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Official Journal of the Italian Society of Thoracic Endoscopy
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Minerva Pneumologica 2016 March;55(1):1-6

Copyright © 2016 EDIZIONI MINERVA MEDICA

language: English

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

Paola FAVERIO 1, Marco MANTERO 2, Federico PIERUZZI 3, Giacomo TORTI 3, Antonella DI GIACOMO 3, Alberto PESCI 1

1 Department of Health Science, Respiratory Unit, University of Milan Bicocca, San Gerardo Hospital, Monza, Italy; 2 Department of Pathophysiology and Transplantation, University of Milan, IRCCS Fondazione Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy; 3 Department of Health Science, Nephrology Clinic, University of Milan Bicocca, San Gerardo Hospital, Monza, Italy


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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.

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