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Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy
Author(s) -
Kim Woojin,
Pyeritz Reed E.,
Bernhardt Barbara A.,
Casey Michael,
Litt Harold I.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31600
Subject(s) - enzyme replacement therapy , fabry disease , medicine , pulmonary function testing , disease , fabry's disease , pulmonary disease , oxygen therapy , surgery
Fabry disease affects multiple organs, including the lungs. To date, there have been no reports of the effect of enzyme replacement therapy on patients with pulmonary manifestations of the disease. We report on a case of marked improvement of pulmonary signs and symptoms in a patient with Fabry disease following enzyme replacement therapy. A 38‐year‐old female with Fabry disease presented with dyspnea requiring constant supplemental oxygen. Following bi‐weekly treatment with agalsidase beta, she demonstrated marked improvement in her pulmonary symptoms, eventually no longer needing supplemental oxygen and returning to an active lifestyle. Improvement was seen on pulmonary function tests and chest CT examinations. Enzyme replacement therapy may alleviate pulmonary dysfunction in patients with Fabry disease. © 2007 Wiley‐Liss, Inc.