Ehlers–Danlos syndrome

Ehlers–Danlos syndrome
Pronunciation
  • /ˈeɪlərz ˈdænlɒs/
SpecialtyMedical genetics
SymptomsOverly flexible joints, stretchy skin, abnormal scar formation[1]
ComplicationsAortic dissection, joint dislocations, osteoarthritis,[1] amplified musculoskeletal pain syndrome[2]
Usual onsetChildhood or adolescence, depending on type[3]
DurationLifelong[4]
TypesHypermobile, classic, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis, brittle cornea syndrome, others[5]
CausesGenetic[1]
Risk factorsFamily history[1]
Diagnostic methodGenetic testing, physical examination[4]
Differential diagnosisMarfan syndrome, cutis laxa syndrome, familial joint hypermobility syndrome,[4] Loeys–Dietz syndrome, hypermobility spectrum disorder
TreatmentSupportive[6]
PrognosisDepends on specific disorder[4]
Frequency1 in 5,000[1]

Ehlers–Danlos syndromes (EDS) are a group of 14 genetic connective tissue disorders.[7] Symptoms often include loose joints, joint pain, stretchy, velvety skin, and abnormal scar formation.[1] These may be noticed at birth or in early childhood.[3] Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.[1][4] The existing classification was last updated in 2017, when a number of rarer forms of EDS were added.[1][8]

EDS occurs due to mutations in one or more particular genes—there are 19 genes that can contribute to the condition.[1] The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown.[1][9] Some cases result from a new variation occurring during early development. In contrast, others are inherited in an autosomal dominant or recessive manner.[1] Typically, these variations result in defects in the structure or processing of the protein collagen or tenascin.[1]

Diagnosis is often based on symptoms, particularly hEDS, but people may initially be misdiagnosed with somatic symptom disorder, depression, or myalgic encephalomyelitis/chronic fatigue syndrome.[4] Genetic testing can be used to confirm all types of EDS except hEDS, for which a genetic marker has yet to be discovered.[9]

A cure is not yet known,[6] and treatment is supportive in nature.[4] Physical therapy and bracing may help strengthen muscles and support joints.[4] Several medications can help alleviate symptoms of EDS, such as pain and blood pressure drugs, which reduce joint pain and complications caused by blood vessel weakness.[10] Some forms of EDS result in a normal life expectancy, but those that affect blood vessels generally decrease it.[6] All forms of EDS can result in fatal outcomes for some patients.[11][12][13]

While hEDS affects at least one in 5,000 people globally,[1][14] other types occur at lower frequencies.[11][8] The prognosis depends on the specific disorder.[4] Excess mobility was first described by Hippocrates in 400 BC.[15] The syndromes are named after two physicians, Edvard Ehlers and Henri-Alexandre Danlos, who described them at the turn of the 20th century.[16]

  1. ^ a b c d e f g h i j k l m "Ehlers–Danlos syndrome". MedlinePlus. U.S. National Library of Medicine. Archived from the original on 8 May 2016. Retrieved 9 January 2024. The 2017 classification describes 13 types of Ehlers–Danlos syndrome.
  2. ^ "Amplified Musculoskeletal Pain Syndrome (AMPS)". Children's Health.
  3. ^ a b Anderson BE (2012). The Netter Collection of Medical Illustrations – Integumentary System (2nd ed.). Elsevier Health Sciences. p. 235. ISBN 978-1455726646. Archived from the original on 2017-11-05 – via E-Book.
  4. ^ a b c d e f g h i Lawrence EJ (December 2005). "The clinical presentation of Ehlers–Danlos syndrome". Advances in Neonatal Care. 5 (6): 301–314. doi:10.1016/j.adnc.2005.09.006. PMID 16338669. S2CID 7717730.
  5. ^ Cite error: The named reference GARD2017 was invoked but never defined (see the help page).
  6. ^ a b c Ferri FF (2016). Ferri's Netter Patient Advisor. Elsevier Health Sciences. p. 939. ISBN 9780323393249. Archived from the original on 2017-11-05.
  7. ^ Dattagupta A, Williamson S, El Nihum LI, Petak S (2022-11-01). "A Case of Spondylodysplastic Ehlers–Danlos Syndrome With Comorbid Hypophosphatasia". AACE Clinical Case Reports. 8 (6): 255–258. doi:10.1016/j.aace.2022.08.005. PMC 9701907. PMID 36447830.
  8. ^ a b Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. (March 2017). "The 2017 international classification of the Ehlers–Danlos syndromes". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 175 (1): 8–26. doi:10.1002/ajmg.c.31552. PMID 28306229. S2CID 4440499.
  9. ^ a b "Genetics and Inheritance of EDS and HSD". The Ehlers–Danlos Society. 2023.
  10. ^ "Ehlers-Danlos syndrome - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org.
  11. ^ a b Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, et al. (March 2017). "The Ehlers–Danlos syndromes, rare types". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 175 (1): 70–115. doi:10.1002/ajmg.c.31550. hdl:1765/98894. PMID 28306225. S2CID 4439633.
  12. ^ Doolan BJ, Lavallee ME, Hausser I, Schubart JR, Michael Pope F, Seneviratne SL, et al. (23 Jan 2023). "Extracutaneous features and complications of the Ehlers–Danlos syndromes: A systematic review". Frontiers in Medicine. 10 1053466. doi:10.3389/fmed.2023.1053466. PMC 9899794. PMID 36756177.
  13. ^ Marathe N, Lohkamp LN, Fehlings MG (December 2022). "Spinal manifestations of Ehlers–Danlos syndrome: a scoping review". Journal of Neurosurgery. Spine. 37 (6): 783–793. doi:10.3171/2022.6.SPINE211011. PMID 35986728. S2CID 251694109.
  14. ^ Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, et al. (March 2017). "Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 175 (1): 48–69. doi:10.1002/ajmg.c.31538. PMID 28145611. S2CID 4440630.
  15. ^ Beighton PH, Grahame R, Bird HA (2011). Hypermobility of Joints. Springer. p. 1. ISBN 9781848820852. Archived from the original on 2017-11-05.
  16. ^ Byers PH, Murray ML (November 2012). "Heritable collagen disorders: the paradigm of the Ehlers–Danlos syndrome". The Journal of Investigative Dermatology. 132 (E1): E6-11. doi:10.1038/skinbio.2012.3. PMID 23154631.
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