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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.

By the end of the session the participant will be able to:

• Describe the importance of quick and accurate Fabry disease diagnosis and treatment.
• Using established methods, determine likelihood of Fabry disease given a patient case.
• Appropriately describe available therapies used for treatment of Fabry disease and explain current literature supporting use of those therapies.
• Design and implement an appropriate therapeutic plan for treatment of Fabry disease.
• Describe future therapies currently being investigated for the treatment of Fabry disease.

Target Audience: The following healthcare professionals: cardiologists, nephrologists, pediatricians, and primary care physicians; physician assistants, nurse practitioners, nurses, and pharmacists; and any other healthcare professionals with an interest in or who may clinically encounter patients with Fabry disease.