Research & Literature

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Colombi M, Dordoni C, Chiarelli N, Ritelli M

American journal of medical genetics. Part C, Seminars in medical genetics 2015; (169C(1)):6-22 doi:10.1002/ajmg.c.31429.

Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Baeza-Velasco C, Van den Bossche T, Grossin D, Hamonet C

Eating and weight disorders : EWD 2016; (21(2)):175-83 doi:10.1007/s40519-015-0232-x.

Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain.

Kumar B, Lenert P

The American journal of medicine 2017; (130(6)):640-647 doi:10.1016/j.amjmed.2017.02.013.

Measurement properties of clinical assessment methods for classifying generalized joint hypermobility-A systematic review.

Juul-Kristensen B, Schmedling K, Rombaut L, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(1)):116-147 doi:10.1002/ajmg.c.31540.

Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.

Ritter A, Atzinger C, Hays B, et al.

American journal of medical genetics. Part A 2017; (173(6)):1467-1472 doi:10.1002/ajmg.a.38243.

Hypermobility, the Ehlers-Danlos syndromes and chronic pain.

Syx D, De Wandele I, Rombaut L, Malfait F

Clinical and experimental rheumatology 2017; (35 Suppl 107(5)):116-122.

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Meester JAN, Verstraeten A, Schepers D, et al.

Annals of cardiothoracic surgery 2017; (6(6)):582-594 doi:10.21037/acs.2017.11.03.

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Zoppi N, Chiarelli N, Binetti S, et al.

Biochimica et biophysica acta. Molecular basis of disease 2018; (1864(4 Pt A)):1010-1023 doi:10.1016/j.bbadis.2018.01.005.

Development and validation of self-reported line drawings of the modified Beighton score for the assessment of generalised joint hypermobility.

Cooper DJ, Scammell BE, Batt ME, Palmer D

BMC medical research methodology 2018; (18(1)):11 doi:10.1186/s12874-017-0464-8.

Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.

Zoppi N, Chiarelli N, Ritelli M, Colombi M

International journal of molecular sciences 2018; (19(4)) doi:10.3390/ijms19040982.

Exercise and non-pharmacological treatment of POTS.

Fu Q, Levine BD

Autonomic neuroscience : basic & clinical 2018; (215()):20-27 doi:10.1016/j.autneu.2018.07.001.

Hypermobile Ehlers-Danlos syndrome and pregnancy.

Karthikeyan A, Venkat-Raman N

Obstetric medicine 2018; (11(3)):104-109 doi:10.1177/1753495X18754577.

Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review.

Peterson B, Coda A, Pacey V, Hawke F

Journal of foot and ankle research 2018; (11()):59 doi:10.1186/s13047-018-0302-1.

Anesthetic Management for Ehlers-Danlos Syndrome, Hypermobility Type Complicated by Local Anesthetic Allergy: A Case Report.

Cesare AE, Rafer LC, Myler CS, Brennan KB

The American journal of case reports 2019; (20()):39-42 doi:10.12659/AJCR.912799.

Pain in hypermobile Ehlers-Danlos syndrome: New insights using new criteria.

Bénistan K, Martinez V

American journal of medical genetics. Part A 2019; (179(7)):1226-1234 doi:10.1002/ajmg.a.61175.

Recognizing and Effectively Managing Hypermobility-Related Conditions.

Russek LN, Stott P, Simmonds J

Physical therapy 2019; (99(9)):1189-1200 doi:10.1093/ptj/pzz078.

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.

Ritelli M, Rovati C, Venturini M, et al.

Clinical genetics 2020; (97(2)):287-295 doi:10.1111/cge.13653.

Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review.

McGillis L, Mittal N, Santa Mina D, et al.

American journal of medical genetics. Part A 2020; (182(3)):484-492 doi:10.1002/ajmg.a.61459.

Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome.

Miller AJ, Stiles LE, Sheehan T, et al.

Autonomic neuroscience : basic & clinical 2020; (224()):102637 doi:10.1016/j.autneu.2020.102637.

Rome IV Functional Gastrointestinal Disorders and Health Impairment in Subjects With Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome.

Lam CY, Palsson OS, Whitehead WE, et al.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2021; (19(2)):277-287.e3 doi:10.1016/j.cgh.2020.02.034.

A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder.

Celletti C, Borsellino B, Castori M, et al.

Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace 2020; (90(2)) doi:10.4081/monaldi.2020.1286.

Cardiac involvement in classical or hypermobile Ehlers-Danlos syndrome is uncommon.

Paige SL, Lechich KM, Tierney ESS, Collins RT

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(10)):1583-1588 doi:10.1038/s41436-020-0856-8.

