Advances in the management of Fabry disease
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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.
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.
By the end of the session the participant will be able to:
- Describe the pathophysiology of Fabry disease diagnosis and treatment.
- Describe the challenges associated with diagnosis of Fabry disease.
- List present and emerging treatment options for Fabry disease and apply them to patient cases using evidence-based medicine.
- Describe the benefits and any applicable risks of therapeutic approaches to Fabry disease and take them into account when formulating a treatment plan for patients.