Author Topic: Ehlers-Danlos Syndrome (EDS) Symptom List  (Read 64571 times)

Emmerson Elliot

  • Administrator
  • Hero Member
  • *****
  • Posts: 838
    • View Profile
Ehlers-Danlos Syndrome (EDS) Symptom List
« on: July 03, 2015, 10:19:26 PM »
World-renowned EDS expert, rheumatologist Professor Rodney Grahame (University College London Hospital, Head, Department of Rheumatology) points out that, in America, almost 650,000 cases of EDS are missed ANNUALLY, based on studies that suggest almost 95% of cases presenting to clinics are missed, most often diagnosed with other things (RA/Fibro/ME/CFS/Thyroid issues etc.)..
This means that statistically there is a good chance that you have been misdiagnosed.


No other disease in the history of modern medicine has been neglected in such a way as Ehlers-Danlos Syndrome

Professor Rodney Grahame, October 2014 (EDS UK 2014 conference)



Do you or your family members  have any of these?

and because many symptoms do not manifest until later in life (so if an older relative has a related history it can be significant to YOUR diagnosis). 

Migraines, motion sickness, allergies, hay fever, asthma, excema, varicose veins, Irritable Bowel Syndrome, GERD/gastric reflux, nausea, gastroparesis (GP), hernias, diverticulitis, bendy joints or joint jhypermobility

 (NB - joint hypermobility is not essential - many with EDS are rather stiff in the joints and muscles it now seems)

 soft skin, easy bruising and bleeding, frequent nosebleeds, slow wound healing, thin translucent skin that you can see the veins through, unusual scarring especially on the lower legs.

Unusual stretch marks.

PEM - post-exertional malaise, Dyscognition or "brain fog" ....which may be episodic.

Positive Gorlin's sign (ability to touch your nose with your tongue - see top two rows of these pics's+sign&qpvt=Gorlin%27s+sign&FORM=IGRE)

Frequent ear infections and sore throats.

Motion Sickness

Joint pains,
TMJ (Tempero-Mandibular Joint dysfunction - i.e. a sore jaw that hurts to chew, speak  or open your mouth),
RSIs (Repetition Strain Injuries)

Scoliosis, kyphosis, pectus scavatum, Pectus Carinatum, Kyphoscoliosis

Vascular and cardiac issues like aneurysms and mitral valve problems (MVP)

Intolerance of heat and cold (possibly due to circulation issues or low blood volume)

Insomnia and unrefreshing sleep.


Gastroparesis, anorexia nervosa, Coeliac Disease

IBS (Irritable Bowel Syndrome....possibly due to an over-stretchy gut? ) - this can manifest as  constipation, diahorrea  or both alternating.

Rheumatoid Arthritis, Hashimoto's Thyroiditis are  also often associated with EDS.

Also POTS/OI (Orthostatic Intolerance and Postural Orthostatic Tachycardic Syndrome which may manifest as fainting, dizziness, heat and alcohol intolerance etc.

Fatigue conditions and FM/ME/cfs of course  - the "fatigue" can be severely debilitating and may get worse as you get older.

Overcrowding of teeth (orthodontic work needed), periodontitis and weak, crumbly teeth.

Unstable joints/proneness to sprains, dislocations, subluxations and hyperextension. Stiff joints and muscles, joints that click, early onset of osteoarthritis, chronic degenerative joint disease, muscle pain, frequent tearing of tendons or muscles.

Reynaud's phenomenon, Dupuytren's contracture, carpal tunnel syndrome,

Costochondriatis (a sharp strong chest pain, muscular in origin, neuropathies.

Eye Issues
 Nearsightedness is common but so are other eye problems like intermittent blurry vision, blue sclera, droopy eyelids.

EDS is also associated with pregnancy complications such as post-partum haemorrhage and miscarriages.
and  with "growing pains".

Frequent infections
Photophobia - sensitivity to light
Hyperacousia - sensitivity to noise
heightened sense of smell ( these 3 likely due to the effects of excess adrenaline secretion)

Symptoms often get worse after meals (post-prandial exacerbation of symptoms) - likely because of the diversion of blood to the digestive tract after meals -  leaving less available for other functions.

 Chiari Malformation, Tethered Cord, Occult Tethered Cord, CCSVI


Ganglion cysts  - rounded hard lumps eg on the wrists.

Petechiae (tiny red dots of blood just under the skin that appear for no apparent reason due to capillary fragility).

Piezogenic papules  - small fatty raised nodules on the inside of the heels,706.0.html
skin tags (Acrochordon) small longish pedicles of skin overgrowth on various parts of the body, esp the armpits; the wiki description is good but not their pic

keratosis pilaris (small pimply red rash on upper arms that comes and goes


A youthful facial appearance (few wrinkles) is common in EDS.... however it sometimes goes with an aged appearance to the back of hands and Acrogeria -

YOU do NOT need to have ALL these symptoms to have EDS and few will have them all but your family members may have some and you will have some others.

SIDENOTE - Anyone researching the lucrative "youthful appearance" field may want to study EDS genes and collagen because EDSers tend to look so young for so long! A youthful face with no fillers ! .....Madonna?
Likewise anyone researching the anti- aging field may want to study Ehlers-Danlos veins and genes as most of us often FEEL 20 years older than we are much of the time for some reason so our bodies may have the answer to why people have less energy as they get older.....just a thought.

NB   The symptom list is so diverse as EDS is a connective tissue disease (CTD) and Connective tissue  is nearly everywhere in the body.

Note that symptoms vary form person to person, even within the same family.


Other possible  symptoms -  dry lips, alcohol intolerance, clumsiness (?possibly due to poor proprioception), possibly cysts too and a youthful appearance-few wrinkles.  Ear problems like infections,  "water in ear", butterfly in ear - like the ear drum fluttering  -  or blocked-ear feeling and tinnitus. 

Also as your brother may delight in showing off - the easy ability to evert the upper eyelid can also indicate EDS - my brothers loved doing that and would sit like that and stare at you for ages. This Is called Metenier's Sign.
« Last Edit: February 12, 2017, 12:53:39 AM by Emmerson Elliot »

Emmerson Elliot

  • Administrator
  • Hero Member
  • *****
  • Posts: 838
    • View Profile
Re: Symptom List
« Reply #1 on: August 19, 2015, 05:29:57 AM »
It's important that to remember that the vast majority of doctors are not up to date with recent research on Ehlers-Danlos syndrome

Unfortunately many of them remember a slide from medical school which showed someone with either very stretchy skin or hyper mobile joints or both and they think that those qualities are essential for an EDS Diagnosis.

Instead of admitting or even realising that they are not up to date with current EDS research they will often wrongly dismiss you and say it is not possible that you have EDS because that you have EDS because it is rare.

So it's a good idea to find a knowledgeable specialist near you who really knows about EDS and get a referral to them from your GP or PCP

EDS symptoms vary enormously from person to person, even within the one family, due to the genetic nature of the illness/es.

