80048745 - Recent Advances in Anderson-Fabry Disease: Translating the Latest Science into Best Practice (Live Course)

Tuesday, August 27, 2019, 11:00 AM - 12:00 PM, Chevy Chase Bank Conference Center, JHH, Baltimore, MD


This dynamic initiative will combine evidence- and case-based discussions to promote translation of educational concepts to practice, amplify retention of learning, and provide real-world tools to improve patient care. The initiative will include: * Series of five (5), 1-hour, Live Hospital Rounds Presentations, to be held at Academic Centers with Genetic Medicine Programs from August 2019 through March 2020. * Interactive, On-Demand, Archive of the Live Hospital Rounds Presentation, to endure online for 1 year

1. Review the diagnostic criteria, symptom burden and NCCN risk stratification guidelines in polycythemia vera (PV).
2. Assess the efficacy and safety of approved and recommended first- and second-line treatments for patients with PV.
3. Develop patient-specific FD management plans for pediatric and adult populations that consider published recommendations, individual clinical factors, patient goals, and novel FD therapies.
4. DESCRIBE recently identified genotype-phenotype correlations in FD, and how different mutations may affect disease progression, severity, and/or response to treatment.

Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism, which leads to the gradual accumulation of the enzyme's principle substrate, globotriaosylceramide; this results in the progressive damage of renal epithelial cells, cardiac myocytes, vascular endothelium, and neurons of the dorsal root ganglia and autonomic nervous system. Diagnosing patients with FD is challenged by variable clinical presentation, lack of pathognomonic features, and considerable symptom overlap with more prevalent conditions. With advances in molecular biology, there is now a better understanding of FD, including its prevalence, mechanisms of inheritance, genotype-phenotype relationships, and the impact of the disease in female carriers. These discoveries, along with the advent of efficacious, disease-specific therapies—specifically, enzyme replacement therapy and the small molecule chaperone therapy, migalastat—offer the
potential to significantly improve the identification and care of patients living with FD. However, complex genetic causes and heterogeneous clinical presentation of patients with FD continue to preclude early diagnosis and interventions that could greatly improve the health and quality-of-life of patients. This in-office live activity will examine advances in our understanding of FD pathophysiology and genetics, including unique considerations in heterozygous female patients. It will also review treatment options for patients with FD and discuss strategies for developing patient-specific management plans.