Idiopathic Subglottic Stenosis: A Familial Predisposition

Dumoulin, Elaine; Stather, David R.; Gelfand, Gary; Maranda, Bruno; MacEachern, Paul; Tremblay, Alain

doi:10.1016/j.athoracsur.2012.07.076

Cited by 22 publications

(19 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The remarkable homogeneity of the iSGS population would appear to offer support for the hypothesis that a conserved and consistent biologic process is driving a singular disease. Although the clinical similarity would suggest a sex‐linked genetic abnormality, the relatively mature age of presentation argues against a purely genetic etiology; additionally, there were no familial cases in our series (although they have been reported). Alternatively, the nearly universal involvement of females, and the age of presentation (∼50 years) coinciding with the hormonal alterations observed in menopause (average age 50), would support a hormonally mediated process; however, this also remains to be elucidated.…”

Section: Discussionmentioning

confidence: 51%

Disease homogeneity and treatment heterogeneity in idiopathic subglottic stenosis

et al. 2015

View full text Add to dashboard Cite

Objectives/Hypothesis: Idiopathic subglottic stenosis (iSGS) is a rare and potentially life-threatening disease marked by recurrent and progressive airway obstruction frequently requiring repeated surgery to stabilize the airway. Unknown etiology and low disease prevalence have limited the ability to characterize the natural history of iSGS and resulted in variability in surgical management. It is uncertain how this variation relates to clinical outcomes. Study Design: Medical record abstraction. Methods: Utilizing an international, multi-institutional collaborative, we collected retrospective data on patient characteristics, treatment, and clinical outcomes. We investigated variation between and within open and endoscopic treatment approaches and assessed therapeutic outcomes; specifically, disease recurrence and need for tracheostomy at last follow-up. Results: Strikingly, 479 iSGS patients across 10 participating centers were nearly exclusively female (98%, 95% confidence interval [CI], 96.1–99.6), Caucasian (95%, 95% CI, 92.2–98.8), and otherwise healthy (mean age-adjusted Charlson Comorbidity Index 1.5; 95% CI, 1.44–1.69). The patients presented at a mean age of 50 years (95% CI, 48.8–51.1). A total of 80.2% were managed endoscopically, whereas 19.8% underwent open reconstruction. Endoscopic surgery had a significantly higher rate of disease recurrence than the open approach (chi2 = 4.09, P = 0.043). Tracheostomy was avoided in 97% of patients irrespective of surgical approach (95% CI, 94.5–99.8). Interestingly, there were outliers in rates of disease recurrence between centers using similar treatment approaches. Conclusion: Idiopathic subglottic stenosis patients are surprisingly homogeneous. The heterogeneity of treatment approaches and the observed outliers in disease recurrence rates between centers raises the potential for improved clinical outcomes through a detailed understanding of the processes of care.

show abstract

Section: Discussionmentioning

confidence: 51%

Disease homogeneity and treatment heterogeneity in idiopathic subglottic stenosis

et al. 2015

View full text Add to dashboard Cite

show abstract

“…6 Other theories on the etiology of the disorder include repetitive microtrauma from cough 7 and hereditary factors. 8 Ultimately a disease of the subglottic lamina propria, no single etiologic factor has been identified.…”

Section: Introductionmentioning

confidence: 99%

Using Pulmonary Function Data to Assess Outcomes in the Endoscopic Management of Subglottic Stenosis

Kraft

Sykes

Palmer

et al. 2014

Ann Otol Rhinol Laryngol

View full text Add to dashboard Cite

show abstract

“…This evolving understanding of iSGS pathogenesis provides testable hypotheses for new investigations regarding local environmental factors potentially explaining the increased prevalence and incidence rates of iSGS in southern and central Alberta. Moreover, hereditary factors may contribute to the observed high case burden of iSGS in this region, as described in previous data reporting multiple independent families with more than one member affected by iSGS in this region [ 41 ]. However, the majority of cases in our sample appear sporadic, so this warrants further investigation.…”

Section: Discussionmentioning

confidence: 92%

Prevalence and incidence of idiopathic subglottic stenosis in southern and central Alberta: a retrospective cohort study

Chan

Ahrens

MacEachern

et al. 2021

J of Otolaryngol - Head & Neck Surg

Self Cite

View full text Add to dashboard Cite

Background Subglottic stenosis (SGS) is a reportedly rare disease that causes recurrent severe airway obstruction. Etiologies reported for SGS include idiopathic, iatrogenic, autoimmune, congenital, and traumatic, with variable ratios among different centres. From empiric observation, southern and central Alberta was hypothesized to have a disproportionate distribution of SGS driven by increased idiopathic SGS (iSGS) compared to previous literature. Identification of causative agents of iSGS will help understand and guide future management options, so this study aimed to characterize the demographics of SGS subtypes, define prevalence and incidence rates of iSGS in southern Alberta, and geographically analyze for clustering of iSGS prevalence. Methods SGS patients from Alberta census divisions No. 1–9 and 15 were retrospectively reviewed. Patients were subtyped according to etiology of SGS and characterized. Idiopathic SGS prevalence and incidence was assessed; prevalence was further geographically segregated by census division and forward sortation area (FSA). Significant clustering patterns were assessed for using a Global Moran’s I analysis. Results From 2010 to 2019 we identified 250 SGS patients, who were substantially overrepresented by idiopathic patients (80.4%) compared to autoimmune (10.0%), iatrogenic (7.6%), congenital (1.2%), and traumatic (0.8%). The total iSGS prevalence was 9.28/100,000 with a mean annual incidence rate of 0.71/100,000 per year. Significant clustering was observed (Moran’s index 0.125; z-score 2.832; p = 0.0046) and the highest rates of prevalence were observed in southern Alberta and in rural communities heterogeneously dispersed around Calgary FSAs. Conclusion In southern and central Alberta, iSGS patients were disproportionately over-represented in contrast to other subtypes with the highest prevalence in southern Alberta. There was a three-fold higher annual incidence compared to previous literature demonstrating the highest rates of disease reported worldwide. Future research aims to expand the geographical scope and to assess for demographic or environmental differences within significant clusters that may contribute to disease pathophysiology. Level of evidence III. Graphical Abstract

show abstract

Idiopathic Subglottic Stenosis: A Familial Predisposition

Cited by 22 publications

References 7 publications

Disease homogeneity and treatment heterogeneity in idiopathic subglottic stenosis

Disease homogeneity and treatment heterogeneity in idiopathic subglottic stenosis

Using Pulmonary Function Data to Assess Outcomes in the Endoscopic Management of Subglottic Stenosis

Prevalence and incidence of idiopathic subglottic stenosis in southern and central Alberta: a retrospective cohort study

Contact Info

Product

Resources

About