosis
  • Adult and pediatric organ involvement
  • Pediatric recommended assessments
  • Adult recommended assessments
  • Primary therapies
  • Enzyme replacement
  • Chaperone therapy
  • Therapies under investigation
  • Therapy initiation


Learning Objectives

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

  • Describe the pathophysiology of Fabry disease diagnosis and treatment.
  • Describe the challenges associated with diagnosis of Fabry disease.
  • List present and emerging treatment options for Fabry disease and apply them to patient cases using evidence-based medicine.
  • Describe the benefits and any applicable risks of therapeutic approaches to Fabry disease and take them into account when formulating a treatment plan for patients.


ACCME Activity #201861262


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:  

Dr. Virginia E. Kimonis, MD, MRCP, Professor, Department of Pediatrics, Division of Genetic & Genomic Medicine, University of California, Irvine, is an advisory board member and has participated as a Primary Investigator in a registry supported by Sanofi Genzyme.

Daisy Tapia, MS, LCGC, Genetic Counselor, Clinical Instructor, University of California, Irvine, has no relevant conflicts of interest to disclose.

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

Disclosures of Peer Reviewer:  Rob Hopkin, MD has received consulting income and research grants from Sanofi Genzyme, Amicus, Sangano, Avrobio, and Protalix

Disclosures of Peer Reviewer:  George Sarka, MD has received consulting / speaker honorarium from Allergan

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


  • 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

Treatment strategies in Fabry disease

Fabry disease: Updates from recent research findings

Gaucher disease: Updates from recent research findings

Lysosomal Storage Disorders: Updates from recent research findings