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Updated: Jul 17, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Pulmonary involvement in Fabry disease
L K Brown1, A Miller, A Bhuptani
1Department of Medicine, Mount Sinai Medical Center, New York, New York, USA.
Summary
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.
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.
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