As EDS also commonly causes POTS ... Postural orthostatic tachycardic syndrome
It's also a good idea to find a specialist to knows how to diagnose that properly and arrange for tilt table test and other testing if necessary.

There is a full list of POTS tests and another of POTS treatments in the POTS section of this forum based on the BIG POTS survey by Dr Satish Raj (Vanderbilt University)

It's estimated that about 95% of doctors still don't even know what POTS is And unfortunately it seems the medical profession does not have a fast way of disseminating new research.

Four years after I was diagnosed with POTS It is distressing to find that many cardiologists in this major city where I live have still never even heard of POTS  -  let alone know how to diagnose it.

Note that a  TTT-  tilt table test  - can give false negatives so it it does not show up your postural drop or tachycardia that does  NOT exclude a POTS diagnosis.


« Last Edit: February 14, 2017, 01:20:52 AM by Emmerson Elliot »

Emmerson Elliot

  • Administrator
  • Hero Member
  • *****
  • Posts: 838
    • View Profile
Re: Symptom List
« Reply #2 on: October 05, 2015, 05:29:29 PM »
Floppy baby syndrome has also been connected to EDS
Officially I think (as of 2015) according to a senior medical specialist in Australia - (Prof David Sillence)

« Last Edit: January 05, 2016, 07:58:56 PM by Emmerson Elliot »

Emmerson Elliot

  • Administrator
  • Hero Member
  • *****
  • Posts: 838
    • View Profile
Re: Symptom List
« Reply #3 on: October 26, 2015, 02:04:06 AM »
Pectus Excavatum  - Link with pictures. -

Can occur with EDS, Marfan and other CTDs - as can Pectus carinatum
« Last Edit: January 05, 2016, 07:59:40 PM by Emmerson Elliot »

Emmerson Elliot

  • Administrator
  • Hero Member
  • *****
  • Posts: 838
    • View Profile
Re: Symptom List
« Reply #4 on: November 08, 2015, 11:24:01 PM »

Here are some good facebook groups to join for discussion and to ask questions and meet others with chronic illnesses who are looking into for information resources and answers.

Some good Facebook groups to join to learn more about POTS, Fibromyalgia, ME/cfs, chronic fatigue syndrome, EDS, MCAD and Chiari One Malformation etc

EDS/ME/CFS/FM/POTS/Chiari etc articles and info

Ehlers-Danlos EDS/POTS/MCAD/Chiari Support Worldwide

EDS Australia and NZ


Celebrities with Invisible Illnesses

David BOWIE had Ehlers-Danlos Syndrome and Dysautonomia

If you have muscle or joint stiffness as well or instead of hypermobility there is this group
Stiff Zebras

IV Intravenous access, PORTS and PICCS for POTS, EDS, ME/cfs and FM

Upright MRI Open MRI worldwide locations

AND To find informed, aware and supportive DOCTORS near you

Good North American doctors for

Good Australian Doctors for....

Good European Doctors (Including Britain and Ireland) for ME/cfs /FM/EDS/POTS/CHIARI/MCAD/Hashi's/RA

State groups in Australia

EDS Victoria


EDS Support Group - Sydney & 200kms around.


« Last Edit: February 14, 2017, 11:35:00 PM by Emmerson Elliot »

Emmerson Elliot

  • Administrator
  • Hero Member
  • *****
  • Posts: 838
    • View Profile
Re: Symptom List
« Reply #5 on: December 11, 2015, 01:23:31 AM »

Club foot

- I saw a recent peer-reviewed medical article linking club foot to EDS as well. circa December 2015

I will look out for it and post the link soon.

I  had heard of this reputed association previously so not surprised.


Ryan Ryder

  • Guest
Signs & Symptoms of EDS - Documents
« Reply #6 on: January 10, 2016, 12:43:03 AM »
Excessive Daytime Sleepiness/Poor Sleep/Chronic fatigue

Sleep-Disordered Breathing in Ehlers-Danlos Syndrome: A Genetic Model of OSA

In patients with Ehlers-Danlos syndrome, abnormal breathing during sleep is commonly unrecognized and is responsible for daytime fatigue and poor sleep. These patients are at particular risk for SDB because of genetically related cartilage defects that lead to the development of facial structures known to cause SDB.

Full Article PDF: 

Upper Airway Resistance Syndrome (UARS)

Obstructive sleep apnea (OSA) is believed to be a progressive disorder that lies on the extreme end of a spectrum of sleep disordered breathing

Causes of UARS are similar to OSA.

It can be caused by a naturally narrowed air passage, loose fatty tissues of the throat collapsing back into the airway, or the position of the tongue (falling back) during sleep.

Similar to OSA, the brain has to arouse itself from deeper stages of sleep to increase respiratory effort.

When the brain is constantly being aroused from the deeper stages of sleep, it's not able to perform other important tasks that it needs to complete so that you can feel refreshed in the morning.

This can lead to symptoms of chronic fatigue and excessive daytime sleepiness, which are also present in obstructive sleep apnea.

Patients with OSA are often overweight or obese (although they can be of normal weight), whereas patients with UARS are often of average weight.

Sleep-Disordered Breathing

The measurement of esophageal pressure is the gold standard for measuring respiratory effort and is the only consistent measurement reported for the diagnosis of UARS

*****Many doctors do not preform nocturnal esophageal pressure monitoring (PES) as a part of a sleep study, but this can be very important for sleep related diagnosis in those with EDS. *****


The Ehlers-Danlos Society’s EDS in Practice: Information for the Phases of Life is available in PDF by clicking here.

This PDF is a three page overview of EDS for doctors and clinical professionals. The Pediatric Checklist covers screening and management for children with EDS; the Adult Checklist, screening and management for adults with EDS; and a third page provides an overview of background information about EDS and its types.

Pediatric Checklist
Connective Tissue Disorders and Ehlers-Danlos Syndrome
Why Is Screening Important?
What Can I Do?


A Brief Guide for Medical Professionals on Presentation, Diagnosis, and Treatment

Dr A J Hakim MA FRCP

Signs and Symptoms

1. Presentation, Signs and Symptoms

1.i. Joint hypermobility is very common in the general population, affecting 20-30% of individuals to some degree either in isolated joints or more generalised. It is most common in childhood and adolescence, in females, and in Asian and Afro-Caribbean races. Joint hypermobility tends to lessen with ageing.

1.ii. Joint hypermobility may be of no medical consequence and might even confer advantages for dancers, musicians and athletes. However, it may be associated with:

Recurrent joint sprains and ligament and tendon injuries;

Acute pain as a consequence of acute injury;

Sustained chronic pain due to sensitization and amplification of pain in peripheral nerves and the spinal cord;

Poor proprioception (awareness of joint position) and spatial awareness that can lead to injury;

Joint subluxation (incomplete dislocation) or dislocation of joints; and

Is a common feature of a number of Hereditary Disorders of Connective Tissue (HDCT), a group of conditions that includes Ehlers Danlos Syndrome (EDS).

Symptoms often worse around the menstrual period due to changes in the balance between oestrogen and progesterone at this time.