Validity of the self-reported five-part questionnaire as an assessment of generalized joint hypermobility in early pregnancy.

Schlager A, Ahlqvist K, Pingel R, et al.

BMC musculoskeletal disorders 2020; (21(1)):514 doi:10.1186/s12891-020-03524-7.

Pelvic Girdle Pain, Hypermobility Spectrum Disorder and Hypermobility-Type Ehlers-Danlos Syndrome: A Narrative Literature Review.

Ali A, Andrzejowski P, Kanakaris NK, Giannoudis PV

Journal of clinical medicine 2020; (9(12)) doi:10.3390/jcm9123992.

Prevalence of joint hypermobility syndromes in pediatric postural orthostatic tachycardia syndrome.

Boris JR, Bernadzikowski T

Autonomic neuroscience : basic & clinical 2021; (231()):102770 doi:10.1016/j.autneu.2020.102770.

Compression Garment Reduces Orthostatic Tachycardia and Symptoms in Patients With Postural Orthostatic Tachycardia Syndrome.

Bourne KM, Sheldon RS, Hall J, et al.

Journal of the American College of Cardiology 2021; (77(3)):285-296 doi:10.1016/j.jacc.2020.11.040.

Practical management strategies for benign hypermobility syndromes.

Minhas D

Current opinion in rheumatology 2021; (33(3)):249-254 doi:10.1097/BOR.0000000000000798.

Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.

Yew KS, Kamps-Schmitt KA, Borge R

American family physician 2021; (103(8)):481-492.

Multidisciplinary Treatment for Hypermobile Adolescents with Chronic Musculoskeletal Pain.

Van Meulenbroek T, Conijn AEA, Huijnen IPJ, et al.

Journal of rehabilitation medicine. Clinical communications 2020; (3()):1000033 doi:10.2340/20030711-1000033.

Chronic Low Back Pain Occurring in Association With Hypermobility Spectrum Disorder and Ehlers-Danlos Syndrome.

Eseonu KC, Payne K, Ward S, et al.

International journal of spine surgery 2021; (15(3)):449-457 doi:10.14444/8067.

Developing a self-management intervention to manage hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS): an analysis informed by behaviour change theory.

Bennett SE, Walsh N, Moss T, Palmer S

Disability and rehabilitation 2022; (44(18)):5231-5240 doi:10.1080/09638288.2021.1933618.

Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care.

Atwell K, Michael W, Dubey J, et al.

Journal of the American Board of Family Medicine : JABFM 2021; (34(4)):838-848 doi:10.3122/jabfm.2021.04.200374.

Dysautonomia in the Ehlers-Danlos syndromes and hypermobility spectrum disorders-With a focus on the postural tachycardia syndrome.

Mathias CJ, Owens A, Iodice V, Hakim A

American journal of medical genetics. Part C, Seminars in medical genetics 2021; (187(4)):510-519 doi:10.1002/ajmg.c.31951.

Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Rashed ER, Ruiz Maya T, Black J, et al.

Vascular medicine (London, England) 2022; (27(3)):283-289 doi:10.1177/1358863X211067566.

Muscle Strength, Muscle Mass and Physical Impairment in Women with hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorder.

Coussens M, Lapauw B, Banica T, et al.

Journal of musculoskeletal & neuronal interactions 2022; (22(1)):5-14.

Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.

Thwaites PA, Gibson PR, Burgell RE

Journal of gastroenterology and hepatology 2022; (37(9)):1693-1709 doi:10.1111/jgh.15927.

Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers-Danlos syndromes.

Igharo D, Thiel JC, Rolke R, et al.

European journal of neurology 2023; (30(3)):719-728 doi:10.1111/ene.15649.

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms.

Ritelli M, Chiarelli N, Cinquina V, et al.

Cells 2022; (11(24)) doi:10.3390/cells11244040.

The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome.

Junkiert-Czarnecka A, Pilarska-Deltow M, Bąk A, et al.

Postepy dermatologii i alergologii 2023; (40(1)):102-106 doi:10.5114/ada.2022.124107.

Pediatric joint hypermobility: a diagnostic framework and narrative review.

Tofts LJ, Simmonds J, Schwartz SB, et al.

Orphanet journal of rare diseases 2023; (18(1)):104 doi:10.1186/s13023-023-02717-2.

Physical therapy interventions in generalized hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome: a scoping review.

Garreth Brittain M, Flanagan S, Foreman L, Teran-Wodzinski P

Disability and rehabilitation 2024; (46(10)):1936-1953 doi:10.1080/09638288.2023.2216028.

Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.

Marelli S, Micaglio E, Taurino J, et al.

Diagnostics (Basel, Switzerland) 2023; (13(13)) doi:10.3390/diagnostics13132284.

