Hypermobilt Ehlers-Danlos syndrome (2024)

AfrinLB. Some cases of hypermobile Ehlers-Danlos syndrome may have their origins in mast cell activation syndrome.Am J Med Genet C Semin Med Genet.2021;187:466-72. [PubMed: 34719842]

al-RawiZ, NessanAH. LED hypermobility in patients with chondromalacia patellae. Br. J. Rheumatol. 1997;36:1324-7. [PubMed: 9448595]

AlrifaiN, AlhuneafatL, JabriA, KhalidMU, TieliwaerdiX, SukhonF, HammadN, Al-AbdouhA, MhannaM, SirajA, SharmaT. Pregnancy and fetal outcomes in patients with Ehlers-Danlos syndrome: a nationally representative analysis.Curr Probl Cardiol.2023;48:101634. [PubMed: 36806636]

AsanadS, BayomiM, BrownD, BuzzardJ, LaiE, LingC, MiglaniT, MohammedT, TsaiJ, UddinO, SingmanE. Ehlers-Danlos syndromes and their manifestations in the visual system. 2022;9:996458. [PMC Free Article: PMC9552959] [PubMed: 36237549]

AsherSB, ChenR, KallishS. Mitral valve prolapse and aortic root dilatation in adults with hypermobile Ehlers-Danlos syndrome and related disorders.Am J Med Genet A.2018;176:1838-44. [PubMed: 30063091]

Baeza-Velasco C. Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders and Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet.2021;187:491-9. [PubMed: 34741402]

Beighton P , De Paepe A , Steinmann B , Tsipouras P , Wenstrup RJ . Ehlers-Danlos Syndrome: Herzine Nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (VS) and Ehlers-Danlos Support Group (VK). Am J Med Genet.1998; 77:31-7PubMed: 9557891]

Beighton P, Solomon L, Soskolne CL. Joint mobility in an African population. Ann Rheum Dis. [PMC Free Article: PMC1006136] [PubMed: 4751776]

BlackburnPR, XuZ, TumeltyKE, ZhaoRW, MonisWJ, HarrisKG, GassJM, CousinMA, BoczekNJ, MitkovMV, CappelMA, FrancomanoCA, ParisiJE, KleeEW, FaqeihE, AlkurayaFS, LayneMD, McDonnellNB, AtwalPS. Bi-allelic changes in AEBP1 lead to defective collagen assembly and connective tissue structure, resulting in a variant of Ehlers-Danlos syndrome. Am J Hum Genet. 2018;102:696-705. [PMC gratis artikel: PMC5985336] [PubMed: 29606302]

BrockI, PrendergastW, MaitlandA. Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.Am J Med Genet C Semin Med Genet.2021;187:473-81. [PubMed: 34747107]

BrooksRS, GradyJ, LowderTW, BlitshteynS. Incidence of gastrointestinal, cardiovascular, autonomic and allergic manifestations in hospitalized patients with Ehlers-Danlos syndrome: a case-control study. Rheumatology (Oxford). 2021;60:4272-80. [PubMed: 33410480]

BulbenaA, Baeza-VelascoC, Bulbena-CabréA, PailhezG, CritchleyH, ChopraP, Mallorquí-BagueN, FrankC, PorgesS. Psychiatric and psychological problems in Ehlers-Danlos syndrome Am J Med Genet C Semin Med Genet.2017;175:237-45. [PubMed: 28186381]

Bulbena-CabréA, Baeza-VelascoC, Rosado-FiguerolaS, BulbenaA. Updates on the psychological and psychiatric aspects of Ehlers-Danlos syndromes and hypermobility spectrum disorders.Am J Med Genet C Semin Med Genet.2021;187:482-90. [PubMed: 34806831]

BurlingF.Comparison of tetradecyl sulfate versus polidocanol injections for stabilization of frequently dislocating joints in an Ehlers-Danlos population.BMJ Open Sport Exerc Med.2019;5:e000481. [PMC free article: PMC6350757] [PubMed: 30792884]

CastoriM.Ehlers-Danlos syndrome(s) mimicking child abuse: is there an impact on clinical practice? Am J Med Genet C Semin Med Genet.2015;169:289-92. [PubMed: 26452443]

