EDS in Depth

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 Q&A about Ehlers-Danlos Syndrome

by Jan Groh, EDS patient & support group leader

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome (EDS) is a group of genetic collagen defects that affect a wide array of body systems, but most notably our joints in the form of subluxations (partial dislocations) and full dislocations and secondary arthritis. The word “syndrome” represents the myriad of seemingly unrelated symptoms this condition comprises. There are presently six main types recognized, though many new subtypes and mutations are discovered all the time.

What is the most common type of EDS and how is it diagnosed?

The most common is Type III- Hypermobility Type, or HEDS which can only be diagnosed clinically (by careful physical examination by a trained doctor) aided by a thorough family history. (The 5 more rare types have single tissue markers or blood tests available now). Type III EDS (Hypermobility Type) has been known variously in the past as Hypermobility Syndrome (HMS), Joint Hypermobility Syndrome (JHS) and Benign Joint Hypermobilty Syndrome (BJHS). The leading specialists including Drs. Grahame (UK)Keer (UK)Tinkle(US) and Bravo(CL) agree these should all just be called EDS III now. This article by Dr. Jaime Bravo of Chile describes when to suspect the diagnosis of Ehlers-Danlos type III, also called Joint Hypermobility Syndrome (JHS). (Posted with permission of Dr. Jaime S. Bravo, Luis Thayer Ojeda 0115, Santiago, Chile, December 2012).

What is hypermobility and how does it relate to EDS diagnosis?

People with EDS (all types) almost always have very flexible joints (so called “double-jointed” or “bendy” people), at least in childhood, although some are never very hypermobile or flexible, and others become much less so with age. Some rarer forms like Type IV Vascular can affect the vascular system and other organs or GI tract in very serious and even life-threatening ways, although people are managing to defy the odds every day. Some just hypermobile (flexible) people never experience symptoms either, so the 9 point Beighton hypermobility scale (developed by Peter Beighton) is not the only criteria for diagnosis. Hypermobility itself is just a trait, like red hair color. EDS is hypermobility plus symptoms. (You can actually score a 0 by age 50 on the Beighton hypermobility scale and still have HEDS (aka EDS III/HMS/JHS/BJHS). See the updated Brighton Diagnostic Criteria for more on this and seek out a knowledgeable medical geneticist or rheumatologist for proper diagnosis.

 

Wait a second… I am confused. My “collection of symptoms” match some descriptions of EDS, but not others. Also, my symptoms are milder than some descriptions I’ve read…


Can EDS symptoms run a “spectrum” from mild to severe, and it can affect multiple body systems?

Age and severity of onset vary quite widely from very mild (almost undetectable) to quite severe – from one individual to the next. Also, this genetic disorder can appear to skip a generation or a mutation can arise spontaneously, lending to the diagnostic confusion. Though some lucky people never have a major problem, all super-flexible people should take care and try to check so as to avoid any permanent injuries or dislocations over time. You can be fine one day, and then suddenly start to sublux or dislocate one or more joints more permanently, as well as developing arthritis in such loose joints. This is part of the reason it takes more than 10 years, on average, to be diagnosed…. since patients present with such a widely varying constellation of seemingly unrelated symptoms – everything from myopia to IBS, TMJ, hernias, migraines, low blood pressure, hemorrhoids and flat feet – until a doctor realizes the common collagen “thread” running through them all. EDS is often accompanied by symptoms of dysautonomia (low BP, poor temp regulation, Raynaud’s) to some degree, and may include POTS (postural orthostatic tachycardia syndrome) or NMH (neurally mediated hypotension),  poor temperature regulation or GI motility issues.  Due to the genetic nature of the disorder, you will often notice a family history in hindsight – if it wasn’t previously apparent.

 

Is there a cure for EDS?

Although there is currently no cure, it is extremely important to be diagnosed, so that the condition can be managed and precautions can be taken in certain situations. There are optimal treatments and therapies for mitigating the symptoms which will vary from person to person with a few common “themes”. Therapies may include: optimized nutrition, blood pressure control, careful isometric core-building PT customized to the individual (a program which avoids injury and strengthens loose joints), and pain management as needed. Always consult your doctor first to determine the right treatment for you. It is vital for EDS patients to stay as conditioned as possible at all times, while avoiding injury, which can be quite challenging.

 

Why the zebra mascot?

