Pregnancy in an adult with Maroteaux–Lamy syndrome: A case report

Abstract

CO RR EC TE D P RO OF Fabry disease (FD) is a disorder of glycosphingolipid metabolism resulting from α-galactosidase A deficiency and accumulation of globotriaosylceramide. Although enzyme replacement therapy (ERT) has been available for over a decade, little data has been presented regarding its long-term effects. This study aims to analyse clinical outcomes in a group of FD patients on long-term ERT. A review of clinical and pathological data of 15 male patients who participated in a Phase II Clinical Trial of agalsidase alfa and have subsequently received ERT for up to 15 years. Renal, cardiac and neurological adverse events and overall mortality were analysed and the ability of the Fabry International Prognostic Index (FIPI) and Mainz Severity Score Index (MSSI) to predict these events was examined. Individual cardiac and renal functionmeasurements were also collected. A cardiac event occurred in 7/15 patients, of which 2 had a myocardial infarction and 2 required a pacemaker. 4/15 patients reached end-stage renal failure, and 4/15 patients suffered a stroke. 3/15 patients died since the original trial. More events occurred in the group with the highest baseline FIPI. 11/15 patients experienced a serious Fabry-related adverse clinical event during 15 years ERT. Further understanding of which patients will benefit most from ERT is required.