Education
To earn ACCME or ACPE credit, go online to scientiacme.org/cmecoursecontent.php?ID=270 to view the slides and complete the post-test. Fabry disease is characterized by a deficiency of the glycoside hydrolase enzyme alpha galactosidase A, resulting in the accumulation of the glycolipid globotriaosylceramide throughout the body, particularly prominently in the blood vessels. A defect in the enzyme alpha galactosidase A results in glycosphingolipid accumulation, ultimately leading to multi-organ dysfunction and the patient’s premature death. Early symptoms, which occur during childhood, involve pain and may include Raynaud phenomenon, paresthesias, and arthralgia in the extremities and proximal limbs, as well as impaired gastrointestinal emptying, resulting in abdominal pain, diarrhea, early satiety, postprandial bloating, nausea, and vomiting. In adulthood, the disease’s impact spreads beyond and begins to affect the cardiac and renal systems. This program is supported by an educational grant from Sanofi / Genzyme. Faculty Disclosure: Neal J Weinreb, MD, FACP serves on Medical or Scientific Advisory Boards for Genzyme-Sanofi, Shire HGT and Pfizer for which he has received honoraria. He has consulted for Genzyme-Sanofi and for Pfizer and has received research support from Genzyme-Sanofi and from Shire HGT.