The zebra is our “rare disease” mascot, since it is said doctors are trained to “think of horses when they hear hoofbeats”…  “Horses” refer to the more common explanation or disease when hearing symptoms (hoofbeats).   A “zebra” would be the less expected other possibility (at least in the western US). We would like to reverse that thought process if possible.  In recent years, its been discovered that 95% of Ehlers-Danlos Syndrome (EDS) sufferers are still undiagnosed.  EDS experts no longer believe EDS is a rare disease, but the zebra has remained a popular representation.

 

Is Ehlers-Danlos Syndrome rare – or just rarely diagnosed? 

Only 5% of Ehlers-Danlos Syndrome (EDS) sufferers are correctly diagnosed*. It’s been estimated that EDS affects more than 1 in 5,000 people worldwide. But, experts think that’s conservative. Each year in the US, 650,000* additional sufferers are un-diagnosed or misdiagnosed due to physician oversight or lack of knowledge about EDS. (*Estimate is according to a study in the UK by Dr. Rodney Grahame.)

 

 

 

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Upcoming and Previous Webinar Speakers

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    Pradeep Chopra, MD
    “Management of complex pain in children and adults with EDS”

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    Pradeep Chopra, MD
    “EDS Pain Management – Connecting the DOTS… part 3”

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    Dr. Ajoy Sarkar
    “Ehlers-Danlos Syndrome Hypermobility Type in the UK: Missed or Just Misunderstood?”

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    Sara Williams, PhD
    “Biofeedback: Training your Body to Relax”

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    Jan Dommerholt, DPT
    “Physical Therapy for EDS – Part 2”
    Why does it hurt all of the time?

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    Markus-Frederik Bohn, PHD
    “Tenascin X and Ehlers-Danlos Syndrome”

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    Dr. Marco Castori

    “Multidisciplinary Diagnostic and Management Approach to the EDS Patient”

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    Professor Claude Hamonet and Dr. Isabelle Brock

    “A French Perspective on Ehlers Danlos”

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    Dr. Delia Chiaramonte

    “An Integrative Approach to Pain Management”

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    Dan Doherty — YouScript / Genelex Corp.

    “Pharmacogenetic Testing to Assess Altered Drug Metabolism”

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    Dr. Alan Pocinki

    “Psychiatric Misdiagnoses in EDS: When is Anxiety not Anxiety?”

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    Dr. William Ericson

    “Orthopedic Issues in the EDS Hand, Wrist and Arm”

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    Dr. Norman Marcus

    “EDS & Pain”

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    Dr. Lawrence Afrin

    “Mast Cell Activation Syndrome”

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    Diane O’Leary, PhD

    “All in Your Head”: The Problem of Psychogenic Diagnosis for Ehlers-Danlos Patients

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    John Ferman and Deanna Hamm

    “World-Wide EDS Survey Results” by EDS Awareness
    (2544 respondents from 26 countries)

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    Sara Williams, PhD

    “Cognitive Behavioral Therapy as a Coping Skill for EDS”

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    Dr. Anne Maitland

    “Mast Cell Activation Syndrome in EDS Patients (Part 2)”

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    Dr. Neil Schechter

    “Chronic Pain Hypermobile Children”

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    Karen Foulks, OTR/CHT
    Jesse Garris, Silver Ring Splint Co.

    “Anatomy and SilverRing™ Splints for Ehlers-Danlos Hands”

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    Dr. Holly Gilmer

    “Chiari Malformation in EDS”

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    Dr. Blair Grubb

    “Postural Orthostatic Tachycardia Syndrome (POTs)”

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    Trish Meegan, DPT, L, ATC

    “Physical Therapy for EDS: Including how your posture and thorax/ribcage affects your PT program”

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    Dr. Patrick Agnew

    “Soft Tissue Surgery in Collagen Disease (for EDS Feet & Ankles)”

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    Dr. Petra Klinge

    “Tethered Cord Syndrome in Ehlers-Danlos”

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    Kelly Clancy, OT

    “New and Emerging Manual Therapy Approaches for EDS”

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  • webinar-image

    Dr. Clive Bridgham

    “Chronic Pain Alternatives – with focus on inflammation and nutrition”

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  • webinar-image

    Kevin Muldowney, MSPT

    “Physical Therapy Protocol for Ehlers-Danlos Syndrome” (using the new EDS Physical Therapy Book)

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    Dr. Mitzi Murray

    “How, Why and When: Genetic Testing in EDS for the Non-Geneticist”

