title: Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience.
abstract: Hypermobility type Ehlers-Danlos syndrome (EDS-HT) is an inherited connective tissue disorder clinically diagnosed by the presence of significant joint hypermobility and associated skin manifestations. This article presents a large-scale study that reports the lived experience of EDS-HT patients, the broad range of symptoms that individuals with EDS-HT experience, and the impact these symptoms have on daily functioning. A 237-item online survey, including validated questions regarding pain and depression, was developed. Four hundred sixty-six (466) adults (90% female, 52% college or higher degree) with a self-reported diagnosis of EDS-HT made in a clinic or hospital were included. The most frequently reported symptoms were joint pain (99%), hypermobility (99%), and limb pain (91%). They also reported a high frequency of other conditions including chronic fatigue (82%), anxiety (73%), depression (69%), and fibromyalgia (42%). Forty-six percent of respondents reported constant pain often described as aching and tiring/exhausting. Despite multiple interventions and therapies, many individuals (53%) indicated that their diagnosis negatively affected their ability to work or attend school. Our results show that individuals with EDS-HT can experience a wide array of symptoms and co-morbid conditions. The degree of constant pain and disability experienced by the majority of EDS-HT respondents is striking and illustrates the impact this disorder has on quality of life as well as the clinical challenges inherent in managing this complex connective tissue disorder.
authors.affiliation: Division of Cardiology, Johns Hopkins Hospital, Baltimore, Maryland.
authors.forename: Brittney
authors.initials: B
authors.lastname: Murray
authors.forename: Beverly M
authors.initials: BM
authors.lastname: Yashar
authors.forename: Wendy R
authors.initials: WR
authors.lastname: Uhlmann
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Clauw
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Petty
mesh_terms: D018771:Arthralgia / Q000150:complications / Q000503:physiopathology*; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D005121:Extremities / Q000503:physiopathology; D005221:Fatigue / Q000503:physiopathology; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000503:physiopathology*; D008297:Male; D011788:Quality of Life
keywords: Ehlers-Danlos syndrome; Type III; chronic pain; connective tissue disorders; disability; hypermobility; joint laxity; lived experience