Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy

Am J Med Genet A. 2007 Feb 15;143(4):377-81. doi: 10.1002/ajmg.a.31600.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Dyspnea / pathology
  • Dyspnea / therapy
  • Fabry Disease / drug therapy*
  • Female
  • Humans
  • Isoenzymes / therapeutic use*
  • Lung / diagnostic imaging
  • Lung Diseases, Interstitial / diagnostic imaging
  • Lung Diseases, Interstitial / drug therapy*
  • Oxygen / metabolism
  • Oxygen Inhalation Therapy
  • Radiography
  • Treatment Outcome
  • alpha-Galactosidase / therapeutic use*


  • Isoenzymes
  • alpha-Galactosidase
  • agalsidase beta
  • Oxygen