Guide to Ehlers-Danlos Syndrome


This blog focuses on my personal experience of living with chronic illness rather than on providing detailed information on the diseases themselves, so this is just a short guide to Ehlers-Danlos Syndrome (hypermobile type) which I hope you will find useful.

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome (EDS) is a collagen disease due to faulty genes.  You are born with EDS and most cases are inherited from a parent, though spontaneous cases of gene mutation can also occur where there is no family history.

There are several types of EDS.  The most common is the Hypermobile form, or HEDS for short, and this page focuses on HEDS as this is the type of EDS I have.

What is collagen and what does it do?

Collagen is the main structural protein found in connective tissue.  We have connective tissue all over our bodies and it literally holds us together.  Collagen is found in bones, skin, blood vessels, muscles and tendons where it provides a scaffold to give strength and structure, but also elasticity to allow us to move.  It also plays a role in the replacement of dead skin cells.

Joint Hypermobility v Ehlers-Danlos Syndrome

Between 5-20% of the population are hypermobile (which used to be called being “double jointed”), ie have joints which are very flexible and bendy.  It causes them no problems and people are simply classed as being “hypermobile”.

“Benign Joint Hypermobility Sydrome” (JHS) is where you are hypermobile but it’s causing you pain and fatigue.

“Ehlers-Danlos Syndrome” is where you are hypermobile, it’s causing you pain and fatigue but you also have a wide range of other symptoms (see below).

It used to be thought that JHS and EDS were different diseases, however it’s now thought that they are probably different spectrums of the same illness.

Symptoms of HEDS

Some of the most common symptoms are:

  • Hypermobile joints.
  • Joint pain and/or stiffness.
  • Frequent strains and sprains.
  • Joints which sublux (partially dislocate but pop back in on their own) or dislocate (fully come out of their socket and need manipulation to go back in).
  • Chronic fatigue.
  • Skin problems: thin, fragile skin which tears easily, may be prone to infection and is slow to heal.  Skin which bruises easily or for no apparent reason.  Stretch marks.  Skin which is stretchier than normal.
  • Varicose veins.
  • Low blood pressure.
  • Eye problems: thin blue sclera, floaters, astigmatism.  Increased possibility of retinal detachment.
  • Dental problems: high roof arch which causes overcrowded teeth.  Weak enamel prone to cavities.  Early gum recession.  Mouth ulcers.  TMJ (a painful jaw joint disorder).
  • Swallowing difficulties.
  • Hiatus hernia and/or GERD (acid reflux).
  • A wide range of stomach and bowel problems including chronic nausea, feeling full after eating only a small amount of food, chronic constipation, diverticulitis, piles, Gastroparesis (slow food transit).  Increased possibility of tears in the bowel wall or anus.
  • Having ‘knock knees’.
  • Various foot problems: bunions, flat feet, plantar fasciitis.
  • Having a ‘pigeon chest’  (pectus carinatum) or a ‘stoved in chest’ (pectus excavatum).
  • Migraine.
  • Dysautonomia, ie various problems with the central nervous system which affect balance, blood pressure, heart rate and body temperature regulation resulting in POTS, dizziness, palpitations, feelings of anxiety for no reason, feeling faint or fainting.
  • Mitral valve prolapse (a heart problem).
  • Gynaecological problems: uterine prolapse, severe period pains, pregnancy complications.
  • Tendonitis (inflamed painful tendons).
  • Bursitis (inflamed fluid around the joints).
  • ‘Brain fog’.
  • Being clumsy and banging into objects (poor proprioception).
  • Low bone density which can lead to early osteoporosis.
  • And let’s not forget than an estimated 1 in 10 people with EDS also have Mast Cell Disease!

You don’t have to have all these symptoms to have HEDS and people differ from each other in the severity of their symptoms, even within families.

Please see the following blog posts for photos of some of my symptoms:

How is EDS Diagnosed?

Most types of EDS have a genetic test.  HEDS, however, does not and the gene test for Classical EDS doesn’t pick up all cases.

HEDS is diagnosed, usually by a Rheumatologist, based on symptoms and history and by using the ‘Beighton Scale‘ and ‘Brighton Criteria‘.  However, the Beighton Scale only looks at a small range of joints instead of all joints so is considered out of date and new criteria are desperately needed.  If my Consultant had only looked at the joints on the Beighton Scale I would never have been diagnosed, because my affected joints aren’t listed!

Finding a Rheumatologist with good knowledge of EDS can be difficult.  It’s classed as a “rare” disease and not much is taught about it in medical school.  However, it’s now widely recognized that EDS is much more common than anyone realizes and it’s simply not being diagnosed enough.