CastoriM, HakimA. Modern approach to joint hypermobility and related disorders.Curr Opin Pediatr.2017;29:640-9. [PubMed: 28906340]

CastoriM, TinkleB, LevyH, GrahameR, MalfaitF, HakimA.A framework for the classification of joint hypermobility and related disorders.Am J Med Genet C Semin Med Genet.2017;175:148-57. [PubMed: 28145606]

CheshireWPJr, GoldsteinDS. Autonomous uprising: the tilt table test in autonomic medicine. [PMC gratis artikel: PMC8897774] [PubMed: 30838497]

Hakim AJ, Tinkle BT, Francomano CA. Ehlers-Danlos syndromes, hypermobility spectrum disorders and associated comorbidities: reports from EDS ECHO.Am J Med Genet C Semin Med Genet.2021;187:413-5. [PubMed: 34793630]

HalversonCME, PenwellHL, FrancomanoCA. Physician-associated traumatization from difficult medical encounters: findings from a qualitative interview study of Ehlers-Danlos syndromes.SSM Qual Res Health.2023;3:100237. [PMC Free Article: PMC10328215] [PubMed: 37426705]

Hamonet C, Ducret L, Marie-Tanay C, Brock I. Dystonia in joint hypermobility syndrome, also known as Hypermobility type Ehlers-Danlos syndrome.SOJ Neurol.2016;3:1-3.

HendersonFCSr, AustinC, BenzelE, BologneseP, EllenbogenR, FrancomanoCA, IretonC, KlingeP, KobyM, LongD, PatelS, SingmanEL, VoermansNC. Neurological and spinal manifestations of Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. [PubMed: 28220607]

HomereA, BoliaIK, JuhanT, WeberAE, HatchGF. Surgical treatment of shoulder and knee instability in patients with Ehlers-Danlos syndrome: joint hypermobility syndrome. [PMC free article: PMC7449847] [PubMed: 32904109]

HuangSJ, AmendolaLM, SternenDL. Variation between consent forms from DNA banks: points that doctors can take advantage of.J Community Genet.2022;13:389-97. [PMC free article: PMC9314484] [PubMed: 35834113]

Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel A. Gynecological symptoms and the influence on reproductive life in 386 women with hypermobility type Ehlers-Danlos syndrome: a cohort study. [PMC free article: PMC5020453] [PubMed: 27619482]

IsselbacherEM, PreventzaO, Hamilton BlackJ3rd, AugoustidesJG, BeckAW, BolenMA, BravermanAC, BrayBE, Brown-ZimmermanMM, ChenEP, CollinsTJ, DeAndaAJr, FanolaCL, GirardiLN, HicksCW, HuiDS, Schuyler JonesW, KalahastiV, MilehastiV, KDM, OGSB. OMG, OMG Gyang RossE, SchermerhornML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ. 2022 ACC/AHA guideline for the diagnosis and treatment of aortic disease: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.Circulation.2022;146:e334-e482. [PMC free article: PMC9876736] [PubMed: 36322642]

Jesudas R, Chaudhury A, Laukaitis CM. An update of the new classification of Ehlers-Danlos syndrome and a review of the causes of bleeding in this population.Haemophilia.2019;25:558-66. [PubMed: 31329366]

KciukO, LiQ, HusztiE, McDermottCD. Pelvic floor symptoms in cisgender women with Ehlers-Danlos syndrome: an international survey study. Int Urogynecol J.2023;34:473-83. [PubMed: 35751670]

LamC, AmarasingheG, Zarate-LopezN, FikreeA, ByrneP, Kiani-AlikhanS, GabeS, PaineP. Gastrointestinal symptoms and nutritional problems in patients with hypermobility disorders: assessment, diagnosis and treatment.Frontline Gastroenterol.2022;14:68-77. [PMC free article: PMC9763642] [PubMed: 36561778]

LepperdingerU, ZschockeJ, Kapferer-SeebacherI.Oral manifestations of Ehlers-Danlos syndromes.Am J Med Genet C Semin Med Genet.2021;187:520-6. [PMC Free Article: PMC9298068] [PubMed: 34741498]

LevineNA, RigbyBR. Thoracic outlet syndrome: biomechanical and exercise considerations. 2018;6:68. [PMC free article: PMC6023437] [PubMed: 29921751]

