KEY LITERATURE

 

Hakim, et al. 2017: Cardiovascular and autonomic Dysfunction in hEDS:  https://www.ehlers-danlos.com/wp-content/uploads/2022/03/Hakim_et_al-2017-American_Journal_of_Medical_Genetics_Part_C-_Seminars_in_Medical_Genetics.pdfAutonomic dysfunction in EDS and HSD, Am J Med Genet Part C

 

Dysautonomia, GI, Sleep and Urogynaecology

• Guilleminault C, et al. Sleep-disordered breathing in Ehlers-Danlos syndrome: a genetic model of OSA. Chest. 2013;144(5):1503–1511: https://pubmed.ncbi.nlm.nih.gov/23929538/
• Prevalence and Predictors of Gastrointestinal Dysmotility in Patients with Hypermobile Ehlers-Danlos Syndrome. 2020: https://pubmed.ncbi.nlm.nih.gov/32489735/
• Patel N, et al. Urogynaecology and Ehlers–Danlos syndrome. Am J Med Genet C. 2021.Access via Wiley: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31959
• Lower urinary tract involvement in Ehlers-Danlos and Joint Hypermobility syndromes: review of the literature. 2024: https://pubmed.ncbi.nlm.nih.gov/39033997/
• Khullar V, et al. Urinalysis is not a good test for urine tract infection in women with hypermobile EDS [ICS 2019 abstract 596]: https://www.ics.org/2019/abstract/596
• Mathias CJ, et al. Dysautonomia in the Ehlers–Danlos syndromes and hypermobility spectrum disorders. Am J Med Genet C. 2021: https://pubmed.ncbi.nlm.nih.gov/34766441/

 

POTS, Chronic LUTS, Fibromyalgia and Autism

• Skin Biopsy and QSART in Patients With Postural Orthostatic Tachycardia Syndrome (33% reduced sweat output). Cureus, 2022: https://pubmed.ncbi.nlm.nih.gov/36349067/
• Recalcitrant chronic bladder pain and recurrent cystitis but negative urinalysis: what should we do? (n=624): https://pubmed.ncbi.nlm.nih.gov/29556674/
• Cross-over data supporting long-term antibiotic treatment in patients with painful LUTS, pyuria and negative urinalysis: https://pubmed.ncbi.nlm.nih.gov/30564872/
• Galosi E, Truini A, Di Stefano G. A Systematic Review and Meta-Analysis of the Prevalence of Small Fibre Impairment in Patients with Fibromyalgia. Diagnostics, 2022: https://pubmed.ncbi.nlm.nih.gov/35626288/
• Reduced heart rate variability in adults with autism spectrum disorder. Autism Res. 2019: https://pubmed.ncbi.nlm.nih.gov/30972967/
• Cheshire WP. Thermoregulatory disorders and illness related to heat and cold stress. Auton Neurosci. 2016: https://pubmed.ncbi.nlm.nih.gov/26794588/

 

SENSORY & PROPRIOCEPTIVE  OVERLAP

• Proprioceptive precision is impaired in Ehlers-Danlos syndrome Clayton HA, Jones SAH, Henriques DYP: https://pubmed.ncbi.nlm.nih.gov/26180743/
• The effects of joint hypermobility on strength, proprioception and functional performance. Scientific Reports, 2025: https://pubmed.ncbi.nlm.nih.gov/41254022/
• Ataxic sensory neuropathy and dorsal root ganglionitis associated with Sjögren's syndrome:  Griffin JW et al., Annals of Neurology, 1990;27(3):304–315: https://pubmed.ncbi.nlm.nih.gov/2327738/
• Cafaro G, et al. Peripheral Nervous System Involvement in Sjögren’s Syndrome: Analysis of a Cohort From the Italian Research Group on Sjögren’s Syndrome. Front Immunol. 2021;12:615656: https://pubmed.ncbi.nlm.nih.gov/33841398/
• Neurological complications of Sjögren’s syndrome: diagnosis and management — review, PMC6322693: https://pubmed.ncbi.nlm.nih.gov/33841398/

 

