Published online by Cambridge University Press: 10 December 2021
This study aimed to characterise the laryngological presentations of Ehlers–Danlos syndrome and conduct a preliminary exploration of patient-reported outcome measures.
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.
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.
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.
Prof M Birchall takes responsibility for the integrity of the content of the paper
Presented at the virtual Ehlers-Danlos Society ECHO Summit, 2–3 October 2020 (online event).