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Updated: May 10, 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: overview and perspectives
Daniel Franzen1, Pierre A Krayenbuehl, Olivier Lidove
1Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland; Division of Pneumology, University Hospital Zurich, Zurich, Switzerland.
European Journal of Internal Medicine
|June 4, 2013
Summary
Fabry disease (FD), a genetic disorder, significantly increases the risk of obstructive lung disease. Enzyme replacement therapy
Area of Science:
- Genetics and rare diseases
- Pulmonary medicine
- Lysosomal storage disorders
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency.
- Sphingolipid accumulation in FD causes widespread organ dysfunction.
- Pulmonary involvement in FD, particularly obstructive lung disease, is increasingly recognized.
Purpose of the Study:
- To summarize the current understanding of pulmonary involvement in Fabry disease.
- To highlight the prevalence and potential mechanisms of lung disease in FD patients.
Main Methods:
- Review of existing literature on Fabry disease and respiratory manifestations.
- Analysis of prevalence data comparing FD patients to the general population.
- Discussion of proposed pathomechanisms for airway disease in FD.
Main Results:
- Obstructive lung disease is up to ten times more common in FD patients.
- An accelerated decline in forced expiratory volume in one second (FEV1) is observed.
- Pathogenesis is linked to glycosphingolipid storage causing bronchiolar smooth muscle hyperplasia.
Conclusions:
- Fabry disease is associated with a high prevalence of obstructive lung disease.
- Small airway disease is a key feature, with potential larger airway involvement.
- Further research, including controlled trials, is needed to evaluate enzyme replacement therapy's effect on respiratory outcomes.
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