title: Pulmonary involvement in Fabry disease: overview and perspectives.
abstract: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A, which leads to storage of sphingolipids in virtually all human cells and consequently to organ dysfunction. Pulmonary involvement is still debated. But, obstructive lung disease is up to ten times more prevalent in patients with FD compared to general public. Also, an accelerated decline in forced expiratory volume in one second (FEV1) over time was observed in these patients. Lysosomal storage of glycosphingolipids is considered leading to small airway disease via hyperplasia of the bronchiolar smooth muscle cells. Larger airways may become involved with ongoing disease process. There is no evidence for involvement of the lung interstitium in FD. The effect of enzyme replacement therapy on respiratory involvement remains to be determined in large, prospective controlled trials.
authors.affiliation: Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland; Division of Pneumology, University Hospital Zurich, Zurich, Switzerland. Electronic address: daniel.franzen@usz.ch.
authors.forename: Daniel
authors.initials: D
authors.lastname: Franzen
authors.forename: Pierre A
authors.initials: PA
authors.lastname: Krayenbuehl
authors.forename: Olivier
authors.initials: O
authors.lastname: Lidove
authors.forename: John-David
authors.initials: JD
authors.lastname: Aubert
authors.forename: Frederic
authors.initials: F
authors.lastname: Barbey
mesh_terms: D055745:Bronchioles / Q000473:pathology / Q000503:physiopathology*; D000795:Fabry Disease / Q000150:complications / Q000473:pathology / Q000503:physiopathology*; D005541:Forced Expiratory Volume; D006801:Humans; D006965:Hyperplasia / Q000473:pathology; D008173:Lung Diseases, Obstructive / Q000209:etiology / Q000473:pathology / Q000503:physiopathology*; D032389:Myocytes, Smooth Muscle / Q000473:pathology
keywords: Bronchiolar; Fabry disease; Lung; Obstructive; Pulmonary; Respiratory