1.iii. Joint Hypermobility Syndrome (JHS) is a complex spectrum of signs and symptoms of varying degrees and combination. As described in 2.ii it is considered synonymous with the Hypermobility variant of Ehlers-Danlos Syndrome (Tinkle et al 2009). For the purposes of this commentary the two terms are considered inter-changeable.

Signs and Symptoms include:

Hypermobility of joints, including axial as well as peripheral joints;

Joint dislocation and/or subluxation;

Degenerative changes of joints;

Recurrent soft tissue injuries that typically take longer than average to heal and may become chronic, persistent injury;

Skin fragility with stretchy skin, easy bruising, scarring, and stretch marks;

Weakness of the abdominal and pelvic wall with herniation and prolapse;

Cardiovascular and gastrointestinal autonomic dysfunction that manifest as hypotension, faints / blackouts, and ‘irritable bowel syndrome’ / gastroparesis;

Cardiac mitral valve prolapse;

Varicose veins;

Resistance to local anaesthetics;

Chronic regional or widespread pain (expanded description in section 1.04)

Chronic fatigue (expanded description in section 1.iv); and

Anxiety (expanded description in section 1.v).



Symptoms Involved in Ehlers-Danlos syndrome hypermobility type & Joint Hypermobility syndrome!symptoms/c1qvq



When to Suspect (EDS - document for patients)

"Fibromyalgia (FM). Many patients diagnosed as having Fibromyalgia really have JHS, since many symptoms are very similar, with recurrent pain, “trigger points”, chronic fatigue and with normal laboratory tests. It is my opinion that FM is part of the JHS disease, since all patients with FM that I see fulfill the Brighton criteria that is diagnostic for JHS. Wed call these pains “fibromyalgic pains of JHS”

-Dr. Bravo

Dr Bravo's When To Suspect document:


« Last Edit: January 31, 2017, 10:27:25 PM by Ryan Ryder »

Ryan Ryder

  • Guest
Club Foot (talipes equinovarus)
« Reply #7 on: January 31, 2016, 12:09:23 AM »
Club Foot (talipes equinovarus )

  Club foot   - I saw a recent peer-reviewed medical article linking club foot to EDS as well. circa December 2015  I will look out for it and post the link soon.  I  had heard of this reputed association previously so not surprised.  EE


How common is clubfoot in Ehlers-Danlos syndrome?

About 12% of neonates with the Vascular Type of EDS have clubfoot and 3% have congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax and recurrent joint dislocation or subluxation are common [Pepin et al. 1992]. Affected individuals often have a lifelong history of easy bruising.



Rheumatalogical features

Professor H A Bird MD FRCP, Emeritus Professor of Pharmacological Rheumatology, University of Leeds 

"Foot problems are common, talipes equinovarus (club foot) being the most frequently seen in about 7% of patients. This may result from an intrauterine malposition in a foetus with lax ligaments."

« Last Edit: March 14, 2016, 09:55:46 PM by Ryan Ryder »

Ryan Ryder

  • Guest
Signs of EDS
« Reply #8 on: March 14, 2016, 11:10:49 PM »
Read her story....

My Wife Had EDS and Did Not Know it!



Jaime F. Bravo MD

Typical EDS-III Faces

• Triangular face (pointed jaw)

• Atypical ears: prominent

“winged”; small, round and without lobule;

lobule attached tothe face;

Different shapes:

kidney shape,

“Dumbo” ears,

pointed “Mr. Spock” ears,

soft ears,

bent upper helix,

prominent ante helix;

question mark shape ears; operated ears.

• Light blue sclera, more noticeable in women.

• Atypical nose:

nodule between the bone and the cartilage;

deviated nasal septum;

operated nose.

• Antimongolic slant

Ref. Bravo JF. Arthritis Rheum 2006; 54 (2): 515-23

********Important Note:

Remember that 50% of EDS-III have little or no hypermobility (Beighton 3/9 or less)



Absence of inferior labial and lingual frenula in Ehlers-Danlos syndrome: a minor diagnostic criterion in French patients.



The Missing Frenulum: A Clue to Ehlers-Danlos Syndrome



Spectrum of Mucocutaneous Manifestations in 277 Patients with Joint Hypermobility
Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type 

*an abnormal lingual motility,

*incompetence to completely adhere the tongue to the hard palate, and

*atypical deglutition in association with
hypoplasia of the lingual frenulum.

These features, in combination with the visual impression (Fig. 4E and F) and the unexpectedly low rate of positive Gorlin’s sign (6.7%), are compatible with a

*SHORT, instead of hypo-plastic or absent, lingual frenulum,

thus suggesting the existence of a particular form of

“posterior tongue tie” in JHS/EDS-HT.

if functionally investigated in futureworks, may contribute in understandingthe pathophysiology of other cervico-facial features of JHS/EDS-HT, such as

*oropharyngeal dysphagia and



Figure 4F

*Short lingual frenulum "posterior tongue tie”

The frenulum appears but remains small and short when the patient places the tongue adherent to the hard palate (F).




Indian J Dermatol.

2010 Jan-Mar; 55(1): 86–91.

Clinical signs such as Gorlin sign and Metenier sign have been described in this syndrome.

We report another new clinical sign called ‘Reverse-Namaskar’ sign as an important clinical finding in EDS, based on the family pedigree study of the proband.



Gorlin sign (ability to touch the tip of the nose with the tongue)


Metenier sign (easy eversion of upper eyelid)



Hypermobile Tounge



Patient with Ehlers-Danlos syndrome. Note the abnormal ability to elevate the right toe.

Courtesy of Enrico Ceccolini, MD.



"Flying Bird” Hand Sign

Hypermobility of the hand joints allows this woman to extend her hand in a position resembling a flying bird.



”Lax scribe Hand” sign

Remember having trouble holding a pen or pencil properly in school?

These patients hold the pencil with marked flexion of the fingers or they used 4 fingers instead of the usual 3. They also frequently turn a little the page when writing.




Lenticular Moles

Brown moles, the size of lentil peas (called lenticular moles) than can appear anywhere in the body, specially
arms and face.



