And finally the brand new, first in 20 years Ehlers-Danlos Syndromes diagnostic criteria and
nosology are out here in full as of March 15, 2017. It was initially rumored they would only be freely available for 3 months (through June 2017), but they appear to still be as of January 2018. So possibly for the indefinite future? We can hope!
We are grateful to
The Ehlers-Danlos Society and The American Journal of Medical Genetics for making these available to this end. Help update all of our doctors by sharing this material!
That said, several of the older papers and links shown
below may now be outdated or obsolete, as I haven’t had time to comb through them all and update or annotate their links. (And I’m not responsible for the various sources.)
So please take some with a grain of salt accordingly and keep their
historical value in mind and kindly notify me of any completely broken or badly outdated ones here. I’ve been quite busy since this development as you can imagine, and have a lot of material to comb through and update. Thanks for your patience!
April 2019: The Ehlers-Danlos Society just launched a brand new Project EDS ECHO to help connect all practitioners with experienced colleagues.
May 2018: The Royal College of general Practitioners in London, England just launched their own brand new EDS Toolkit for GPs online too! (And I helped craft it.) It is also freely available to doctors worldwide, so please do share far and wide! By doctors, for doctors with latest info.
2017: EDS Awareness just launched a free online source of CMEs for doctors to learn about the new diagnostic criteria and category of HSDs too.
And I will now posit that the newly recognized (as of March 2017)
Hypermobility Spectrum Disorders are NOT RARE! Just RARELY DIAGNOSED! Hypermobile EDS went back to being “rare” again according to the doctors deciding the definitions – for now (2017).
And, if you feel able and willing, I’d deeply appreciate your support at any level
on Patreon or PayPal TY!
Find commonly comorbid
MCAD Resources here
Best Introductory Documents on Ehlers-Danlos Syndrome for Doctors and Patients
ER doctors should assume ALL patients have vascular EDS (vEDS) until proven fully otherwise!
via The Ehlers-Danlos Society March 2017 (this includes all 18 papers in the Am J of Med Genetics for now) 2017 EDS International Classification (lay person’s papers) 2018 2017 EDS International Classification via The EDS for non-experts via the The Ehlers-Danlos Syndromes GP Toolkit RCGP London, England May 2018 online via FREE Ehlers-Danlos Syndromes Physician CME Education EDS Awareness 2017 Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization. 2019 Pubmed Bascom R 1, Schubart JR 2, Mills S 1, 3, Smith T 3, Zukley LM 3, Francomano CA 3, 4, McDonnell N 3, 5 ER Safety Tips for Ehlers-Danlos Syndrome Patients – Ellen Lennox Smith via PNN 2017 Hypermobile Ehlers-Danlos Syndrome during pregnancy, birth and beyond Pezaro, Pearce, Reinhold April 2018 British Journal of Midwifery Handy March 2017 hypermobile Ehlers-Danlos Syndrome Diagnostic checklist for doctors New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases 2019 Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, […], and Olga Haus Dr. Linda Blustein discusses the Hypermobility Spectrum Disorders and EDS with Dr. Ferguson December 2018 (podcast) New 14th type of rare (AR) EDS discovered 2018: AEBP1 Application of immunotherapy for neurological manifestations in hypermobile Ehlers–Danlos syndrome 2018 Manabu Araki, Youwei Lin, […], and Takashi Yamamura A case of mosaic Ehlers-Danlos syndrome 2012 (mosaicism) Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print 2015 Hamonet, Fredy et al Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations – Castori et al 2012 Journal of Dermatology Ehlers-Danlos Syndrome Hypermobility type: A Much Neglected Multi-Systemic Disorder Gazit, Jacob & Grahame 2016 Rambam Ehlers-Danlos Syndrome and Hypermobility Spectrum Patient symposium NYIT 2017 via EDS Awareness Spontaneous Intracranial Hypotension: 10 Myths and Misperceptions 2018 Kranz, Gray, Amrhein Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome 2018 Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colom The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers–Danlos syndrome: the impact of proprioception – 2016 Scheper, Rombaut Cuadernos de Neuropsicología – Número Especial SED – Special