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    Ellen Lenox Smith

    “Living Life Again with Dignity Using Medical Marijuana”

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    Dr. Joan Stoler

    “Update on Complications and Rare Forms of EDS”

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    Jennifer Ortiz, MPT, WSC

    “Physical Therapy for Sexual Dysfunction in EDS”

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    John Ferman

    “Support Groups for Ehlers-Danlos Syndrome”

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    Dr. John Mitakides

    “Musculoskeletal Headaches in EDS”

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    Dr. Patrick Agnew

    “Foot & Ankle Issues with EDS”

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    Dr. Hal Dietz

    “Connective Tissue Disorder Research”

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    Dr. Theoharis Theoharides

    “Mast Cell Disorders”

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  • webinar-image

    Dr. Brad Tinkle

    “Introduction to Ehlers-Danlos Syndrome”

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    Dr. Ronald Jaekle

    “Ehlers-Danlos and Pregnancy”

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    Dr. Manu Sood

    “Gastrointestinal Disorders in EDS”

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    Dr. Forest Tennant

    “Managing Centralized Intractable Pain in Ehlers-Danlos”

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    Cynthia Allen, GCFP, STMI

    “The Feldenkrais Method”

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    Dr. Mark E. Lavallee

    “Exercise is Medicine”

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    John Ferman

    “Support Groups for Ehlers-Danlos Syndrome”

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    Dr. Howard R. Epps

    “Orthopaedic Considerations in EDS”

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    Jan Dommerholt, DPT

    “Physical Therapy for Ehlers-Danlos, Part 1”

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    Dr. Henry Burkholder

    “Postural Orthostatic Tachycardia Syndrome (POTs) and EDS”

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  • webinar-image

    Dr. Peter Byers

    “Vascular Ehlers-Danlos Syndrome / EDS type IV”

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  • webinar-image

    Subinoy Das, MD, FACS, FARS

    “Sinus Care for Ehlers-Danlos Syndrome”

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    Frank Gargano PT, DPT, OCS, CIDN, MCTA, CWT

    “Dry Needling for EDS Pain Management: Can muscle performance be improved?”

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    Diana Lebron, MD

    “Headaches and Ehlers-Danlos Syndrome”

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  • webinar-image

    Shweta Dhar, MD, MS, FACMG

    “Coordination of Care in Adults with EDS”

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    Kathleen Kane, ESQ

    “Applying for Disability”

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  • webinar-image

    Dr. Richard Barnum
    “EDS and Psychiatric Illness Misdiagnoses”

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    Dr. Anne Maitland
    “Mast Cell Activation Syndrome” Part 1

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    Dr. Alan Pocinki
    “Chronic Pain, Poor Sleep, Depression, and Fatigue in EDS”

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    Dr. Derek Neilson
    “Proving the obvious: Next Steps for the Demystification
    of the Ehlers-Danlos Hypermobility Type”

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  • webinar-image

    Dr. Peter Rowe
    “Managing Orthostatic Intolerance in EDS”

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    Prof Joel Lamoure, RPh., DD., FASCP
    “Medical Psychiatry in Pain Management”

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    Eric Palmer, Orthotist
    “Bracing for EDS”

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    Dr. John Mitakides
    “TMJ, Cervical Instability and EDS”

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    Dr. Staci Kallish
    “Cardiac Manifestations in EDS”

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  • webinar-image

    “EDS and Pain… Connecting the Dots” Part 2

    Pradeep Chopra, MD

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    Presenter: Kevin Muldowney, PT Click here for a link to the announcement page Video link is on this page

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    EDS Pain Management. (Part 1)
    Dr. Pradeep Chopra

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    Presenter: Michael, Healy, DPT Click here for a link to the announcement page  Video link is on this page

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    Presenter: Ellen Lenox Smith Click here for a link to the announcement page.  Video link is on this page

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        Presenter:  Carl Mentesana, DDS Click here for a link to the announcement page  Video link is on this page

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    Presenter: Stephanie Gandomi, MS Click here for a link to the announcement page. Video link is on this page

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  • webinar-image

    Dr. Kenneth Goldschneider
    Pain Management for EDS

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Current Poll

How long until you received a proper diagnosis for EDS?

  • >20 years (53%, 2,803 Votes)
  • 10-20 years (17%, 927 Votes)
  • 2-5 years (13%, 665 Votes)
  • 5-10 years (12%, 652 Votes)
  • 1 year (5%, 264 Votes)

Total Voters: 5,311

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