Document Detail

Pulmonary involvement in Fabry disease.
MedLine Citation:
PMID:  9116979     Owner:  NLM     Status:  MEDLINE    
Fabry disease is an X-linked inborn error of metabolism resulting from deficient activity of alpha-galactosidase A. Although several case reports have suggested an association between Fabry disease and airway obstruction, this has not been investigated in a large series of patients. We studied 25 unselected, consecutive, enzymatically diagnosed men referred to a General Clinical Research Center for evaluation. Thirty-six percent complained of dyspnea, and 24% had cough and/or wheezing. Symptoms were similar in smokers and nonsmokers. Nine (36%) had airway obstruction on spirometry; this finding was associated with age > or = 26 yr (p < 0.05) and dyspnea or wheezing (p < 0.005), but only weakly with smoking (p = 0.062). Five of eight patients responded to bronchodilators, but all 10 methacholine challenges were negative. Chest radiographs revealed normal lung fields in 24 patients and streaky bibasilar densities in one. No pulmonary uptake occurred on 67Ga citrate scans (18 patients) and 111In-tagged leukocyte scans (16 patients). Specific alpha-galactosidase A mutations were identified in 17 patients; all three patients with frameshift mutations and both subjects with the D264V missense mutation had obstructive impairment. We conclude that airway obstruction commonly occurs in patients with Fabry disease regardless of smoking history, and it increases with age. The presence of obstruction may be associated with certain mutations and most likely results from fixed narrowing of the airways by accumulated glycosphingolipid.
L K Brown; A Miller; A Bhuptani; M F Sloane; M I Zimmerman; G Schilero; C M Eng; R J Desnick
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of respiratory and critical care medicine     Volume:  155     ISSN:  1073-449X     ISO Abbreviation:  Am. J. Respir. Crit. Care Med.     Publication Date:  1997 Mar 
Date Detail:
Created Date:  1997-04-18     Completed Date:  1997-04-18     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9421642     Medline TA:  Am J Respir Crit Care Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1004-10     Citation Subset:  AIM; IM    
Department of Medicine, Mount Sinai Medical Center, New York, New York, USA.
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MeSH Terms
Age Factors
Airway Obstruction / etiology*,  genetics
Bronchial Provocation Tests
Bronchoconstrictor Agents / diagnostic use
Fabry Disease / complications*,  enzymology,  genetics
Gallium Radioisotopes / diagnostic use
Lung / radionuclide imaging
Lung Diseases / diagnosis,  enzymology,  etiology*,  genetics
Methacholine Chloride / diagnostic use
Middle Aged
Risk Factors
Smoking / adverse effects
alpha-Galactosidase / genetics
Grant Support
Reg. No./Substance:
0/Bronchoconstrictor Agents; 0/Gallium Radioisotopes; 62-51-1/Methacholine Chloride; EC

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