PT - JOURNAL ARTICLE AU - Balazs Odler AU - Tamas Constantin AU - Gyorgy Fekete AU - Gyorgy Losonczy AU - Aron Cseh AU - Lilla Tamasi AU - Veronika Muller TI - Effect of enzyme replacement therapy (ERT) on lung involvement and changes of different peripheral blood T-cell subsets in Fabry disease patients DP - 2013 Sep 01 TA - European Respiratory Journal PG - 1795 VI - 42 IP - Suppl 57 4099 - http://erj.ersjournals.com/content/42/Suppl_57/1795.short 4100 - http://erj.ersjournals.com/content/42/Suppl_57/1795.full SO - Eur Respir J2013 Sep 01; 42 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.