Hypermobility spectrum disorders: A review.

Carroll MB

Rheumatology and immunology research 2023; (4(2)):60-68 doi:10.2478/rir-2023-0010.

Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center.

Ritelli M, Chiarelli N, Cinquina V, et al.

American journal of medical genetics. Part A 2024; (194(2)):174-194 doi:10.1002/ajmg.a.63426.

Childbearing with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Large International Survey of Outcomes and Complications.

Pearce G, Bell L, Pezaro S, Reinhold E

International journal of environmental research and public health 2023; (20(20)) doi:10.3390/ijerph20206957.

Cardiovascular Symptoms, Dysautonomia, and Quality of Life in Adult and Pediatric Patients with Hypermobile Ehlers-Danlos Syndrome: A Brief Review.

Hertel A, Black WR, Walton LM, et al.

Current cardiology reviews 2024; (20(1)):e240124226070 doi:10.2174/011573403X271096231203164216.

Functional neurological signs in hypermobile Ehlers-Danlos syndrome and hypermobile spectrum disorders with suspected neuropathic pain.

Fernandez A, Jaquet M, Aubry-Rozier B, et al.

Brain and behavior 2024; (14(2)):e3441 doi:10.1002/brb3.3441.

Assessment of gait mechanics and muscle strength in hypermobile Ehlers Danlos Syndrome.

Ball LN, Jacobs MV, McLouth CJ, et al.

Clinical biomechanics (Bristol, Avon) 2024; (113()):106210 doi:10.1016/j.clinbiomech.2024.106210.

Generalized Joint Hypermobility: A Statistical Analysis Identifies Non-Axial Involvement in Most Cases.

Lamari MM, Lamari NM, de Medeiros MP, et al.

Children (Basel, Switzerland) 2024; (11(3)) doi:10.3390/children11030344.

Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines.

Pezaro S, Brock I, Buckley M, et al.

PloS one 2024; (19(5)):e0302401 doi:10.1371/journal.pone.0302401.

Longitudinal echocardiography in pediatric patients with hypermobile Ehlers-Danlos syndrome.

Lahey H, Shin H, Myers K, McBride KL

American journal of medical genetics. Part A 2024; (194(12)):e63844 doi:10.1002/ajmg.a.63844.

Evidence for central sensitization as classified by the central sensitization inventory in patients with pain and hypermobility.

Desai MJ, Brestle M, Jonely H

Pain practice : the official journal of World Institute of Pain 2025; (25(1)):e13411 doi:10.1111/papr.13411.

The Effectiveness of Conservative Interventions on Pain, Function, and Quality of Life in Adults with Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders and Shoulder Symptoms: A Systematic Review.

Higo A, Palmer S, Liaghat B, et al.

Archives of rehabilitation research and clinical translation 2024; (6(3)):100360 doi:10.1016/j.arrct.2024.100360.

Cardiovascular, autonomic symptoms and quality of life in children with hypermobile Ehlers-Danlos syndrome.

Hertel AK, Black WR, Lytch A, et al.

SAGE open medicine 2024; (12()):20503121241287073 doi:10.1177/20503121241287073.

Exploring signs of central sensitization in adolescents with hypermobility Spectrum disorder or hypermobile Ehlers-Danlos syndrome.

Schubert-Hjalmarsson E, Fasth A, Ickmans K, et al.

European journal of pain (London, England) 2025; (29(1)):e4754 doi:10.1002/ejp.4754.

Hypermobile Ehlers Danlos for the Primary Care Provider.

White L, Procknow SS

Missouri medicine 2024; (121(4)):289-296.

Headache disorders in patients with Ehlers-Danlos syndromes and hypermobility spectrum disorders.

Mehta D, Simmonds L, Hakim AJ, Matharu M

Frontiers in neurology 2024; (15()):1460352 doi:10.3389/fneur.2024.1460352.

Ehlers-Danlos Syndromes and Related Disorders: Diagnostic Challenges and the Need for an Interdisciplinary Patient Care in Germany.

Kernich N, Peters F, Schreml J, et al.

Dermatology (Basel, Switzerland) 2025; (241(2)):124-132 doi:10.1159/000542026.

Similarities and differences in self-reported symptoms and comorbidities between hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Darakjian AA, Bhutani M, Fairweather D, et al.

Rheumatology advances in practice 2024; (8(4)):rkae134 doi:10.1093/rap/rkae134.

Adaptive Approaches to Exercise Rehabilitation for Postural Tachycardia Syndrome and Related Autonomic Disorders.

Ziaks L, Johnson K, Schiltz K, et al.

Archives of rehabilitation research and clinical translation 2024; (6(4)):100366 doi:10.1016/j.arrct.2024.100366.

