Introduction

Epidemiology 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

Treatment 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

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.

ACCREDITATION FOR THIS COURSE HAS EXPIRED. YOU MAY VIEW THE PROGRAM, BUT CME / CE IS NO LONGER AVAILABLE AND NO CERTIFICATE WILL BE ISSUED.

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 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

*Required to view Printable PDF Version