Authors
Meghan E. Kapp, MD
Morvarid Elahi, MD
Sara Akhavanfard, MD, PhD
Jessica Sigel, MD
University Hospitals Cleveland Medical Center
Case Western Reserve University
Cleveland, Ohio
Primary Audience: Pathologists and Clinical Scientists
Secondary Audience: Residents, Laboratory Technologist/Scientist (Includes all sub-specialty areas), Students, Pathologist Assistants, Laboratory Directors and Educators
Upon completion of this activity, you will be able to:
· describe the pathophysiology of Fabry disease, including the role of a-galactosidase A deficiency and globotriaosyceramide (GB3);
· identify key diagnostic approaches for Fabry disease, including enzymatic activity assays and genetic testing of the GLA gene;
· explain the natural history and pathologic findings of Fabry nephropathy, including early podocyte injury, proteinuria, and characteristic histologic/electron microscopic features (myeloid bodies);
· compare and evaluate therapeutic options for Fabry disease, including enyzme replacement therapy (ERT) and chaperone therapy (e.g. migalastat); and
apply case-based knowledge to identify Fabry disease in patients with unexplained chronic kidney disease or hypertrophic cardiomyopathy to avoid diagnostic delays.