HOPE for Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD)-A Pilot Randomised Controlled Trial of Feasibility, Acceptability and Appropriateness.

Chew MT, Ilhan E, Nicholson LL, et al.

European journal of pain (London, England) 2025; (29(6)):e70030 doi:10.1002/ejp.70030.

AGA Clinical Practice Update on GI Manifestations and Autonomic or Immune Dysfunction in Hypermobile Ehlers-Danlos Syndrome: Expert Review.

Aziz Q, Harris LA, Goodman BP, et al.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2025; (23(8)):1291-1302 doi:10.1016/j.cgh.2025.02.015.

Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.

Forghani I, See J, McGonigle WC

Genes 2025; (16(5)) doi:10.3390/genes16050530.

Abdominal Compression Syndromes in the Hypermobile Ehlers-Danlos Syndrome.

Milunsky A, Milunsky JM, Hsu R

American journal of medical genetics. Part A 2025; (197(12)):e64182 doi:10.1002/ajmg.a.64182.

Hypermobile Ehlers-Danlos Syndrome: Cerebrovascular, Autonomic and Neuropathic Features.

Novak P, Systrom DM, Marciano SP, et al.

American journal of medicine open 2025; (14()):100111 doi:10.1016/j.ajmo.2025.100111.

Localized and historical hypermobile spectrum disorders share self-reported symptoms and comorbidities with hEDS and HSD.

Fairweather D, Bruno KA, Darakjian AA, et al.

Frontiers in medicine 2025; (12()):1594796 doi:10.3389/fmed.2025.1594796.

KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome.

Gensemer C, Petrucci T, Beck T, et al.

iScience 2025; (28(9)):113343 doi:10.1016/j.isci.2025.113343.

Complex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysis.

Petrucci-Nelson T, Guilhaumou S, Berrandou TE, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.09.19.25336146.

Joint Hypermobility: An Under-Recognised Cause of Palpitations, Dizziness, and Syncope in Young Females.

Abu Orabi Z, Thompson SE, van Vliet J, et al.

Journal of clinical medicine 2025; (14(20)) doi:10.3390/jcm14207373.

Compression garments in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study.

Boulu X, Karam JD, Schmidt J

BMC musculoskeletal disorders 2025; (26(1)):1066 doi:10.1186/s12891-025-09318-z.

Generalized Joint Hypermobility in Adults: A Systematic Review With Meta-Analysis to Identify Data-Driven Cut-offs Using the Beighton Score.

Tofts L, Pacey V, Williams CM, et al.

Arthritis care & research 2026; (78(8)):987-997 doi:10.1002/acr.70017.

Outcomes and experiences of patients with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders undergoing surgical interventions: a scoping review.

Clark NL, Johnson M, Adamson J, et al.

Rheumatology international 2026; (46(1)):29 doi:10.1007/s00296-025-06062-4.

Prevalence of Intracranial and Cervical Artery Abnormalities in Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Presenting to an Academic Headache Clinic.

Rozen TD, Bruno KA, Rozen EM, et al.

Neurology international 2026; (18(2)) doi:10.3390/neurolint18020033.

The Investigation and Management of the Abdominopelvic Vascular Compression Syndromes in Patients with Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder.

Bruessel P, Govender M, Frahm-Jensen G

Vascular health and risk management 2026; (22()):592420 doi:10.2147/VHRM.S592420.

Multimodal Wearable and Survey Data Reveal Distinct Physiologic Profiles in Hypermobile-Ehlers Danlos Syndrome for Screening Advancements.

Wilson D, Shilling M, Nowak T, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.04.01.26349981.

2-Chloroprocaine vs. Lidocaine in a Patient With Hypermobile Ehlers-Danlos Syndrome and a History of Local Anesthetic Resistance: A Case Report.

Dasika J, Deutch ZB, Hoefnagel AL

Case reports in anesthesiology 2026; (2026()):8693646 doi:10.1155/cria/8693646.

Meta-Analysis: Chronic Gastrointestinal Symptoms and Comorbidities in Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.

Kulin D, Holtmann G, Fairlie T, et al.

Alimentary pharmacology & therapeutics 2026; (64(5)):574-589 doi:10.1111/apt.70856.

Postural Orthostatic Tachycardia Syndrome (POTS): A Review.

Chung TH, Raj SR

JAMA 2026; (336(13)):1149-1164 doi:10.1001/jama.2026.14809.

Headache in patients with joint hypermobility.

Oliveira WS, Hoffmann J, Jácomo AAE, et al.

Cephalalgia : an international journal of headache 2026; (46(8)):3331024261477381 doi:10.1177/03331024261477381.