Edition on EDS 2016 Dr. Jaime Bravo’s 2012 When To Suspect JHS (aka HMS/hEDS) document The Lack of Clinical Distinction Between the Hypermobility Type of Ehlers-Danlos Syndrome and the Joint Hypermobility Syndrome (a.k.a. Hypermobility Syndrome) Tinkle, Bird et al American Journal of Medical Genetics Part A 149A(11):2368-70 · November 2009 (Also available as an article on p 17 of Autumn 2010 EDNF Loose Connections ) Cranio-cervical Instability in Patients with Hypermobilty Connective Disorders – 2016 Henderson, Fraser MD Open Access Ehlers-Danlos Syndrome (EDS), an Hereditary, Frequent and Disabling Disease, Victim of Iatrogenia due to Widespread Ignorance Harmonet 2015 Differences in manifestation of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome 2017 Meester, Verstraeten, Loeys Ehlers-Danlos Syndrome or Disease? Hamonet et al 2015 Pain Management in Ehlers-Danlos Syndrome – Pradeep Chopra, MD 2015 EDNF pdf Pain in Ehlers-Danlos Syndrome is Common, Severe and Associated With Functional Impairment Voormens, Knoop et al 2010 JPMS Fibromyalgia – an unrecognized Ehlers-Danlos Syndrome Hypermobile Type? (in French) 2013 What is HMS/EDS Vascular Ehles-Danlos Syndrome via The EDS (ER’s assume vEDS until proven fully otherwise!) Vascular Ehlers-Danlos Syndrome via EDS Network C.A.R.E.S. Clinical and genetic aspects of Ehlers-Danlos Syndrome, classic type 2010 Joint hypermobility: emerging disease or illness behaviour? Rodney Grahame, MD Clinical Medicine 2013, Vol 13, No 6: s50-s52 Additional Useful Links for those with Chronic Illness (all kinds) Suggested Medical Workup for Patients Traveling to See an EDS Specialist (via TCAPP) Cranio-Cervical Instability (CCI) via The Pain Foundation Slide set on Collagen and Collagen Disorders by Dr. Achi Joshi Function of Collagens in Energy Metabolism and Metabolic Diseases 2014 G astrointestinal and Nutritional Issues in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type 2015 Castori et al Ehlers-Danlos Syndrome in Orthopaedics 2012 EDS and Anesthetics via The Reluctant Contortionist 2015 The Biology of Hernia Formation – Franz, MD 2008 Local Anesthetic Failure in Joint Hypermobility Syndrome 2005 Hakim, Grahame Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and Vascular Ehlers-Danlos Syndrome 2006 Bravo, Wolff (indicates a relatively high prevalence of HCTDs at up to 35% collectively) Tips from Kevin Muldowney on PT for Ehlers-Danlos patients Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type Chiareli, Carini et al 2016 PLOS ONE If You Can’t Connect The Issues, Think Connective Tissues – 2014 EDNF talk by Heidi Collins, MD Ehlers-Danlos Syndrome Hypermobility Type is Associated with Rheumatic Disease 2016 Rogers, Gui et al Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers–danlos syndrome, hypermobility type 2015, Castori, Morlino et al AJMG The Role of Collagen in the Eye – via CEDA (Canada EDS group) 2017 The EDS Learning Conference Info slides and videos from Las Vegas NEW All past EDNF and newer EDS Learning Conference slides 2012-present (2018) Collagen and Collagen Disorders via Dr. Achi Joshi Dislocation/Subluxation Management via The EDS- Jason Parry, Physio, London, England 2017 Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases – 2017 Rogers, Gui, Chu et al Scientific Reports Vascular phenotypes in the non-vascular subtypes of the Ehlers-Danlos syndrome: a systematic review 2017 D’hondt, Van Damme, Malfait The extracellular matrix glycoprotein tenascin-X regulates peripheral sensory and motor neurones. 2018 Aktar, Peiris, Fikree et al
Pain and Hypermobility Disorders of all kinds (HSD, EDS, etc.)
EDS Organizations and Physician Websites
Invisible Disabilities Organization (not EDS specific, but we fall under their umbrella) The Coalition Against Pediatric Pain (very EDS aware group)
Links to Fibromyalgia
Recovery Stories and Solutions
I’m including these stories from EDSers and others who have made partial or semi-full recoveries from their EDS and POTS onset “storms” or statuses via various means, and to show that there are some things you can do about it that will help to varying degrees. (I myself am proof of this – I’m back out of my wheelchair on high dose Vitaminc C, calcium, magnesium and zinc along with water therapy and cycling and the
Cusack Protocol. I still can’t walk far, but I did bike across the Golden Gate Bridge in July 2014 for the win!)
