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Hypermobility spectrum disorder

Hypermobility spectrum disorder
Other namesHypermobility syndrome
Joint hypermobility syndrome
Hypermobile thumb
SpecialtyRheumatology, genetics Edit this on Wikidata
SymptomsJoint hypermobility, musculoskeletal pain, fatigue[1]
CausesGenetic[2]

Hypermobility spectrum disorder (HSD), related to earlier diagnoses such as hypermobility syndrome (HMS), and joint hypermobility syndrome (JHS) is a heritable connective tissue disorder[3] that affects joints and ligaments. Different forms and sub-types have been distinguished, but it does not include asymptomatic joint hypermobility, sometimes known as double-jointedness.

Symptoms can include the inability to walk properly or for long distances, and pain in affected areas. Some people with HSD have hypersensitive nerves and a weaker immune system. It can also cause severe fatigue and some cases cause depressive episodes. It is somewhat similar to other genetic connective tissue disorders such as Ehlers–Danlos syndromes. There is a strong association between HSD and neurodevelopmental disorders such as ADHD (attention deficit/hyperactivity disorder) and ASD (autism spectrum disorder).[4]

Classification

Hypermobility spectrum disorders are diagnosed when individuals have symptomatic joint hypermobility but do not meet the criteria for other connective tissue disorders, such as Ehlers–Danlos syndrome.[5]

The term "hypermobility spectrum disorder" was coined in 2017 after criteria for hypermobile Ehlers–Danlos syndrome were made more restrictive. In part, this classification change was designed to address the overlap between joint hypermobility syndrome and what was then known as Ehlers–Danlos syndrome, hypermobility type (EDS-HT), which some researchers believed were the same condition.[6][7][8] While hypermobility spectrum disorders are most analogous to JHS, the 2017 diagnostic criteria for hypermobile Ehlers–Danlos syndrome excludes many people who fit the old criteria, who would instead be diagnosed with hypermobility spectrum disorders.[9]

Hypermobility syndrome and hypermobility spectrum disorders do not include people with asymptomatic hypermobility or people with double-jointedness but no other symptoms. Hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders may be equally severe.[5][8]

Signs and symptoms

Some common symptoms of hypermobility spectrum disorder include:

  • Joint pain (pain can arise in every joint)
  • Exhaustion (typically when affected area is the legs);
  • Swelling around the joint when joint is being exerted;
  • Depression;
  • Weaker immune system;
  • Muscle pain
  • Varying pain levels around the affected areas.
  • Muscle spasms.

Other symptoms can appear and not everyone affected experiences the same symptoms.

Diagnosis

Beighton score

Being diagnosed with hypermobility syndrome can be a difficult task. There is a lack of wide understanding of the condition and it can be considered a zebra condition. As hypermobility syndrome can be easily mistaken for being double-jointed or categorised as nothing more than perhaps an achy body from lack of exercise, medical professionals may diagnose those affected incorrectly and not adequately investigate the symptoms. Due to these circumstances many affected individuals can live not knowing they have it. As a result, those affected without a proper diagnosis can easily injure themselves and not take proper care to ensure they go about working safely.

The Beighton Score can be used to determine generalised joint hypermobility (GJH) related to hypermobility syndrome.[10] The newer term "generalised hypermobility spectrum disorder" includes people with generalised joint hypermobility, often determined using the Beighton Score, and other symptoms. Those who do not meet the Beighton Score criteria may be diagnosed with historical joint hypermobility spectrum disorder, peripheral hypermobility spectrum disorder, or localised hypermobility spectrum disorder.[8]

In comparison to the diagnostic criteria of hypermobile Ehlers–Danlos syndrome, the criteria for hypermobile spectrum disorder are less strict. However, these criteria are differentiated from criteria of other EDS types and therefore its less-strict criteria are only comparable to the criteria of hEDS. As those with HSD experience a considerable amount of discomfort, it is important to focus on the treatment, not the labels. The severity of each condition can be equivalent. In particular, musculoskeletal involvement is a requirement for diagnosis with any form of hypermobility spectrum disorder but not for hypermobile Ehlers–Danlos syndrome. Like hypermobile Ehlers–Danlos syndrome, hypermobility spectrum disorders are associated with orthostatic tachycardia, gastrointestinal disorders, and pelvic and bladder dysfunction.[11]

Treatment

Treating hypermobility syndrome can be difficult. The condition has no direct cure, but its symptoms can be treated. Physiotherapy, particularly exercise, is the main treatment for the condition, although there is only limited evidence for its effectiveness.[12]

Treatments for pain include:

  • Bandaging the affected area;
  • Placing an ice pack on the affected area;
  • Taking over the counter pain killers such as paracetamol or ibuprofen.

Prevalence

Prevalence of the condition is unknown, but can be high in those attending musculoskeletal services.[7][13]

References

  1. ^ "What Is HSD?". The Ehlers–Danlos Society. Retrieved 30 May 2018.
  2. ^ Hakim, Alan. "Hypermobility Disorders- An Update for Clinicans". Hypermobility Syndromes Association. Retrieved 30 May 2018.
  3. ^ "Hypermobile Ehlers–Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 19 June 2017.
  4. ^ Kindgren, Erik; Perez, Antonia Quiñones; Knez, Rajna (10 February 2021). "Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers–Danlos Syndrome: A Retrospective Study". Neuropsychiatric Disease and Treatment. 17: 379–388. doi:10.2147/NDT.S290494. PMC 7882457. PMID 33603376.
  5. ^ a b "What are the hypermobility spectrum disorders?". The Ehlers Danlos Society. Retrieved 20 October 2020.
  6. ^ B.T. Tinkle, Issues and Management of Joint Hypermobility. A Guide for the Ehlers–danlos Syndrome Hypermobility Type and the Hypermobility Syndrome, Left Paw Press, USA (2008)
  7. ^ a b Palmer et al., 2017
  8. ^ a b c Castori, Marco; Tinkle, Brad; Levy, Howard; Grahame, Rodney; Malfait, Fransiska; Hakim, Alan (March 2017). "A framework for the classification of joint hypermobility and related conditions". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 175 (1): 148–157. doi:10.1002/ajmg.c.31539. hdl:1854/LU-8510229. ISSN 1552-4876. PMID 28145606.
  9. ^ Castori, Marco; Tinkle, Brad; Levy, Howard; Grahame, Rodney; Malfait, Fransiska; Hakim, Alan (2017). "A framework for the classification of joint hypermobility and related conditions". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175 (1): 148–157. doi:10.1002/ajmg.c.31539. hdl:1854/LU-8510229. ISSN 1552-4876. PMID 28145606.
  10. ^ "Assessing Joint Hypermobility". The Ehlers–Danlos Society. Retrieved 30 May 2018.
  11. ^ Ehlers–Danlos Society. "Hypermobile Ehlers–Danlos syndrome (hEDS) vs. hypermobility spectrum disorders (HSD): What's the difference?" (PDF). Ehlers–Danlos Society. Retrieved 31 January 2019.
  12. ^ Palmer et al., 2014
  13. ^ E. Connelly, A. Hakim, S. Davenport, J. Simmonds. "A study exploring the prevalence of joint hypermobility syndrome in patients attending a musculoskeletal triage clinic." Physiother. Pract. Res., 36 (1) (2015), pp. 43-53
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Hypermobility spectrum disorder
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