Long time enzyme replacement therapy stabilizes obstructive lung disease and alters peripheral immune cell subsets in Fabry patients

Balázs Odler, Áron Cseh, T. Constantin, G. Fekete, G. Losonczy, L. Tamási, Kálmán Benke, Bálint Szilveszter, V. Müller

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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 four carriers underwent detailed clinical examinations screening for pulmonary manifestations. Repetitive measurements were performed on five 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.

Original languageEnglish
Pages (from-to)942-950
Number of pages9
JournalClinical Respiratory Journal
Volume11
Issue number6
DOIs
Publication statusPublished - Nov 1 2017

Fingerprint

Enzyme Replacement Therapy
Obstructive Lung Diseases
Lung
Fabry Disease
Inflammation
Th17 Cells
Th1 Cells
Glycolipids
Regulatory T-Lymphocytes
Airway Obstruction
Lung Diseases
Volunteers
Blood Cells

Keywords

  • dendritic cell
  • Fabry disease
  • immune cell
  • lung function
  • obstructive
  • pulmonary

ASJC Scopus subject areas

  • Immunology and Allergy
  • Pulmonary and Respiratory Medicine
  • Genetics(clinical)

Cite this

Long time enzyme replacement therapy stabilizes obstructive lung disease and alters peripheral immune cell subsets in Fabry patients. / Odler, Balázs; Cseh, Áron; Constantin, T.; Fekete, G.; Losonczy, G.; Tamási, L.; Benke, Kálmán; Szilveszter, Bálint; Müller, V.

In: Clinical Respiratory Journal, Vol. 11, No. 6, 01.11.2017, p. 942-950.

Research output: Contribution to journalArticle

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