« Last Edit: June 26, 2016, 03:09:08 PM by Ryan Ryder »

Ryan Ryder

  • Guest
When Else to Suspect Ehlers-Danlos Syndrome
« Reply #9 on: March 26, 2016, 06:30:26 PM »
When Else to Suspect Ehlers-Danlos Syndrome

Oh TWIST (Oh! That’s Why I‘m So Tired!!) Blog

Posted on May 24, 2015

by Jandroid (Jan Groh)

Postive Gorlin’s sign (ability to touch tip of tongue to nose, yes I think this case has EDS, natch)
Flying Bird Hand sign
W-sitting (don’t do it!)
Reverse Namaste or Namaskar sign (able to form the “Namaste” prayer pose with hands behind your back)
Severe myopia and or astigmatism
Nystagmus or repetitive uncontrolled eye movements (magnesium may help)
Chronic Blepharitis  or eyelid infections (likely from Selective IgA deficiency, part of commonly comorbid CVID)
Weak, crowded or cracked teeth
Stretchy skin, ability to flip eyelids up (and freak out younger siblings)
Contortionist ability, or extreme flexibility in gymnastics or acrobatics
Weak ankles, trouble wearing high heel shoes, strong pronation or anti-pronation
Weak knees, loose patellas, hyper-extended knees
Thin skin that tears easily and any scars that widen or grow or move
Fallen or falling arches, or any related issues (neuromas, plantar fasciitis)
Easy bruising
Easy bleeding, trouble suturing, poor healing post surgery
Any amount of CSF leaks anywhere along the dura, but especially out the nose or ears (yes, this happens!)
Deviated septum
Crossed eyes or wandering eyes from lax eye ligaments
Bulging veins, varicose veins (especially early onset)
Venous insufficiency
Herniations or prolapses of any and all kinds
Easy or frequent faiting or dizzy spells (likely from comorbid POTS and dysautonomia)
Chronic constipation with quick flips to diarrhea (IBS) – already mentioned in first post
Lots of allergies of any kind
Chemical sensitivity, multiple chemical sensitivity (likely really a form of MCAD)
Insomnia and adrenal fatigue (as a result)
Sleep apnea, snoring, even in “thin” patients (weight doesn’t help, but we have weak laryngeal tissues)
Chronic headaches of almost any kind, including migraines
Chronic idiopathic (unknown origin) nausea
Bad handwriting, lax hand writing, trouble holding pens or pencils properly, need for pencil “grip”
Chronic or recurrent infections, get sick easily or often fighting candida and viruses (likely from CVID)
Chronic or frequent heart palpitations or fluttering, tachycardia (PVCs and POTS are common in us)
Chronic or frequent or multiple instances of tendonitis (aka tendinitis)
Bursitis, chondromalacia of any kind (loss of cartilage between bones of a joint, any joint, though usually knees)
Bone spurs (why this is true I don’t know, but it’s common in us)
Spinal stenosis
Easy flushing red (from MCAD)
Trouble swallowing from floppy laryngeal tissues and CCI and more
Hearing trouble from weak inner ear bones, weak tendons, or sensory processing disorder
Sensory Processing Disorder of any kind (including lack of pain in some lucky cases)
Poor temperature control (run hot or cold easily, usually cold)
Chronic fatigue (may be misdiagnosed as Chronic Fatigue Syndrome aka ME / CFIDS / SEID)
Fibromyalgia (already mentioned, and very very common, usually an under-diagnosis for HEDS)
EMF sensitivity – and tendency to “blow” nearby electronics
Ganglion cysts, Baker’s cysts
Peizogenic papules
Lipomas and lipedema
Osgood-Schlatter’s disease (knobby knees from rapid growth in childhood)
Leaky gut syndrome, dysbiosis
Hypochlorhydria or low stomach acid (we aren’t sure why, but it’s common and lends to dysbiosis and SIBO)
SIBO – Small Intestinal Bacterial Overgrowth (likely aggravated by weak ileocecal valves in us allowing more to “back up” than should)
Keratoconus (droopy or pointy thin corneas)
Sensitive eyes, trouble wearing contacts
Weakness, mitochondrial disorders
Seizures, hypnic jerks, myoclonus and actual epilepsy
PTSD, anxiety and panic disorders
Depression and mixed mood disorders of all kinds
Stretch marks or striae in either gender, not just after pregnancy in women
Drooping upper eyelid or brow sometimes requiring an upper eye “tuck”
Spinal stenosis
Claw finger or hammer toe or claw toe
Early onset arthritis of any kind, as well as any other form of auto-immune disorders (very common in us, secondary)
Paradoxic reactions to medications, strong or strange reactions, need for increased novocaine or lidocaine