Vitamins and Minerals
Nutritional Information and Links
Vitamin C helps to lay in new collagen, and the more you have the better, faulty or not. However, those who are sensitive or allergic to corn will react to the most common form: ascorbic acid, which is corn based. Alternative forms include: Sago palm based, camu camu, rose hips, tart cherry juice and moringa leaves. And magnesium helps build smooth muscle fiber. See the following links for more relevant information to help rebuild:
Natural Whole Foods Vitamins (ascorbic acid is not vitamin C) Diet and Supplement Guidelines for EDS – Heidi Collins, MD Magnesium and Connective Tissue Senni, Foucault-Bertoud et al via John Libbey Eurotext March 2003 Nine types of magnesium explained by Dr. Eddy Betterman [PubMed] A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements – 2005 article on a nutritional approach to EDS Sandy Simmons Connective Tissue Disorders site – has lots of good nutritional support info for all forms of CTDs (EDS plus) Your Tendons on Cake 2015 James Crownover, MD (avoid sugar!) Idiopathic Postrandial Syndrome (often confused with hypgolycemia) vai Wikipedia Adrenergic Postrandial Syndrome (often confused with hypoglycemia too) Role of vitamins D, C and E in immunology and inflammation – 2013 Shaik-Dasthaqirisaheb YB, Varvara G, et al The relationship between disorders of K+ and Mg+ homeostasis 1987 Solomon Mechanism of Hypokalemia in Magnesium Deficiency 2007 Chou-Long Huang, Elizabeth Kuo JASN Errors in Potassium Measurement: A Laboratory Perspective for the Clinician 2013 Asirvatham, Moses, Bjornson Magnesium and potassium. Inter-relationships in cardiac disorders 1986 Wills MR Low magnesium levels make Vitamin D ineffective – Feb 2018 Science Daily An introduction to cortisol by Florence Neville, health coach
Links relating to the / Theory which may explain the “ RCCX Hypothesis Chronic Constellation” (my term) for so many major comorbidities with as yet unexplained hEDS/hypermobility
The RCCX Hypothesis (first posted February 2016 by Sharon Meglathery, MD) Joint Hypermobility: A Red Flag for Gene-Based Chronic Disease Cluster June 2017 McEvoy, M in Holistic Primary Care Hyper Joint Mobility, EDS, Collagen, Histamin & CIRS: Implications May 2017 McEvoy, M in Metabolic Healing Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia Chen, Perritt et al 2016 via Springer Broadening the Spectrum of Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia Morisette, Chen, Perritt et al 2015 Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome. 2018 Miller, Merke Links on Cranio-cervical instability, Chiari, Tethered cord and related issues
What is Craniocervical Instability? via the Pain Foundation Tethered Cord Syndrome How Cranio-cervical misalignment affects fluid flow – Dr. Rosa DC 2016 Ehlers-Danlos, POTS, and Occult Cerbrospinal Fluid Leak: A Case Report 2017 Aggarwal Stanford Tethered Cord Syndrome in Ehlers-Danlos – Diagnostic Criteria, Surgical Indication and Filum Pathology – Klinge, P. MD 2015 Conference slides How common is normal CSF pressure in spontaneious intracranial hypotension? (CSF leaks) 2015 Periventricular heterotopia: New Insights into Ehlers-Danlos Syndrome 2005 Ehlers-Danlos, POTS and a Headache Cured – via American Academy of Pain Medicine Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization 2019 Henderson, Francomano, Tuchman et al Signs and Symptoms of Atlas Subluxation Complex 2019 Grayson Blom, DC The Anatomy of the Atlas Subluxation by UpCSpine 2019 Undiagnosed Atlas Subluxation in Patient with Pain and Poor Myofascial Function 2019 Hartz, Sauer, Howe et al MD [VIDEO] Dr. Mandell’s Atlas technique – the Miracle Bone That Can Help Spinal Pain, Muscles, Body Organs – YouTube 2017 A Case Study of Severe CCJ Instability and a PICL Procedure 2019 Chris Centeno, MD Learning Patience: Eighteen Months of Spinal CSF Leak Recovery (great insight into life post blood patching for one patient)
Additional Misc Links
