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Am J Med Genet A. 2013 Dec;161A(12):2981-8. doi: 10.1002/ajmg.a.36293. Epub 2013 Nov 6.

Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience.

Author information

1
Division of Cardiology, Johns Hopkins Hospital, Baltimore, Maryland.

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.

KEYWORDS:

Ehlers-Danlos syndrome; Type III; chronic pain; connective tissue disorders; disability; hypermobility; joint laxity; lived experience

PMID:
24254846
DOI:
10.1002/ajmg.a.36293
[Indexed for MEDLINE]

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