Enzyme replacement therapy for Fabry disease:Consensus Report

Fabry disease is a rare X-linked lyzosomal storage disease characterized by accumulation of glycosphyngolipids in various organs, including the kidneys, heart, brain, peripheral nervous system, and significant impairment of quality of life. Over time, Fabry disease can lead to severe complications such as kidney failure, hypertrophic cardiomyopathy, and stroke. Enzyme replacement therapy (ERT) with recombinant a-galactosidase A has been the main treatment for Fabry patients since 2001. ERT slows down target organs disease progression and prevents unfavorable outcomes. In this paper we report recommendations on diagnosis, monitoring and treatment of patients with Fabry disease developed by a panel of expert healthcare professionals. Intensified surveillance, including lyso-Gb3 and creatinine levels every 6 months, is essential both for patients who receive and do not receive ERT. Criteria for ERT inefficacy (e.g. failure to reduce lysoGb3 levels, rapid decline in estimated glomerular filtration rate, increasing left ventricular mass, worsening heart failure symptoms, no improvement of neuropathic pain, etc) may indicate the need to switch ERT.