MalfaitF, FrancomanoC, ByersP, BelmontJ, BerglundB, BlackJ, BloomL, BowenJM, BradyAF, BurrowsNP, CastoriM, CohenH, ColombiM, DemirdasS, De BackerJ, De PaepeA, Fournel-GigleuxS, FrankM, GhaliN, GiuntaC, HakimAe, HakimAe, JohnsonD, Juul-KristensenB, Kapferer-SeebacherI, KazkazH, KoshoT, LavalleeME, LevyH, Mendoza-LondonoR, PepinM, PopeFM, ReinsteinE, RobertL, RohrbachM, SandersL, SobeyGJ, Van DammeT, VandersteenA, van MourikC, WheeledonNsch, van MourikC, Wheele TinkleB. The 2017 International Classification of Ehlers-Danlos Syndromes.Am J Med Genet C Semin Med Genet.2017;175:8-26. [PubMed: 28306229]

MalhotraA, PaceA, Ruiz MayaT, ColmanR, GelbBD, MehtaL, KontorovichAR. Headache in hypermobility syndromes: pain in the neck? Ben J Med Genet A.2020;182:2902-8. [PubMed: 32940405]

MonacoA, ChoiD, UzunS, MaitlandA, RileyB. Association of mast cell-related disorders with hypermobile syndromes: a review of the literature.Immunol Res.2022;70:419-31. [PMC Free Article: PMC9022617] [PubMed: 35449490]

MorlinoS, MicaleL, RitelliM, RohrbachM, ZoppiN, VandersteenA, MackayS, AgoliniE, CocciadiferroD, SasakiE, MadeoA, FerrarisA, ReardonW, Di RoccoM, NovelliA, GrammaticoP, MalfaitF, MazzaT, HakimA, ColombiuntaC, Castor 1C, ColombiuntaC, Castor 1C, Colombiunt aC . : and new bindingevævssygdom, der incorporarer osteogenesis imperfecta/Ehlers-Danlos syndrome overlapping. Clin Genet.2020;97:396-406. [PubMed: 31794058]

NazemiA, ShapiroK, NagpalS, RosenblumN, BruckerBM. Pelvic organ prolapse in Ehlers-Danlos syndrome. Case rep Urol.2023;2023:6863711. [PMC Free Article: PMC9981282] [PubMed: 36875296]

PaceyV, ToftsL, AdamsRD, MunnsCF, NicholsonLL. Exercise in children with joint hypermobility syndrome and knee pain: a randomized controlled trial comparing hypermobile versus neutral knee extension exercises. Pediatr Rheumatol Online J.2013;11:30-40. [PMC free article: PMC3751568] [PubMed: 23941143]

PaigeSL, LechichKM, TierneyESS, CollinsRT2e. Cardiac involvement in classic or hypermobile Ehlers-Danlos syndrome is uncommon. Genet Med.2020;22:1583-8. [PubMed: 32518415]

PatelM, KhullarV. Urogynecology and Ehlers-Danlos syndrome. [PubMed: 34799982]

PearceG, BellL, PezaroS, ReinholdE. Fertility with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a large international study of outcomes and complications.Int J Environ Res Public Health.2023;20:6957. [PMC free article: PMC10606623] [PubMed: 37887695]

PezaroS, PearceG, ReinholdE. A clinical update on hypermobile Ehlers-Danlos syndrome during pregnancy, delivery and beyond. Br J Obstetrics.2021;29:492-500.

RashedER, Ruiz MayaT, BlackJ, FettigV, Kadian-DodovD, OlinJW, MehtaL, GelbBD, KontorovichAR. Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders. [PMC gratis artikel: PMC9677229] [PubMed: 35000503]

RomaM, MardenCL, De WandeleI, FrancomanoCA, RowePC. Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome. [PubMed: 29519641]

Sandmann W, Scholbach T, Verginis K. Surgical treatment of abdominal compression syndromes: the importance of hypermobility-related conditions. [PubMed: 34747562]

SantoreRF, GoseyGM, MuldoonMP, LongAA, HealeyRM. Assessment of hypermobility in 1,004 adult patients with hip pain: association with diagnoses and demographics. [PubMed: 32890043]

