Community Practice Connection™ “Cases and Conversations: Patient-Minded Approaches to Managing Fabry Disease.”

Target Audience
This educational program is intended for geneticists, genetic counselors, pediatricians, endocrinologists, primary care physicians, nurses, nurse practitioners, physician assistants, and other healthcare professionals who are involved in the care of patients with Fabry disease.

Statement of Need/Program Overview
Fabry disease is a rare, X-linked lysosomal storage disorder that results in deficient or absent α-galactosidase and lysosomal accumulation of globotriaosylceramide and related glycosphingolipids across a wide variety of cells and tissues. Because of the importance of early recognition and accurate diagnosis of Fabry disease, there is an increasing need for healthcare providers across many specialties to be aware of and to proactively diagnose and manage this disease.

This Community Practice Connection™ program provides an in-depth review of some of the key highlights from a recent live webcast, Cases and Conversations: Patient-Minded Approaches to Managing Fabry Disease, held in April 2020. This unique and engaging multimedia activity is ideal for community-based clinicians and focuses on the practical aspects of the diagnosis and management of this disease. The program is designed for those who did not attend the live meeting and to help reinforce learnings for those who did.

Learning Objectives
Upon successful completion of this activity, you should be better prepared to:

Review the varied spectrum of phenotypic presentation and underlying genotypes in patients with Fabry disease
Discuss appropriate testing in the workup of patients with Fabry disease and confirmation of disease-causing GLA mutation
Evaluate the efficacy and safety of enzyme replacement therapy (ERT) and small-molecule chaperone therapies and the treatment selection for patients with specific Fabry disease genotypes
Apply clinical trial evidence and testing information to optimize the management of patients with Fabry disease