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
