Early recognition of airway obstruction in Fabry disease and correlation with dyspnea: A case series

Paola Faverio, Marco Mantero, Federico Pieruzzi, Giacomo Torti, Antonella Di Giacomo, Alberto Pesci

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disease that mainly affects kidney, heart and the nervous system, but a respiratory involvement, in the form of obstructive airway disease, has also been described. METHODS: We performed a complete evaluation of pulmonary functional tests (PFTs) on 18 consecutive adult patients with FD. In our cohort we identified 5 subjects with main airway obstruction, but only 2 had airway obstruction in absence of causes other than FD. RESULTS: We found in the majority of patients early signs of airway obstruction, including small-airway obstruction, mild to moderate lung hyperinflation and mild to moderate increase in specific airway resistance. Lung hyperinflation (expressed as increased residual volume at plethysmography) was positively correlated with the presence of dyspnea (both at rest and after exertion). CONCLUSIONS: Therefore complete PFTs, which can detect early signs of airway obstruction, may be considered as a useful screening tool for patients with FD, particularly for those presenting with dyspnea.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalMinerva Pneumologica
Issue number1
Publication statusPublished - Mar 1 2016


  • Airway obstruction
  • Fabry disease
  • Respiratory function tests

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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