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Chronic airflow obstruction in Fabry's disease
The American Journal of Medicine
|June 1, 1980
Summary
Patients with Fabry's disease experience significant airway obstruction due to ceramide trihexoside deposits. Cigarette smoking exacerbates this obstruction, posing a particular hazard to individuals with this genetic disorder.
Area of Science:
- Pulmonary Medicine
- Genetics
- Metabolic Disorders
Background:
- Fabry's disease is an X-linked sphingolipidosis.
- Airway obstruction is a potential complication.
- The role of intrinsic airway disease is not fully understood.
Purpose of the Study:
- To evaluate airway obstruction in Fabry's disease patients.
- To investigate the presence of ceramide trihexoside in airway epithelial cells.
- To determine the impact of smoking on airflow obstruction in this population.
Main Methods:
- Bronchoscopy was performed on seven patients with Fabry's disease.
- Airflow obstruction was assessed using spirometry.
- Airway epithelial cells were examined for inclusion bodies.
Main Results:
- All patients exhibited significant airflow obstruction.
- Airway epithelial cells contained inclusion bodies consistent with ceramide trihexoside deposits.
- Airflow obstruction was markedly worse in patients who smoked.
Conclusions:
- Intrinsic airway disease may contribute to airflow obstruction in Fabry's disease.
- Cigarette smoking poses a significant additional risk to lung function in these patients.
- Early identification and avoidance of smoking are crucial for managing Fabry's disease patients.