Pulmonary Manifestations and the Effectiveness of Enzyme replacement in Fabry Disease with the p.R227X Mutation

Introduction: Fabry disease is a rare X-linked multiorgan disease caused by a defect in α-galactosidase A gene which leads to a progressive accumulation of globotriaosylceramide (Gb3) and its metabolites in several organs. Pulmonary manifestations of Fabry disease mimic chronic obstructive pulmonary disease and are disproportionate to smoking status. The effect of enzyme replacement therapy on pulmonary function is inconclusive.