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