Lam, CM; Wood, G; Birchall, MA; (2021) Laryngological presentations and patient-reported outcome measures in Ehlers-Danlos syndrome. Journal of Laryngology and Otology 10.1017/S0022215121004072. (In press).

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Abstract

OBJECTIVE: This study aimed to characterise the laryngological presentations of Ehlers–Danlos syndrome and conduct a preliminary exploration of patient-reported outcome measures. METHODS: This paper describes a retrospective case series of patients with Ehlers–Danlos syndrome seen by the senior author between 2005 and 2019. A literature review was conducted to summarise the existing findings. RESULTS: Twenty-one patients met the inclusion criteria. All reported symptoms were grouped; this showed that swallowing, voice and hyolaryngeal skeletal complex problems were commonest. Patient-reported outcome measures were available for eight patients, which showed large variations in: the Reflux Severity Index (median = 25.5; range = 0–33), Eating Assessment Tool score (median = 21.5; range = 0–35) and Voice Handicap Index (median = 21.5; range = 0–104). Twelve studies met our literature review inclusion criteria, involving at least 91 patients with laryngological presentations of Ehlers–Danlos syndrome. CONCLUSION: Ehlers–Danlos syndrome patients experience musculoskeletal issues, which in the throat manifest as hyolaryngeal skeletal complex problems. Future studies with larger patient numbers are required to validate laryngological patient-reported outcome measure tools in Ehlers–Danlos syndrome.

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