Schubart JR, Schaefer E, JanickiP, AdhikarySD, Schilling A, Hakim AJ, BascomR, FrancomanoCA, RajSR. Resistance to local anesthetics in individuals with Ehlers-Danlos syndrome presenting for dental surgery. [PMC free article: PMC6834718] [PubMed: 31723666]

SedkyK, GaislT, BennettDS. Prevalence of obstructive sleep apnea in joint hypermobility syndrome: a systematic review and meta-analysis. [PMC free article: PMC6374081] [PubMed: 30736885]

ShepertyckyMR, BannoK, KrygerMH. Gender differences in the clinical presentation of patients diagnosed with obstructive sleep apnea syndrome.Sleep.2005;28:309-14. [PubMed: 16173651]

SimmondsJV. Advances in the assessment of hypermobility-related conditions. Am J Med Genet C Semin Med Genet 2021;187:453-7. [PubMed: 34741798]

SymoensS, SyxD, MalfaitF, CallewaertB, De BackerJ, VanakkerO, CouckeP, De PaepeA. Extensive molecular analysis reveals type V collagen mutations in more than 90% of patients with classic EDS and allows refinement of diagnostic criteria. Hum Mutat.2012;33:1485-93. [PubMed: 22696272]

SyxD, De WandeleI, SymoensS, De RyckeR, HougrandO, VoermansN, De PaepeA, MalfaitF. Biallelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. [PubMed: 30668708]

TassanakijpanichN, McKenzie FJ, McLennanYA, MakhoulE, TassoneF, JasoliyaMJ, RomneyC, PetrasicIC, NapalingaK, BuchananCB, HagermanP, HagermanR, CasanovaEL. Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.J Med Genet.2022;59:687-90. [PMC free article: PMC8717836] [PubMed: 34193467]

ThwaitesPA, GibsonPR, BurgellRE. Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: what the gastroenterologist needs to know.J Gastroenterol Hepatol.2022;37:1693-709. [PMC free article: PMC9544979] [PubMed: 35750466]

ToftsLJ, SimmondsJ, SchwartzSB, RichheimerRM, O'ConnorC, EliasE, EngelbertR, ClearyK, TinkleBT, KlineAD, HakimAJ, van RossumMAJ, PaceyV. Pediatric joint hypermobility: a diagnostic framework and narrative review.Orphanet J Rare Dis.2023;18:104. [PMC free article: PMC10157984] [PubMed: 37143135]

WilliamsHR, WoodG, HakimAJ, BirchallM, HiraniSP. Self-reported neck symptoms in Ehlers-Danlos syndromes and hypermobility spectrum disorders: a cross-sectional study. Laryngoscope Research Otolaryngol.2023;8:1259-64. [PMC Free Article: PMC10601551] [PubMed: 37899864]

Willich L, Bohner L, Köppe J, Jackowski J, Hanisch M, Oelerich O. Incidence and quality of temporomandibular disorders, chronic pain and psychological problems in patients with classic and hypermobile Ehlers-Danlos syndrome: an exploratory study. 2023;18:294. [PMC free article: PMC10510186] [PubMed: 37726791]

ZingmanA, TuchmanK, Henderson FSr, FrancomanoCA. Patient-reported outcomes after terminal filum transection for the treatment of tethered cord syndrome associated with Ehlers-Danlos syndrome.Cureus.2022;14:e24679. [PMC Free Article: PMC9160501] [PubMed: 35663696]

Hypermobilt Ehlers-Danlos syndrome (2024)

FAQs

What does hypermobile Ehlers-Danlos syndrome do? ›

Hypermobile Ehlers-Danlos syndrome (hEDS) is characterized by generalized joint hypermobility, joint instability, pain, soft and hyperextensible skin with atrophic scars and easy bruising, dental crowding, abdominal hernias, pelvic organ prolapse, marfanoid body habitus, mitral valve prolapse, and aortic root ...

How does Ehlers-Danlos make you feel? ›

Hypermobile EDS

loose, unstable joints that dislocate easily. joint pain and clicking joints. extreme tiredness (fatigue) skin that bruises easily.

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Does hypermobile EDS get worse with age? ›

However, symptoms may become more severe as patients age and joints that have been dislocated multiple times become painful. Everyone's bones become weaker with age. In EDS patients with hypermobile joints, weakening bones can make the symptoms of the disease more severe as it progresses.

