Publication Type	Academic Article
Authors	Rosenberg D, Ferrans V, Fulmer J, Line B, Barranger J, Brady R, Crystal R
Journal	Am J Med
Volume	68
Issue	6
Pagination	898-905
Date Published	06/01/1980
ISSN	0002-9343
Keywords	Airway Obstruction, Fabry Disease
Abstract	Seven patients with Fabry's disease, an x-linked sphingolipid storage disorder, were evaluated for the presence and extent of airway obstruction. All were found to have significant obstruction to airflow. In addition, evaluation of their airway epithelial cells obtained by bronchoscopy demonstrated that these cells contained inclusion bodies consistent with deposits of ceramide trihexoside, suggesting that part of their functional obstruction to airflow may be secondary to intrinsic airway disease. Although all of the study population had evidence of airflow obstruction, the impairment was much worse in those who smoked, implying that even mild cigarette smoking is particularly hazardous to patients with Fabry's disease.
DOI	10.1016/0002-9343(80)90224-7
PubMed ID	6247911