Background Fabry disease is an X-linked lysosomal storage disorder, causing accumulation
of globotriaosylceramid in different organs. Glycolipids are activators of different
immune cell subsets, the resulting inflammation is responsible for organ damage. Pulmonary
involvement leads to airway inflammation; however data on severity, as well as the
effect of enzyme replacement therapy on lung function parameters and changes in peripheral
immune cell subsets on lung involvement are sparse. Methods Seven Fabry patients and
4 carriers underwent detailed clinical examinations screening for pulmonary manifestations.
Repetitive measurements were performed on 5 patients on ERT (average follow-up 5 years).
Patients with Fabry disease and control volunteers were included into peripheral blood
cell measurements. Results Lung involvement was present in all patients. Symptoms
suggestive for lung disease were mild, however obstructive ventilatory disorder, dominantly
affecting small airways accompanied by hyperinflation was demonstrated in all affected
patients. ERT resulted in small improvement of FEV1 in most treated patients. Decreased
ratio of myeloid DC, Th17 cells while increase in T helper (Th)1 cells, and no change
in Th2 and regulatory T (Treg) cells were detected in Fabry patients. CONCLUSIONS:
Fabry disease results mainly in mild symptoms related to lung involvement, characterized
by moderate non reversible obstructive ventilatory disorder. Stabilization of airway
obstruction during follow-up was observed using ERT in most patients, emphasizing
the importance of this treatment in respect of pulmonary manifestations. Changes of
immune cell subsets in the peripheral blood might play a role in inflammatory process,
including small airways in Fabry patient's lung. This article is protected by copyright.
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