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What should people with EDS not do? ›

Patients with EDS also need to be careful in regards to soft tissue work. Deep tissue massage can cause bruising and strain, and they can heal slowly. I've had patients tell me too, that massage therapy is excruciating and painful and they can't recover from it.

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At what age is Ehlers-Danlos usually diagnosed? ›

Since Ehlers-Danlos Syndrome can be present at birth or shortly thereafter, it is not unusual for it to be diagnosed during a child's toddler years. This can be done by looking at their specific symptoms, family history, urine testing and skin biopsies.

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What is the life expectancy of hypermobile EDS? ›

Patients with the classical and hypermobility forms of Ehlers-Danlos syndrome have a normal life expectancy. About 80% of patients with vascular Ehlers-Danlos syndrome will experience a major health event by age 40 and the life expectancy is shortened, with an average age of death of 48 years.

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What is the physical appearance of someone with Ehlers-Danlos syndrome? ›

As a type of Ehlers-Danlos syndrome (EDS), vascular EDs (vEDS) is typified by a number of characteristic facial features (eg, large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears).

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What are surprising symptoms of EDS? ›

Here are 7 unexpected symptoms of EDS:

Extreme fatigue. Many EDS patients get tired doing next to nothing, taking days to recover from things that most of us are able to do without even thinking. ...
Gastrointestinal issues. ...
Foot problems. ...
Less wrinkles. ...
Inability to relax. ...
Dizzy or fainting-like spells.

Feb 5, 2024

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What can be mistaken for Ehlers-Danlos? ›

Patients with EDS, especially those with EDS hypermobility type, are often misdiagnosed with conditions such as fibromyalgia, chronic fatigue syndrome, or depression, given the overlap of symptoms and the psychosocial impact they have on the patient.

How does EDS affect hair? ›

Hair can be sparse on the scalp and body. It is usually light in colour, brittle, and slow to grow. It may be very fragile, curly, twisted and hard to manage. Body hair at puberty and beard growth in males may not be affected.

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Does EDS qualify for disability? ›

Your EDS disability claim will not be approved unless your insurance company is convinced that your condition precludes you from working your particular occupation. Many people with EDS need to avoid lifting, pushing and pulling, repeated bending and stretching, and staying in one position for long.

Can people with hypermobile EDS have kids? ›

Other studies that focused on 2 of the 3 most common EDS subtypes (hypermobility and classical) concluded that pregnancies involving women with those EDS subtypes do not have an increased risk of adverse pregnancy outcomes [3, 6, 9, 16].

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Does EDS affect weight? ›

Two illustrative case reports, in which JHS/EDS-HT manifestations contribute to developing and maintaining disturbed eating behaviors and significant weight loss, are presented.

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What foods should you avoid with EDS? ›

What foods should I avoid? Decrease your intake of foods and beverages containing processed sugar — such as pastries, bread, and soda or cola drinks. It's also important to decrease the amount of cholesterol and saturated fat that you take in, by reducing eggs, whole milk, cheese, and fried foods.

Why do people with EDS need salt? ›

An increase of salt will also cause vasoconstriction, helping to reduce the amount of venous pooling (extra blood that collects in the veins) in the legs, whilst also increasing your blood volume and preventing a drop in your blood pressure.

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What do EDS do to your body? ›

Ehlers Danlos syndrome (EDS) is a group of hereditary connective tissue disorders that manifests clinically with skin hyperelasticity, hypermobility of joints, atrophic scarring, and fragility of blood vessels.

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What problems does Ehlers Danlos cause? ›

For example, overly flexible joints can result in joint dislocations and early-onset arthritis. Fragile skin may develop prominent scarring. People who have vascular Ehlers-Danlos syndrome are at risk of often fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, also may rupture.

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Is hypermobile Ehlers Danlos a disability? ›

Yes, there is disability benefits available for people with Ehlers-Danlos Syndrome, but it is not always easy to qualify.

How severe is hypermobile Ehlers Danlos syndrome? ›

People with more of these symptoms may have hypermobile EDS, which is usually more severe than hypermobility spectrum disorders. Sometimes these conditions can cause more serious problems with your eyes, blood vessels, or heart.