Fabry disease A143T genotype-phenotype investigation

Abstract

In 2014, Illinois became one of the first states to initiate a pilot study for newborn screening for Fabry Disease. Since screening for Fabry disease was implemented statewide in June of 2015, the Division of Genetics, Birth Defects and Metabolism at Ann & Robert H. Lurie Children's Hospital of Chicago has evaluated many infants with abnormal newborn screens for Fabry disease. Cascade family testing has allowed us to follow the phenotype and clinical presentation of previously undiagnosed individuals with Fabry disease. Specifically, Ann & Robert H. Lurie Children's Hospital’s cohort of patients with the A143T variant that have been identified through newborn screening and cascade familial testing. As there are many conflicting reports in the literature as to the clinical significance of the A143T variant, there is little consensus to guide clinical interpretation and management of these individuals identified to have the A143T variant. With little evidence available to guide anticipatory guidance for newly diagnosed individuals and parents, a diagnosis of Fabry disease can be overwhelming and lead to increased anxiety. This poster will present the center’s data including enzyme levels, demographic, phenotypic and management data for patients with the A143T variant. This poster will also further emphasize the challenges of educating and counseling families on their prognosticated future of living with the A143T variant.