BURST Clinical Consultations: Addressing Long-term Cardiac and Renal Outcomes in Fabry Disease

Target Audience
This program is intended for cardiologists, nephrologists, gastroenterologists, geneticists, genetic counselors, and any other healthcare professionals involved in the management of Fabry disease.

Activity Overview
Fabry disease (FD) is a rare, X-linked, lysosomal storage disease (LSD) resulting from pathogenic mutations in the alpha-galactosidase A gene (GLA). When α-GAL A is absent or deficient, glycosphingolipids accumulate in the lysosomes of a variety of cells, particularly in the small blood vessels, kidneys, heart, and nervous system. Substrate accumulation may also activate proinflammatory mechanisms which contribute to phenotypic expression. The leading cause of death in patients with FD is a cardiovascular (CV) event; in fact, many patients have the ‘cardiac variant’ which manifests primarily as left ventricular hypertrophy (LVH) or hypertrophic cardiomyopathy (HCM). Kidney disease is another major complication of FD, particularly in male patients. End-stage renal disease (ESRD) has been found to be the strongest indicator of CV disease progression. In this program, two specialists in caring for patients with Fabry disease discuss the management of patients with this highly variable disorder, including the benefits and limitations of enzyme replacement therapy and the need for multidisciplinary care to optimize quality of life for these patients.

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

Develop a differential diagnosis for patients presenting with symptoms consistent with Fabry disease
Analyze the efficacy and safety of current and emerging therapies in patients with Fabry disease
Apply knowledge of risk factors associated with cardiac and kidney disease progression to the long-term, multidisciplinary management of Fabry disease