Open AccessPulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation
Author(s) -
PietiläEffati Päivi,
Söderström Johan,
Saarinen Jukka T.,
Löyttyniemi Eliisa,
Kantola Ilkka
Publication year - 2022
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1915
Subject(s) - medicine , enzyme replacement therapy , fabry disease , spirometry , pulmonary function testing , globotriaosylceramide , cardiology , disease , asthma
Background Fabry disease (FD) is caused by a defect in α‐galactosidase A gene (GLA) which leads to a progressive accumulation of neutral shingolipids, mainly globotriaosylceramide and its metabolites in several organs. Pulmonary manifestations of FD mimic chronic obstructive pulmonary disease and are disproportionate to smoking status. The effect of enzyme replacement therapy (ERT) on pulmonary function is inconclusive. We studied the effect of ERT on pulmonary function in FD with a mutation p. Arg227Ter (p.R227*) which is one of the most common mutations causing classical FD in Finland and worldwide. Methods Patients were annually examined by multidisciplinary team. Based on the maximal pulmonary oxygen consumption at the baseline, either cardiopulmonary exercise test or combination of spirometry and 6‐minute walking test were performed annually during 5‐year follow‐up. Results Four males and eight females met the criteria for ERT and were included in this study. Three of 12 patients had obstruction by GOLD criterion before ERT, and one had a borderline obstruction. In 5 years, five patients were classified as obstructive, although the real change in FEV1/FVC was unchanged in the whole cohort. Only one patient was an active smoker. Conclusion In nonsmokers, pulmonary manifestations in classical FD are mild and might be stabilized by ERT.