Ehlers Danlos Comorbidities

Oh TWIST (Oh! That’s Why I‘m So Tired!!) Blog

by Jan Groh

Fibromyalgia Chronic fatigue, often diagnosed as CFS/ME Chronic Pain of ALL kinds, including RSD/CRPS, arachnoiditis, neuropathies, radiculopathy, neuralgia, fibromyalgia, etc. often invisible on scans MCAD (Mastocytosis or the newly recognized Mast Cell Activation Syndrome aka MCAS – ICD-10 code to come soon hopefully in 2014) Fibromyscular dysplasia (deformity of the arteries, especially leading to the kidneys) Autism Spectrum Disorders (all levels) and related disorders (OCD, ADHD, SPD) Mood disorders, especially anxiety and depression (likely organic in origin and/or secondary with ASD) Thyroid issues (high and low, often auto-immune despite normal TSH “levels”) MS and other auto-immune disorders (RA, Sjogren’s, Lupus, Ankylosing Spondylitis, OA, more) Arthritis of all kinds, especially early onset Oestoarthritis in the spine, neck and hands, but RA common also (really AI also) Irritable Bowel Syndrome (IBS) & proclivity toward constipation, but with quick flips to diarrhea (likely food allergies/MCAD) Incontinence at any age (often from occult tethered cord and/or MCAD or allergy induced) Frequent (seemingly idiopathic) nausea and vomiting (may be from impinged vagus nerve/MCAD/hiatal hernia/gastroparesis/Chiari) Dysautonomia of all kinds, most notably poor temperature and BP regulation (high or low, see POTS below) Raynaud’s phenomon (blood vessel constriction from cold, stress) pronounced “ray-noe’s”) – a form of dysautonomia POTS (Postural Orthostatic Tachycardia Syndrome) – a subset of dysautonomia involving BP drops and syncope (fainting) Hyperadrenergic POTS (aka HyperPOTS) – a subtype of POTS involving more variable BP and adrenaline responses NMH (Neurally Mediated Hypotension) – another form of dysautonomia affecting BP Livedo Reticularis (purplish/white “mottling” on skin surface from likely small capillary spasming) Frequent joint dislocations and subluxations (partial dislocations) or being so-called “double-jointed“ Mitochondrial disorders and deficiencies Kidney trouble including diabetes insipidus Diabetes miellitus and Metabolic X syndrome Sensory Processing Disorders Tinnitus (ringing in the ears) Insomnia (trouble falling and staying asleep, multiple causes in the EDS patient including pain and hyperadrenergia) Sleep apnea, both obstructive airway issues and Central Nervous System (CNS) Apnea (neurologic in origin requiring a sort of breathing “pace maker”) Cranio-cervical settling (which may cause the CNS Apnea) and attendant neuropathic issues and glaucoma Hypotonia (unusually weak muscles despite “training”) sometimes presenting as “floppy babies” Syncope and pre-syncope (fainting and near fainting) and unusually low BP Dizzyness (with or without syncope) Common Variable Immune Deficiency (CVID) of all kinds leaving us prone to frequent & worsening recurrent infections of all kinds, especially respiratory & UTI’s Interstitial cystitis Lymphedema and angioedema (the latter comes with MCAD triggering usually) Lipoedema (not the same as lymphedema, also spelled “lipedema” in US) an adipose (fat) tissue disorder causing unavoidable weight gain Endometriosis Tendonitis and bursitis of all kinds (aka “soft tissue rheumatism”) Keratoconus or thinning /”pointy” corneas Uveitis (inflammation of hte uvea of the eye, common with ankylosing spondylitis) Varicose and spider veins, often early onset Phlebitis Migraines and headaches of ALL kinds and durations, (often driven by hydrocephalus from MCAD) Food and drug allergies and sensitivities with a lot of paradoxic and unexpected super sensitive reactions Bleeding disorders including Von Willebrand’s Strokes Mitral valve prolapse Aneurysms of all kinds, anywhere Easy bruising often from no apparent cause or injury GERD (weak hiatal sphincters and MCAD can contribute here – the stomach produces acid in resopnse to histamine from food reactions) Gastroparesis (slow stomach emptying) and dysmotility (poor digestive movement) beyond just constipation and IBS Chiari malformation, including occult (hidden) Chiari aka “Chiari Zero” formation (“saggy” hind brain, often protruding through the back skull, but not always) Tethered cord Syringomyelia or “syrinx formation” in the spinal cord (may be caused by long term hydrocephalus) Spondylolysthesis, spondylolisis (misalignment of the spinal vertebrae in various directions – front -to-back, side-to-side) Cranial cervical instability, esp C1-C2 “owl turns” and “bobble-head” issues (trouble keeping head on neck, literally, with resulting neurologic issues) Thoracic outlet syndrome, brachial outlet syndrome Seizure disorders and epilepsy Fallen arches (pes planus) Sciatica Bilateral hip dysplasia (ability to “pop” – aka sublux – hips out and back in easily, which should be avoided!) Cerebral Spinal Fluid (CSF) leaks including CSF rhinorrhea, CSF otorrhea (CSF leaks out nose and ears) or anywhere along the dura (lining of spinal column & brain) Celiac disease and all forms of gluten sensitivity Malabsorption and malnutrition and nutritional deficiencies despite diet and even supplementation sometimes. (Poor absorbption). Electrolyte imbalances (often low potassium) Osteopoenia (low bone density) and osteoporosis (brittle bones), often early onset Scoliosis (deformity of spinal curve) of all kinds including kyphosis (aka “roundback”, forward bent spine) Hiatal hernia (stomach to esophagus sphincter) and all other forms of hernias just about anywhere (inguinal, duodenal, abdominal, etc.) Costochondritis (pain at front rib attachment point to sternum) Chondromalacia (cartilage loss) of all kinds, especially patellae (loss of cartilage in the knees, but can occur elsewhere, e.g. hips) Frozen shoulder Petechiae (dark purplish spots, essentially flat blood blisters under the skin, common in those with MCAD with high heparin levels) Metal and other environmental allergies, especially nickel sensitivity (ELISA testing often helpful, pre-test all implant materials) Diastasis recti, (splitting of abdominal wall along the midline) even in males and unpregnant females Striae aka “stretch marks” even in males and young (prepubescent) females (i.e. not always associated with pregnancy!) Strabismus (crossed eyes) or wandering eyes from likely weak eye ligaments Bruxism (jaw clenching, tooth grinding) TMJ pain and issues, subluxations and dislocations (Temporo-mandibular joint syndrome, jaw alignment trouble) Restless Leg Syndrome (RLS) and leg cramps (often eased by increased magnesium) Neuromas in the feet Plantar Fasciitis Chronically low Vitamin D and B12 levels (caution urged for those with MTHFR mutations with the latter, may need a different form of Vit B) Weak or crowded teeth, many need early or partial dentures Urticaria (hives) and Urticaria Pigmentosa (persistant hive-like patches, part of MCAD above) Hair loss early, and even in women, especially those with signs of MCAD or iron imbalances Deviated septum (misaligned nasal cartilage) Trouble swallowing & choking issues, often neuropathic in origin from CCI, sometimes due to floppy laryngial tissues Esophageal spasms (can extend to anywhere along GI tract also) Skin tears or rips, trouble suturing, would dehiscence (trouble healing post surgery, especially soft inner tissues) Liver problems, including fatty liver and lesions, enlarged liver Enlarged gallbladder & spleen, appendicitis (may be MCAD driven) Vocal cord dysfunction Hearing loss from a variety of causes, some bio-mechanical, others neurologic Diverticulitis and diverticulosis Crohn’s and colitis Leaky gut syndrome Retinal detachment and tears (rips) Keratoconus (“pointy”, droopy corneas)  Dry eyes and blepharitis (bacterial eyelid infections), as well as retinal tears and more
« Last Edit: March 26, 2016, 06:43:26 PM by Ryan Ryder »

Ryan Ryder

  • Guest
Re: Ehlers-Danlos Syndrome (EDS) Symptom List
« Reply #10 on: June 12, 2016, 07:09:40 PM »

Symptoms Involved in Ehlers-Danlos syndrome hypermobility type & Joint Hypermobility syndrome

It is important to know the many symptoms of Ehlers-Danlos Syndrome hypermobility-type and Joint Hypermobility syndrome, in order to better recognise the underlying cause. It is also important to remember that symptomatic-hypermobile people suffer from various combinations of these symptoms.  A diagnosis of EDS-H / JHS needs to be considered for a patient presenting with troublesome ankle joints, autonomic problems and poor proprioception, just as much as it does for someone who presents with multiple dislocations, chronic fatigue and bowel problems. 
The key is to check whether underlying hypermobility is present and considering whether it may link the symptoms.
'Mastering the broad spectrum of subtle findings detectable at inspection is crucial for early diagnosis and management of potentially disabling complications.' (Quote relating to EDS-H & JHS: Marco Castori MD, Centre for Medical Genetics, Dept. of Molecular Medicine)
'The range of presentations (therefore) varies from the single subluxing or dislocating joint, to multiple joint injuries, weak abdominal and pelvic wall, widespread pain syndromes, to complex systemic cardiovascular, respiratory, and bowel problems.’ (Quote relating to EDS-H & JHS: Dr Alan J Hakim MA FRCP).​
Primary Symptoms

