Laryngological presentations and patient-reported outcome measures in Ehlers-Danlos syndrome

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.