SPINAL COMPLICATIONS IN EDS

• Hauser, R.A., Griffiths, M., Watterson, A., Matias, D., Rawlings, B.R. “Characterizing Initial Cervical Spine and Neurovascular Findings in 84 Consecutive Patients with Hypermobile Ehlers–Danlos Syndrome: A Retrospective Study.” J. Clin. Med. 2026, 15(6), 2212. https://www.mdpi.com/2077-0383/15/6/2212
• Silver, K., Meredith, T., et al. “Cervical Angina: An Often Overlooked Cause of Noncardiac Chest Pain. JBJS Rev. 2026: https://pubmed.ncbi.nlm.nih.gov/41723867/
• Mashauri, H.L., Makunga, F.J., Luhwago, E.C., Ndale, E., Kilonzo, K.G. “Is it myocardial infarction? A case report of C7 cervical radiculopathy with cervical angina.” SAGE Open Med Case Rep. 2024: https://pubmed.ncbi.nlm.nih.gov/38187813/
• Chu, E. et al. “Cervical Radiculopathy as a Hidden Cause of Angina: Cervicogenic Angina.” J Med Cases. 2022: https://pubmed.ncbi.nlm.nih.gov/36506762/
• Tassabehji, M., Fang, Z.M., Hilton, E.N., et al. “Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.” Hum Mutat. 2008;29(8):1017-27. PMID: 18425797: https://pubmed.ncbi.nlm.nih.gov/18425797/
• Fabrice Gillas,1 Ahmed Mekki,2 Malika Foy,1 Robert Carlier,2,3 *Karelle Benistan: 'Prevalence of Scoliosis in Hypermobile Ehlers-Danlos Syndrome.” EMJ: https://www.emjreviews.com/rheumatology/article/prevalence-of-scoliosis-in-hypermobile-ehlers-danlos-syndrome-j190221/
• Karol, L. & Elerson, E. “Scoliosis in patients with Charcot-Marie-Tooth disease.” J Bone Joint Surg Br. 2005;87-B(Suppl III):296-297: https://pubmed.ncbi.nlm.nih.gov/17606789/
• Horacek, O. et al. “Spinal deformity in Charcot-Marie-Tooth disease.” Spine. 1994: https://pubmed.ncbi.nlm.nih.gov/8029739/
• Malfait, F., Francomano, C., Byers, P., et al. “The 2017 International Classification of the Ehlers-Danlos Syndromes.” Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. PMID: 28306229: https://pubmed.ncbi.nlm.nih.gov/28306229/
• Ehlers-Danlos Society. “2017 EDS International Classification” (diagnostic criteria document, including Beighton age cutoffs and Five-Point Questionnaire): https://www.ehlers-danlos.com/2017-eds-international-classification/
• Hakim, A. “The Ehlers-Danlos syndromes.” GeneReviews, University of Washington, Seattle, updated 2021: https://www.ncbi.nlm.nih.gov/books/NBK1279/
• Iyer, S. & Kim, H.J. “Cervical radiculopathy.” Curr Rev Musculoskelet Med. 2016;9(3):272-280: https://pubmed.ncbi.nlm.nih.gov/27250042/
• Henderson, et al. 2017: Neurological and Spinal Manifestations in EDS:  https://www.ehlers-danlos.com/wp-content/uploads/2022/03/Henderson_et_al-2017-American_Journal_of_Medical_Genetics_Part_C-_Seminars_in_Medical_Genetics.pdf— Neurological and spinal manifestations, Am J Med Genet Part C

 