Treating EDS

There is no cure for EDS and any treatment focuses on managing the disease, although some sufferers will need acute services, eg. surgery or gastroenterology, from time to time.

Because EDS covers every area of the body, and every medical discipline, what is really needed are specialist centres or clinics where care can be co-ordinated.  There is only 1 such unit in the whole of the UK and it’s in London at UCLH, so unless you live there you’re scuppered.  They do have a 2 week inpatient unit, but afterwards you’re sent back to where you live with no follow-through.  Many people with EDS therefore find they are just left to get on with it, or see Consultant after Consultant with no specialist knowledge of EDS.   No-one joins the dots or looks at the disease as a whole which can be highly frustrating!

At the very least people diagnosed with EDS should:

  • Have a 3 yearly bone density (DEXA) scan (adults of both sexes and all ages, not just females after menopause).
  • Have a heart scan to check for Mitral Valve Prolapse.
  • Visit the dentist every 3-6 months and have regular X-rays.
  • Visit the optician every year and have retinal X-rays.

The types of medical professionals most often seen by EDS patients are:

  • Physiotherapists
    Most people after being diagnosed are passed on to physiotherapists to be managed.  It is very important to find a physio with specialist knowledge of EDS.  Exercises given to ‘normal’ people can actually be harmful to anyone with EDS.  Gentle hydrotherapy can be useful, as can Pilates and Thai Chi.
  • Occupational Therapists
    Can be helpful in arranging home adaptations, compression gloves and finger/ring splints.
  • Podiatrists
    Can provide shoe insoles.
  • Orthotics
    Can provide braces and supports for our joints.
  • We may also need wheelchair services.
  • Gastroenterology
    For reflux, hernias, stomach and bowel problems.
  • We may also need referral to specialists in the autonomic nervous system field to be tested for dyautonomia/POTS.

I personally have also seen an Oral Surgeon for problems with my jaw joints, a Gynaecologist for problems with my periods, a Neurologist for migraine and Orthopaedics for spinal surgery.  Most people with EDS are, sadly, intimately acquainted with the NHS!

Information Leaflet

EDS can be difficult to explain, so I put together a little leaflet to hand out to anyone who seems remotely interested in the disease (and those who are skeptical that there’s anything actually wrong with me!).

This is the online version, suitable to view only:
eds brochure online

This is the printable version.  Print on both sides of the paper, then fold into 3 to create a little fold out leaflet:
eds brochure print version

 

 

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Tags: Ehlers-Danlos Syndrome, hypermobility, joint hypermobility syndrome, symptoms, treatment, diagnosis, collagen, double jointed

 

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2 thoughts on “Guide to Ehlers-Danlos Syndrome

  1. Jeanie Malone

    Hi, thanks for sharing. I don’t typically have much time to search and research, but today I was curious if I could find a link between my mast cell problem, interstitial cystitis, fallen organs/pelvic congestion, and the already linked dysautonomia, mitral valve prolapse, and Ehlers Danlos. I would also like to search out if there’s a connection to the my Ankylosing Spondylitis and other problems, probably so. It’s all one big puzzle that fits together because it’s the total health of one person. I had no idea that 1/10 people diagnosed with Ehlers Danlos also have Mast Cell Disease. Will you please share your research? I would love to look into this further. My immunologist is keeping my mast cell diagnosis vague. We just know that my mast cells are almost 50 times too active. They also get “riled up” very easily and make me feel terrible. I am on a prescription, otc, and natural regimen to control mast cell activity with my doctor ready to do injections of two medications and another prescription if needed. This is my health issue of focus lately since flare-ups really add to my daily pain. An ounce of prevention is worth a pound of cure. Do you have a particular mast cell disease or disorder? Thanks again for sharing! ☺️

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    Reply
    1. Jak Post author

      Hi Jeanie

      I was diganosed with Mast Cell Activation Disorder in 2013 by the UK’s leading MCAD spcialist. You can read about my journey with MCAD here https://mastcellblog.wordpress.com/journey/mastcell/

      Sorry but I’ve forgotten which EDS expert said that of the patients he was seeing around 10% seemed to also have a mast cell disease but the link between EDS and MCD is now widely accepted. There is a whole section of the new EDS Classification dedicated to MCD which you can find here https://www.ehlers-danlos.com/pdf/2017-FINAL-AJMG-PDFs/Seneviratne_et_al-2017-American_Journal_of_Medical_Genetics_Part_C-_Seminars_in_Medical_Genetics.pdf

      All I can manage today as not feeling great.
      Jak

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      Reply

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