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Pulmonary involvement in Fabry disease

L K Brown1, A Miller, A Bhuptani

  • 1Department of Medicine, Mount Sinai Medical Center, New York, New York, USA.

American Journal of Respiratory and Critical Care Medicine
|March 1, 1997
PubMed
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Airway obstruction is common in men with Fabry disease, an inherited metabolic disorder. This condition, caused by alpha-galactosidase A deficiency, worsens with age and may be linked to specific genetic mutations.

Area of Science:

  • Metabolic Disorders
  • Pulmonary Medicine
  • Genetics

Background:

  • Fabry disease is an X-linked metabolic disorder due to alpha-galactosidase A deficiency.
  • Previous reports suggest a link between Fabry disease and airway obstruction, but large-scale studies are lacking.

Purpose of the Study:

  • To investigate the prevalence and characteristics of airway obstruction in a large cohort of men with Fabry disease.

Main Methods:

  • Evaluated 25 men with enzymatically diagnosed Fabry disease.
  • Assessed symptoms (dyspnea, cough, wheezing), spirometry, bronchodilator response, methacholine challenge, and imaging (chest X-ray, Ga citrate, In-leukocyte scans).
  • Correlated findings with age, smoking status, and identified alpha-galactosidase A mutations.

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Main Results:

  • 36% reported dyspnea, 24% had cough/wheezing.
  • Airway obstruction was found in 36% of patients, associated with older age and respiratory symptoms.
  • Obstruction was linked to specific alpha-galactosidase A mutations (frameshift, D264V missense).

Conclusions:

  • Airway obstruction is a common finding in Fabry disease, irrespective of smoking history.
  • Obstruction increases with age and may be associated with specific genetic mutations.
  • The underlying mechanism is likely airway narrowing due to glycosphingolipid accumulation.