• Pain and Joint pain: Pain found in EDS-H / JHS is unusual in the medical world because it is one of the few conditions causing both chronic and acute pain and because (except after dislocations etc.) it is notably pain without the inflammatory component of other rheumatological diseases. 'Joint Hypermobility Syndrome is the most frequent cause of musculo-skeletal pain in any rheumatological clinic.' (Quote: Dr Jamie F Bravo MD Prof. of Medicine)In many cases pain, will not go away completely even with the normal pain management strategy of anti-inflammatory medication (NSAIDs), rest, ice, and elevation (for more detailed information, please see the 'Pain and EDS-H / JHS' section, in 'Additional Information' on the main menu)
• Poor proprioception: Problems with the body’s central nervous system in understanding theposition and movement of the body's joints and limbs. This may be so slight that the person with EDS-H /JHS doesn't even realise, but the slight or momentary lack in proprioceptive feedback can trigger subluxations / dislocations. If more obviously affected the person may also have been labeled as clumsy. (Please see the 'Proprioception and EDS-H /JHS' section in 'Additional Information' on the main menu)
• Muscle stiffness and tightness: Caused by the extra work muscles have to do to try and keep a hypermobile person's joints stable, and the muscle imbalances within joints. (Please see 'Pain and EDS-H /JHS' section under 'Additional Information' on the main menu).
• Popping, or clicking of joints with movement: Most of the popping or cracking noises experienced by those with hypermobile joints are due to cavitation (the formation of an empty space within body tissue). As a joint is stretched the volume of the joint space increases slightly as the joint surfaces separate which causes a drop in joint pressure resulting in the formation of a small bubble of CO2. Studies show that this is usually harmless to the joint. However, repeated joint popping, clicking, grinding or crunching can also be caused by conditions that represent more serious joint status, such as crepitus / degenerated cartilage from osteoarthritis, especially if pain is involved.
• Frequent dislocations or subluxations (a partial dislocation)  Joint Dislocation occurs when the normal alignment of a joint is dislocated, or separated abnormally. Ligaments bind the bones in a joint together. Weak or overly stretched joint ligaments, such as those often found in people with EDS-H / JHS, can lead to dislocation or subluxation of the joint with or without trauma, and sometimes spontaneously. Subluxation means an incomplete or partial dislocation of a joint. A dislocated joint will need to be moved back into place.  Some people with EDS-H & JHS may be able to put their joints back into place themselves, some experience profound dislocations and are unable to do so, instead requiring frequent medical intervention. General recommendation would be that you should always seek medical attention if you have dislocated a joint.
Common dislocations and subluxations include, knee dislocations, shoulder dislocations, finger dislocations and so called 'pulled-elbow' which is actually a subluxation of the radial head from the annular ligament. Areas, which many clinicians would think were 'very unlikely' or 'impossible' to dislocate, can also be affected in those with EDS-H & JHS, for example, wrists that dislocate or ribs which can move out of position from front to back as well as inwards and outwards.

• Hyperextension of joints  When muscles and ligaments are lax, a person's joints can extend into a range which is greater than considered ‘normal’. If a joint is overstretched or "bent backwards" because of exaggerated extension motion, this is classed as hyperextension (see pictures in ‘Diagnosis by Clinical Assessment’ under the ‘Helpful Information’ section of the main menu). Although hyperextension in many EDS-H & JHS patients is 'normal', allowing your joints to be used whilst in hyperextension can put a lot of stress on the ligaments of the joint. Some experts believe that patients should refrain from allowing their joints to extend beyond what is classed as normal within the general population, others argue that it is more effective to encourage a hypermobile patient to exercise (using carefully prescribed exercises) into their natural 'extended' range, in order to protect that extra range in day-to-day living (please see 'Physiotherapy and EDS-H /JHS' in the 'Additional Information section of the main menu for more information).

• Sprains, turning of ankles  Ankle instability arises when an injured ligament fails to regain its structural elasticity, or has too much anatomic elasticity due to defective collagen (as in hypermobility), causing the ankle joints to become hypermobile and move in atypical ways. Instability creates a sensation of "giving-way" Chronic low-grade swelling and pain may also be noted. The frequency of future ankle sprains is greatly increased because ankle instability usually involves long-term weakening of the joints. Long term ankle pain/weakness can alter a person's gait, which can go on to adversely affect joints of the knees, hips and lower back.
• History of other recurrent musculo-skeletal problems: Examples include tendinitis (e.g. tennis elbow, achilles tendonitis) ̧ bursitis, recurrent sport injuries (e.g. ruptured tendons, ruptured ligaments or ruptured muscles), trigger finger.

Secondary Symptoms
• Dysautonomia (Autonomic problems):  Many EDS-H /JHS patients also suffer from dysfunction of the autonomic nervous system. The autonomic nervous system is the body’s involuntary nervous system, controlling several basic bodily functions. These include heart rate, body temperature, breathing rate, blood pressure, digestion, and the function of the bowel and bladder. Autonomic Dysfunction can cause many symptoms, a few of which are lightheadedness, dizziness, fainting or near fainting, increased or rapid heartbeat. (Please see the 'Dysautonomia/POTS and EDS-H /JHS' section under the 'Additional Information' Section of the main menu)
• Postural Orthostatic Tachycardia Syndrome (POTS): POTs is a subset of dysautonomia, linked to changes in blood pressure and heart rate when changing position e.g. from lying down to standing, or sitting down to standing. Around 60-70% of people with EDS-H /JHS suffer POTS related symptoms; these can include feeling lightheaded and/or dizziness (some will actually faint), feeling suddenly drained or weak, experiencing blurry vision, nausea, finding it difficult to think straight. Sometimes POTs can also trigger symptoms such as cramps, constipation or a feeling of bloatedness. (Please see 'Dysautonomia and EDS-H /JHS' section under 'Additional Information' in the main menu, for more information on this frequently seen set of secondary symptoms)
• Gastrointestinal problems: Laxity of the connective tissue in the stomach and colon can be responsible for many abdominal complaints such as irritable bowl syndrome, diarrhea, constipation, reflux, gas and recurring abdominal pain, sensitivity to certain foods. malabsorbtion and gastroparesis are also frequently seen in those with EDS-H /JHS. (Please see 'The Digestive System and EDS-H /JHS' page, under 'Additional Information' section of this site).
• Hiatial Hernia: Often overlooked by medical practitioners, hiatial hernias are seen at a higher frequency among patients with JHS / EDS-H and should be considered in hypermobile patients who suffer from persistant heartburn.

• Obstetrics and gynaecology problems:  Irregular periods, heavy and, or painful periods, increased joint pain before or during periods, or during pregnancy, premature or rapid labour, pelvic floor instability leading to uterine prolapse and/or incontinence especially after child birth. (Please see the individual sections on  Hormones / Urinary / Gynaecological pages, under 'Additional Information' section of this site).

• Cardiovascular problems: Irregular heartbeat, palpitations, chest pain, poor circulation due to stretchy veins. Some people have blood vessels that are stretchy (due to defective collagen), which allow blood to pool in the abdomen, legs and feet, thus triggering autonomic problems such as Postural Orthostatic Tachycardia syndrome or symptoms of Reynaud's Syndrome.

