Journal
CLINICAL OTOLARYNGOLOGY
Volume 45, Issue 4, Pages 500-505Publisher
WILEY
DOI: 10.1111/coa.13544
Keywords
bilateral; cholesteatoma; cleft lip; cleft palate; family history; genetic
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Funding
- Rosetree Trust
- Royal College of Surgeons of England
- Bernice Bibby Trust
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Objective To explore the relative frequency of a family history of cholesteatoma in patients with known cholesteatoma, and whether bilateral disease or earlier diagnosis is more likely in those with a family history. Associations between cleft lip or palate and bilateral disease and age of diagnosis were also explored. Design An online survey of patients with diagnosed cholesteatoma was conducted between October 2017 and April 2019. Participants The sample consisted of patients recruited from two UK clinics and self-selected respondents recruited internationally via social media. Main outcome measures Side of cholesteatoma, whether respondents had any family history of cholesteatoma, age of diagnosis and personal or family history of cleft lip or palate were recorded. Results Of 857 respondents, 89 (10.4%) reported a positive family history of cholesteatoma. Respondents with a family history of cholesteatoma were more likely to have bilateral cholesteatoma (P = .001, odds ratio (OR) 2.15, 95% confidence interval (CI) 1.35-3.43), but there was no difference in the age of diagnosis (P = .23). Those with a history of cleft lip or palate were not more likely to have bilateral disease (P = .051, OR 2.71, CI 1.00-7.38), and there was no difference in age of diagnosis (P = .11). Conclusion The relatively high proportion of respondents that reported a family history of cholesteatoma offers supporting evidence of heritability in cholesteatoma. The use of social media to recruit respondents to this survey means that the results cannot be generalised to other populations with cholesteatoma. Further population-based research is suggested to determine the heritability of cholesteatoma.
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