National Keratoconus Foundation Main medical characteristics of Loeys-Dietz syndrome About Mitochondrial Disease via Mito Action Celeste Cooper’s Site – A savvy RN with fibromyalgia The Spoon Theory (of energy management) by Christine Miserandino Handle With Care: Why Doctors Don’t Like the EDS Diagnosis Oct 2017 Jenrose The collαgen III fibril has a “flexi-rod” structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles 2017 Parkin, San Antonio, Savage et al Interview with Dr. Claude Hamonet by the L’yonne Republicaine 2019 How to Get on Social Security Disability for Ehlers Danlos Syndrome via Sleepy Girl Guide Study Finds 40% False Positives in Direct-To-Consumer Genetic Tests – 2018 Ryan Black [PubMed] A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements – 2005 article on a nutritional approach to EDS Down with the Pastryarchy – a site to support those with Celiac Disease and Gluten Sensitivity Shoulder Support Tricks – from a patient blog A New Disease Cluster: Mast Cell Activation Syndrome, Postural Orthostatic Tachycardia Syndrome, and Ehlers-Danlos Syndrome 2015 Pseudo-psychiatric symptoms in EDS patients via Dr. Pocinki EDNF Conf 2013 Leaky Gut, What It Is and What To Do About It (a common EDS comorbidity) Dr. Doni Job Accommodation Network new EDS guidelines for the workplace Dr. Nancy Mullan’s articles on MTHFR and the Methylation cycle Children with Ehlers-Danlos Syndrome and Airway Dysfunction ACR 2011 Ehlers-Danlos Syndrome: The Role of Collagen in the Eye via EDNF Dr Diana Driscoll Interview on POTS/MCAS and more 2016 A study of migraine characteristics in hypermobility syndrome a.k.a. Ehlers-Danlos Syndrome, hypermobility type Puledda, Vigano et al Neurological Sciences 36(8) · March 2015 Tenascin-X, Collagen and Ehlers-Danlos Syndrome 2013 Medical Assistance Ultimate Directory by 3WithADHD blog (not EDS specific but still helpful!) Synthesis and secretion of collagen by cells of connective tissue, bone and dentin 1989 The Empowered Patient: Ways You Can Get The Most From Your Medical Team EDNF 2014 Learning Conference presentation (Butler-Pierce, Weber) Why You Must Not Stretch Hypermobile Clients – The PTDC Joint mobility and Ehlers-Danlos syndrome (EDS), new data based on 232 cases, Harmonet et al France 2015 (shows more arguments against using Beighton 9 pt scale) 32 Ways to Stimulate Your Vagus Nerve And All You Need To Know About It via LifeHacks (affects much more than you might expect, check it out if haven’t) Dermal ultrastructure in low Beighton score members of 17 families with hypermobile-type Ehlers-Danlos syndrome. Hermanns-Lê T, et al. J Biomed Biotechnol. 2012. The association between Ehlers-Danlos syndrome – hypermobility type and gastrointestinal symptoms in university students: a cross-sectional study 2016 Fikree A et al. NIH Scientists uncovering genetic explanation for frustrating syndrome Oct 2016 One Gene Mutation Links Three Mysterious, Debilitating Diseases 2016 (Mental Floss) NIH FAQ’s page about the Familial Tryptasemia study results (directly above) 2016 Miss Diagnoses – a funny blog by a chronically ill woman who has many common EDS comorbidities (and whom I suspect!) Ehlers-Danlos Syndrome: More Than Just Stretchy Skin or Bendy Joints US News Wellness November 2016 Complex Decongestive Physiotherapy (CDPT) – for lipo-lymphedema (google lipedema and or lipoedema – a common comorbidity we’re finding) Understanding Lipedema – a fat storage disorder, via Dr. David Amron, liposurgeon When it’s not just fat: discovering lipedema in women via NPR 2016 Hall of Care – resource site for lipedema and other bariatric and mobility impaired patients Asthma and airways collapse in two heritable disorders of connective tissue – 2007 Morgan, Pearson et al Cystic kidneys associated with connective tissue disorders – 1997 Am J Med Gen Periodic Paralysis – a Journey Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing. 2014 – Cimolin, Galli et al (IOW: yes, you may have really high arches with EDS!) Ehlers-Danlos is associated with acute pancreatitis 1989 Sarra-Carbonell, Jiminez Recent studies of genetic dysfunction in pelvic organ prolapse: the role of collagen defects 2014 Lim, Khoo, Wong et al Pelvic organ prolapse and collagen-associated disorders 2012 Lammers, Lince et al Joint hypermobility, obstetrical outcomes, and pelvic floor disorders 2013 PubMed Leise R. Knoepp, Kelly C. McDermott, […], and Victoria L. Handa Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print 2016 Hamonet, Fredy, LeFevre et al People Who Are Double-Jointed Are More Likely to Be Anxious 2015 – Scientific American Targeted Deletion of Collagen V in Tendons and Ligaments Results in a Classic Ehlers-Danlos Syndrome Joint Phenotype 2015 Mei Sun, Brianne K. Connizzo, […], and David E. Birk Meet Your Insterstitium, a Newfound “Organ” March 2018 Scientific American
A precious spoon!