RT Journal Article
SR Electronic
T1 Effect of enzyme replacement therapy (ERT) on lung involvement and changes of different peripheral blood T-cell subsets in Fabry disease patients
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP 1795
VO 42
IS Suppl 57
A1 Balazs Odler
A1 Tamas Constantin
A1 Gyorgy Fekete
A1 Gyorgy Losonczy
A1 Aron Cseh
A1 Lilla Tamasi
A1 Veronika Muller
YR 2013
UL http://erj.ersjournals.com/content/42/Suppl_57/1795.abstract
AB Fabry disease (α-galactosidase A deficiency) is a lysosomal storage disorder, causing accumulation of globotriaosylceramid in different organs. The most effective treatment is ERT, which stabilizes the condition of the patient. Glycolipids activate different immune cells leading to inflammation. Lung manifestation is characterized by airway inflammation; however data on severity and effects of ERT are missing.Six affected and 5 carrier patients were screened for pulmonary manifestations. Repetitive measurements were performed on 6 patients on ERT (average follow-up 3 years). Patients with Fabry disease (n=3) and control volunteers (n=13) were included into peripheral blood cell measurements.Lung involvement was present in all patients and one carrier, all having also other organ involvement and required ERT (age: 34.4±13.0 years). Symptoms suggestive for lung disease were scarce, however in all patients on ERT non reversible obstructive ventilatory disorder was present (FVC: 3.5±1.1L (87.2±16.5 %), FEV1: 2.1±0.9 L (63.3±24.7 %)). ERT resulted in stabilization of lung function in all treated patients (ΔFVC: 0.14±0.42 L (7.5±10%); ΔFEV1: 0.13±0.31 L (7.4±14.0%)). Increased level of Th1 (70.1±11.1 vs. 51.7±21.8%; p<0.05), decrease in Treg cells (1.51±1.12 vs. 2.80±0.98%;. p<0,05) were detected in Fabry patients.Fabry disease in affected patients results mainly in asymptomatic non-reversible obstructive ventilatory disorder, stabilized by ERT. Significant increase of Th1 while decrease in Treg cells were detected in peripheral blood of Fabry patients.