NEURODIVERSITY IN EDS

• Baeza-Velasco, C., Vergne, J., Poli, M., Kalisch, L., & Calati, R. “Autism in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes: A systematic review and prevalence meta-analyses.” Autism, 29(8), 1939–1958, 2025: https://journals.sagepub.com/doi/10.1177/13623613251328059
• Petrucci-Nelson, T., Guilhaumou, S., Berrandou, T.E., et al. “Complex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysis.” medRxiv preprint, 2025: https://www.medrxiv.org/content/10.1101/2025.09.19.25336146v1
• The Ehlers-Danlos Society. “Autism Acceptance Month.” Patient-facing awareness materials, not a peer-reviewed source: https://www.ehlers-danlos.com/autism-acceptance-month/
• Mayo Clinic Connect. “EDS and POTS.” Patient-community forum post, not a peer-reviewed source: https://connect.mayoclinic.org/blog/ehlers-danlos-syndrome/newsfeed-post/eds-and-pots/
• Jones, J.T., Black, W.R., Moser, C.N., Rush, E.T., & Malloy Walton, L. “Gender dysphoria in adolescents with Ehlers–Danlos syndrome.” SAGE Open Medicine, 2022: https://journals.sagepub.com/doi/10.1177/20503121221146074
• Stein, T., Collins, S., & St. Louis, J. “The prevalence of hypermobile Ehlers–Danlos syndrome at a gender-affirming primary care clinic.” SAGE Open Medicine, 2025: https://journals.sagepub.com/doi/10.1177/20503121221146074
• Jones, J.T., Black, W.R., Moser, C.N., Rush, E.T., & Malloy Walton, L. “Gender dysphoria in adolescents with Ehlers–Danlos syndrome.” SAGE Open Medicine, 2022: https://journals.sagepub.com/doi/10.1177/20503121221146074
• Boris, J.R., McClain, Z.B.R., & Bernadzikowski, T. “Clinical Course of Transgender Adolescents with Complicated Postural Orthostatic Tachycardia Syndrome Undergoing Hormonal Therapy in Gender Transition: A Case Series.” Transgender Health, 2019: https://pubmed.ncbi.nlm.nih.gov/31754630/

 

 SJÖGREN'S & FIBROMYALGIA IN hEDS

• DICE Registry / hEDS comorbidity study (505 participants): Halverson CME, et al “Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome.” Genet Med Open. 2023: https://www.gimopen.org/article/S2949-7744(23)00821-X/fulltext
• Complement protein reductions in hEDS (2025): Griggs M, Daylor V, Gensemer C, et al. “Proteomic discoveries in hypermobile Ehlers-Danlos syndrome reveal insights into disease pathophysiology.” ImmunoHorizons. 2025;9(10):vlaf044: https://academic.oup.com/immunohorizons/article/9/10/vlaf044/8256436
• HLA-B27 prevalence in hEDS (2017): Ting M, et al. “Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases.” Sci Rep. 2017;7:39636: https://www.nature.com/articles/srep39636
• hEDS/HSD and fibromyalgia clinic overlap (56.5%, 2023): EDS-clinic cohort study, 2023 (clinic-selected population, not a general fibromyalgia sample).: https://pubmed.ncbi.nlm.nih.gov/37181352/
• Small fibre neuropathy in Sjögren's (~40%): Small fibre neuropathy prevalence in Sjögren's syndrome cohort studies: https://www.ovid.com/jnls/md-journal/abstract/10.1097/md.0000000000000005~sjgren-syndrome-associated-small-fiber-neuropathy?redirectionsource=fulltextview
• Reduced nerve fibre density in fibromyalgia (~50%): Skin biopsy studies of small fibre pathology in fibromyalgia patients: https://www.sciencedirect.com/science/article/pii/S1526590023004868

 

MCAS, SIBO & OXALATES

•  Low K, Hwang L, Hua J, Zhu A, Morales W, Pimentel M. “A combination of rifaximin and neomycin is most effective in treating irritable bowel syndrome patients with methane on lactulose breath test.” J Clin Gastroenterol. 2010;44(8):547-550: https://pubmed.ncbi.nlm.nih.gov/19996983/
• Yang HJ, et al. “Prucalopride in the treatment of chronic constipation in patients from the Asia-Pacific region: a randomized, double-blind, placebo-controlled study.” Neurogastroenterol Motil. 2014.
• Tansel A, Levinthal DJ. “Understanding Our Tests: Hydrogen-Methane Breath Testing to Diagnose Small Intestinal Bacterial Overgrowth.” Clin Transl Gastroenterol. 2023;14(4):e00567: https://www.ovid.com/jnls/ctg/fulltext/10.14309/ctg.0000000000000567~understanding-our-tests-hydrogen-methane-breath-testing-to
• “Diamine oxidase deficiency implications for health, current management, and future directions in the treatment of histamine intolerance: A review.” 2025: https://pubmed.ncbi.nlm.nih.gov/40865824/
• Chai W, Liebman M. “Effect of Different Cooking Methods on Vegetable Oxalate Content.” J Agric Food Chem. 2005;53(8):3027-3030: https://pubs.acs.org/jafcau/article-abstract/53/8/3027/3558199/Effect-of-Different-Cooking-Methods-on-Vegetable?redirectedFrom=fulltext