• Skin Involvement: Stretch marks, often appear between the ages of 11 and 13 years when adolescent growth. The are commonly occur on thighs, loins, breasts, and occasionally shoulders and knees. Some also describe varicose veins. Sometimes slow wound healing may be apparent, easy bruising and abnormal scaring are also often reported.  (please also see the 'Diagnosis by Clinical Assessment page, under the 'EDS-H /JHS Information' section of this site)
• Anxiety disorders: Once thought of as a purely a psychological response to the frequently debilitating nature of the condition itself,  research now shows that this is not the whole picture. Physio-logical causes have now been shown to contribute to anxiety disorders in those with EDS-H /JHS (for further information please see the 'Anxiety and EDS-H /JHS' page, under the 'Additional Information' section of this site)
• Flat feet or fallen arches (Pes plenus) and / or early hallux valgus (bunion) deformity: In a hypermobile foot there is often excess motion cause by pronation. Pes plenus occurs when the strong ligaments that normally support the arch of the foot are overly stretchy and unsupportive, allowing the arches to collapse under the body's weight and the feet pronate inwards. Pes plenus may not be immediately apparent in the non-weight bearing hypermobile patient. The patient should therefore be observed when upright and when walking. Many people with EDS-H /JHS use custom-made orthotic insoles to help correct this imbalance. It is also common to bunion abnormalities and sometimes metatarsal subluxation in hypermobile feet. Foot pronation can cause the first metatarsal bone (in the big toe) to be unstable and move upwards and turn inwards, leading to abnormal tension being applied by the adductor hallicus muscle and a bunion being formed.
• Chronic neck strain: Nearly everyone with EDS-H / JHS is affected by chronic neck strain according to Dr Alan Pocinki MD. He suggests that the two main reasons for this are: ‘The ligaments that are supposed to support the head are too loose and therefore cannot do their job well. The muscles of the neck are forced to do more of the work of supporting the head than they are meant to do, so they become strained. Second, most HMS (EDS-H /JHS) patients have shoulders that are too loose, that is the “ball” of the upper arm is not held tightly in the “socket” of the shoulder. Because of the weakness of the shoulders, almost any activity that uses the arm, including reaching, pushing, pulling, and carrying, pulls not only on the shoulder but also on the neck.’ He goes on to explain that because of these issues the neck muscles are under constant strain, and ‘…what little healing may occur overnight is promptly undone the next day.’ He says he finds that that this process occurs so gradually that many people with HMS (EDS-H /JHS) do not even notice it, and, when asked, they may say, “My neck is fine,” when in fact their necks are a mass of knotted soft tissue, soft tissue that does not feel soft at all!
• Lower back pain:  When the ligaments that normally support the spine and pelvis, and keep them stable, are hypermobile they are too loose and put muscles under extra strain in their effort to try and support the upper body. When the hips are hypermobile the lower back can be put under strain in an attempt to stabilise the pelvis.
• Eyesight:  Myopia (short-sightedness) and blue(ish) sclerae are more common in those with
EDS-H /JHS (please see the 'Ocular and Dental Features' page, under the 'Helpful Information' section of this site for more information)
• Dental problems: higher risk of gum disease, cavities and tooth fracture. Crowded teeth, high narrow palate, Temporomandibula Joint (TMJ) subluxation / dislocation. Pain in the TMJ is also common.  (please also see  'Ocular and Dental Features' page, under the 'Helpful Information' section of this site)
• Osteopenia:  Low bone density.  Several studies show that women with EDS-H have lower bone density than controls (even in young adulthood).  Hypermobility also increases the risk for low bone mass. The cause is likely to involve a number of factors, including an inheritance of a hereditary defect of the connective tissue, which may lead to weakened bone structure, made worse by immobility due to injury or time spent recovering indoors or in hospital, and / or reduced exercise due to pain and or fatigue.  Those with EDS-H /JHS may wish to discuss the prevention of secondary complications (such as osteopenia in EDS-H /JHS) with their medical adviser - for example, supplementing calcium and vitamin D and carrying out low-impact weight-bearing exercise to maximize bone density.
• Local anaesthetics: : Patients with Ehlers-Danlos Syndrome Hypermobile-Type and Joint Hypermobility Syndrome frequently experience problems in obtain sufficient relief from anaesthetic and painkillers. Professor Grahame CBE, MD, FRCP, FACP writes: ‘patients with EDS / JHS do not appear to experience the full anaesthetic affect of lignocaine injections when these are given for dental purposes, minor surgery, or for epidural anaesthesia’. At the moment the most reasonable explanation appears to be that the local anaesthetic solution diffuses away more rapidly from the microenvironment of the site of the injection because of the lax nature of the connective tissues. The same problem is reported by many in relation to topical analgesics such as EMLA cream and alternatives may need to be tried. Many also find that painkillers, which would normally be expected to effectively stop pain, do not work well in people with EDS-H /JHS. A patient should make their pain specialist or anaethetist aware of any problems they may have had in the past.
• Insomnia: Studies such as 'Prevalence of sleep disorders in Ehlers-Danlos syndrome', published in 2012 conclude, that Insomnia can be listed as a criteria symptom amongst patients with hypermobility type EDS. The most frequent complaints are the difficulties of maintaining sleep. Pain and anxiety may influence those sleep disturbance. Restless leg syndrome seems to be more frequent than obstructive sleep apnia syndrome.
• Scoliosis (Curvature of the spine):  Idiopathic scoliosis (scoliosis of unknown cause) is the most common spinal abnormality in children in the general population, but sometimes scoliosis is one part of a syndrome, such as Marfan syndrome or Ehlers-Danlos Syndrome, both of which are inherited connective tissue disorders. This is known as syndromic scoliosis.Scoliosis typically occurs after the age of 10. Girls are more likely than boys to have scoliosis.
• Osteo-arthritis:  Osteoarthritis is reported to occur more often in patients with EDS/JHS and Marfan syndrome. Recently, however, one study showed that hypermobility was not commonly associated with osteoarthritis in a population of postmenopausal women. Further clarification is therefore required to establish whether joint hypermobility is a significant risk factor in the development of osteoarthritis. Degenerative joint disease does, however, occur in those with EDS-H /JHS, at a younger age than in the general population, possibly because of chronic joint instability which results in increased stress on the joints. Osteoarthritic pain develops in later life (again at an earlier age than in the general population) and typically presents as stiffness and aching pain in the joints. Osteoarthritic pain is often made worse by resistance and/or highly repetitive activity.
• Dural Ectasia: Often detected when reviewing spinal MRI’s, Dural ectasia is a widening or ballooning of the dural sac surrounding the spinal cord. It usually occurs in the lumbosacral region, as this is where the cerebrospinal fluid pressure is greatest, but any area of the spinal canal can be affected.Dural Ectasia is a common finding in Marfan syndrome, occurring in 63–92% of people with the syndrome. Dural ectasia also occurs in Ehlers-Danlos Syndrome, neurofibromatosis type I and ankylosing spondylitis. In many people Dural Ectasia causes no symptoms, but for those who do experience symptoms, the most common are headaches, weakness, numbness above and below the involved limb, leg pain. Sometimes rectal and genital pain, bowel and bladder dysfunction, urinary retention or even incontinence may be experienced. Symptoms are usually, but not always relieved when a person lies down.
Comorbidities of Ehlers-Danlos Syndrome Hypermobility Type and Joint Hypermobility Syndrome
