Community Practice Connections™: Cases and Conversations: Exploring the Implications of Variants of Unknown Significance (VUS) in Fabry Disease

Target Audience

This educational program is directed toward geneticists, genetic counselors, pediatricians, endocrinologists, primary care physicians, nurses, nurse practitioners, and physician assistants who treat patients with Fabry disease. Other health care professionals interested in the treatment of Fabry disease are also invited to participate.

Activity Overview

Fabry disease is a rare, X-linked lysosomal storage disease (LSD) resulting from pathogenic mutations in the α-galactosidase A gene (GLA). A wide variety of clinical manifestations and phenotypes with potentially life-threatening complications can develop, creating a considerable disease burden in this patient population.

This Community Practice Connections™ program provides an in-depth review of some of the key highlights from a symposium on Fabry disease held at the American College of Medical Genetics (ACMG) 2021 annual meeting. This unique and engaging multimedia activity is ideal for community-based clinicians, geneticists, genetic counselors, and other health care professionals. This program focuses on the practical aspects of managing patients with Fabry disease, including pathogenesis, diagnosis, genotypic and phenotypic spectrums, current and emerging therapies, and advances in patient care. This 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:

Describe the known pathophysiological mechanisms involved in Fabry disease, particularly the role of both typical and atypical genetic mutations in determining disease phenotype
Recognize the clinical features of both classic Fabry disease and nonclassic disease variants, including disease-related organ complications and other clinical implications
Select appropriate screening and diagnostic assessments for early disease recognition and incorporate evidence-based guidelines for monitoring and referral into clinical decision-making
Apply knowledge of data from research studies evaluating currently available treatments and considering their appropriateness for individual patients based on genotype, phenotype, family history, gender, and disease severity