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Idiopathic subglottic stenosis: a familial predisposition
Elaine Dumoulin1, David R Stather, Gary Gelfand
1Department of Medicine, University of Sherbrooke, Sherbrooke, Quebec. elaine.dumoulin@usherbrooke.ca
The Annals of Thoracic Surgery
|February 27, 2013
Summary
Idiopathic subglottic stenosis, a rare tracheal narrowing, may have a genetic link. This study reports familial cases, suggesting a potential inherited predisposition for this condition.
Area of Science:
- Pulmonology
- Genetics
- Otolaryngology
Background:
- Idiopathic subglottic stenosis (iSGS) is a rare tracheal narrowing of unknown cause.
- The condition's incidence is poorly understood due to diagnostic challenges.
- While a female predominance exists, familial cases have not been previously documented.
Observation:
- This report details two pairs of sisters and one mother-daughter set with iSGS.
- Thorough exclusion of known causes of tracheal stenosis was performed for all individuals.
- No other common etiological factors like prolonged intubation, surgery, autoimmune diseases, infections, or GERD were identified.
Findings:
- The observed familial clustering of iSGS cases is unprecedented.
- These cases strongly suggest a potential genetic predisposition in the etiology of iSGS.
- This challenges the previously held notion of non-familial inheritance.
Implications:
- The findings may necessitate a re-evaluation of iSGS diagnostic and genetic counseling protocols.
- Further research into the genetic underpinnings of iSGS is warranted.
- Identifying genetic factors could lead to novel diagnostic or therapeutic strategies for iSGS.
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