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Ehlers–Danlos syndromes

From Wikipedia
Ehlers-Danlos syndrome
designated intractable/rare disease, class of disease, signs den symptoms
Subclass ofcollagen disease, disease Edit
Dem name afterEdvard Ehlers, Henri-Alexandre Danlos Edit
Has causemutation Edit
Health specialtymedical genetics Edit
Symptoms and signsskin hyperelasticity, joint hypermobility Edit
Medical examinationBeighton scale, genetic testing, skin biopsy Edit
Anatomical locationconnective tissue Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/4801 Edit
ICD-9-CM756.83 Edit
ICPC 2 IDL82 Edit
NCI Thesaurus IDC34568 Edit

Ehlers–Danlos syndromes (EDS) be a group of 13 genetic connective tissue disorders.[1] Symptoms often dey include loose joints, joint pain, stretchy, velvety skin, den abnormal scar formation. Dese fi be noticed at birth anaa insyd early childhood.[2] Complications fi include aortic dissection, joint dislocations, scoliosis, chronic pain, anaa early osteoarthritis.[3] Na dem last update existing classification insyd 2017, wen na dem add a number of rarer forms of EDS.[4]

EDS dey occur secof mutations insyd one anaa more particular genes—der be 19 genes wey fi contribute to de condition. De specific gene affected dey determine de type of EDS, though de genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) be still unknown.[5] Some cases dey result from a new variation wey dey occur during early development. In contrast, dem dey inherit odas insyd an autosomal dominant anaa recessive manner. Typically, dese variations dey result insyd defects insyd de structure anaa processing of de protein collagen anaa tenascin.

Diagnosis often dey base on symptoms, particularly hEDS, buh people initially fi be misdiagnosed plus somatic symptom disorder, depression, anaa myalgic encephalomyelitis/chronic fatigue syndrome. Dem fi use genetic testing to confirm all types of EDS except hEDS, for wich a genetic marker yet to be discovered.[5]

A cure no yet be known,[6] wey treatment be supportive in nature.[7] Physical therapy den bracing fi help strengthen muscles den support joints.[7] Chaw medications fi help alleviate symptoms of EDS, such as pain den blood pressure drugs, wich dey reduce joint pain den complications wey be caused by blood vessel weakness.[8] Sam forms of EDS result insyd a normal life expectancy, buh those wey dey affect blood vessels generally decrease am.[6] All forms of EDS fi result insyd fatal outcomes give sam patients.[9][10][11]

While hEDS dey affect at least one insyd 5,000 people globally,[12] oda types fi occur at lower frequencies.[4][9] De prognosis dey depend on de specific disorder.[3] Na dem first describe excess mobility by Hippocrates insyd 400 BC.[13] Na dem name de syndromes after two physicians, Edvard Ehlers den Henri-Alexandre Danlos, wey describe dem at de turn of de 20th century.[14]

References

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  1. ↑ 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.
  2. ↑ Anderson BE (2012). The Netter Collection of Medical Illustrations – Integumentary System (2nd ed.). Elsevier Health Sciences. p. 235. ISBN 978-1-4557-2664-6. Archived from the original on 2017-11-05 – via E-Book.
  3. ↑ 3.0 3.1 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.
  4. ↑ 4.0 4.1 Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B (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.
  5. ↑ 5.0 5.1 "Genetics and Inheritance of EDS and HSD". The Ehlers–Danlos Society. 2023.
  6. ↑ 6.0 6.1 Ferri FF (2016). Ferri's Netter Patient Advisor. Elsevier Health Sciences. p. 939. ISBN 978-0-323-39324-9. Archived from the original on 2017-11-05.
  7. ↑ 7.0 7.1 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.
  8. ↑ "Ehlers-Danlos syndrome - Diagnosis and treatment - Mayo Clinic". www.mayoclinic.org.
  9. ↑ 9.0 9.1 Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F (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.
  10. ↑ Doolan BJ, Lavallee ME, Hausser I, Schubart JR, Michael Pope F, Seneviratne SL, Winship IM, Burrows NP (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.
  11. ↑ 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.
  12. ↑ Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H (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.
  13. ↑ Beighton PH, Grahame R, Bird HA (2011). Hypermobility of Joints. Springer. p. 1. ISBN 978-1-84882-085-2. Archived from the original on 2017-11-05.
  14. ↑ 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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