Put simply, comorbidities are overlapping conditions - sometimes the links have been established, but, as yet, are under recognised, sometimes they are things that are seen more times than can be coincidental, but, as yet, there has not been enough funding or documented research to categorically prove the link.  Sometimes they can be condition(s) that exist simultaneously, but independently, with another condition.
Below are some of the comorbidities frequently associated with Ehlers-Danlos Hypermobility Syndrome:
• Fibromyalgia:   There has been a great deal of debate as to whether Fibromyalgia is an emotional disorder or a physical disease affecting the muscles. In an article written for the Hypermobility Syndromes Association, Professor Rodney Grahame states ‘the most commonly held view is that Fibromyalgia is a form of the body's distress signal that can emerge in people who have several different and unrelated conditions’.Several studies suggest that there is a strong association between joint hypermobility and fibromyalgia; research is trying to establish whether joint hypermobility may play a part in the mechanism that causes pain in fibromyalgia. (see ‘EDS-H / JHS and Fibromyalgia’ under ‘Additional Information’  in the main menu).
• Raynaud's Syndrome and Chilblains: Raynaud Syndrome occurs at an increased frequency in EDS-H/JHS, which may be another manifestation of the autonomic dysfunction from which many with EDS-H/JHs suffer. The blood supply to certain parts of the body, usually the fingers and toes, is affected, causing them to feel cold and loose colour. In the general population Raynaud’s is usually triggered in cold temperatures, or by anxiety or stress, but various conditions of the blood vessels, joints, muscles, nerves or skin can cause secondary Raynaud's, for example, scleroderma, rheumatoid arthritis, multiple sclerosis, systemic lupus erythematosus, and connective tissue' disorders such as Ehlers-Danlos Syndrome or Marfan Syndrome.Raynaud’s sufferers are also prone to chilblains, which develop on the fingers and toes. These are seen as small, itchy and painful reddish blue swellings, which develop when the skin gets cold, causing the tiny blood vessels to constrict severely.
• (CRPS) Complex Regional Pain Syndrome:  The Mayo Foundation for Medical Education and Research write: ‘Complex regional pain syndrome is an uncommon form of chronic pain that usually affects an arm or leg where the pain is out of proportion to the severity of the initial injury, if any. Pain starts in one limb, but can later present in other limbs, the spine, abdomen and perineum. Constant pain is often felt, even at rest with intermittent exacerbations. Severe pain - burning, tearing, shooting is also described. Temperature and color changes to the limb are common. Edema (swelling due to fluid in the tissues) may be experienced. The area of pain is normally larger than the primary injury. Patients often have a limited range of motion and describe pain on light touch and increased pain to mildly painful stimulus. Sometimes there may also be trophic changes to the limb e.g. nail growth changes (faster, distorted), hair growth changes (coarser, darker, rapid growth, hair falling), skin changes (atrophy of skin) or skin lesions’. Initially the nerves in those with CRPS are affected, but very quickly the problem moves from the nerves into the surrounding Glia Cells, meaning that nerve desensitisation medications are often not effective . If the initial, more conservative forms of treatment, such as physiotherapy and desensitisation techniques do not help, then treatment, which can reach the Glia cells, may need to be considered. The Glia cells constitute 70-80% of all cells in the central nervous system and under normal conditions also form part of the immune system. When these Glia Cells are activated in CRPS they release inflammatory chemicals in the affected limb. Ehlers-Danlos Hypermobility Syndrome is thought to contribute to the development of CRPS in one or more of the following ways: via stretch injury to nerves traversing hypermobile joints, via increased fragility of nerve connective tissue and / or, via nerve trauma from more frequent injuries or surgeries.
Initially the nerves in those with CRPS are affected, but very quickly the problem moves from the nerves into the surrounding Glia Cells, meaning that nerve desensitisation medications are often not effective .  If the initial, more conservative forms of treatment, such as physiotherapy and desensitisation techniques do not help, then treatment, which can reach the Glia cells, may need to be considered.  The Glia cells constitute 70-80% of all cells in the central nervous system and under normal conditions also form part of the immune system.  When these Glia Cells are activated in CRPS they release inflammatory chemicals in the affected limb. Ehlers-Danlos Hypermobility Syndrome is thought to contribute to the development of CRPS in one or more of the following ways: via stretch injury to nerves traversing hypermobile joints, via increased fragility of nerve connective tissue and / or, via nerve trauma from more frequent injuries or surgeries.
• Neuropathy:  Some people with hypermobility also develop neuropathic pain, which may be felt as burning, stinging, tingling, shooting, numbing, etc. Sometimes such pain is caused by disc problems, but often it is quite localized or does not follow the usual patterns of pinched nerves. Conventional nerve testing usually is normal, so these symptoms may be attributed to psychological rather than physical causes. This type of pain also can be particularly difficult to treat  (see 'Pain and EDHS' page, under the 'Additional Information' section of this site).
• Peroneal Nerve Neuropathy:  Lack of sensation in the top-of-the-foot, or foot and ankle, and motor weakness/pain, are the most common characteristics of dysfunction of the common peroneal nerve. The peroneal nerve branches off the sciatic nerve just behind the knee, and goes down the outside of the front of the leg to the top of the foot. It is responsible for supplying sensation over the outside front of the calf as well as most of the top of the foot and toes. Thought to be caused by excessive pressure of tissues surrounding the outer, lower part of the knee/upper calf, how symptoms present themselves and the severity of the symptoms, varies depending on which of its three branches are compressed and at what point. This condition is commonly seen in people who have had knee dislocations, but can also follow surgery or trauma in this area of the body.
• Thorasic Outlet Syndrome (TOS):  Compression is the most common cause of Thoracic Outlet Syndrome. Compression can be caused by enlarged muscle/scar tissue, abnormal muscles in the neck, or an extra rib (known as a cervical rib), or because of a narrowing of the thoracic outlet space between the clavicle and chest wall or in the region where the nerves and blood vessels pass under muscles as they cross the shoulder.
Alternatively however, Hypermobility (looseness) of the scapula (shoulder blade) or glenohumeral joint (shoulder instability) can also create tension or traction on the neurovascular structures in the thoracic outlet region and lead to ‘thoracic outlet-type’ symptoms. Body position, poor posture and carrying out certain overhead activities can also play a role in causing or contributing symptoms. TOS can vary widely in the range of symptoms it can cause. Some patients have minimal discomfort or loss of function, others may be more symptomatic. Similarly, the diagnosis can at times be relatively straightforward but is often difficult and elusive.
Symptoms include pain along the top of the clavicle and shoulder, with pain sometimes spreading along the inside edge of the arm. Occasionally pain spreads into the hand, mostly into the ring and pinky fingers. Numbness and tingling, called paraesthesia, may accompany the pain, especially in the early hours of the morning before it's time to wake up. Symptoms tend to get worse when driving, lifting, carrying, and writing. The arms may also feel tired when held overhead, as when using a blow dryer. It may be harder to hold and grip things, and the hand may feel clumsy.
There are two other forms of TOS, related to compression of the vein or artery, but these are far less common, accounting for only around 5% of cases.
When Doctors are unable to find an obvious cause of ‘TOS-Type’ symptoms on the usual scans, the symptoms are sometimes referred to as ‘disputed thoracic outlet syndrome’. Disputed Thoracic Outlet syndrome usually features:Pain, paresthesia and other subjective discomforts exist withoutreadily affirmable weakness, atrophy, or objective findingsIt is usually encountered in young or middle-aged, healthy, active adults (more women experience symptoms than men). Symptoms often worsened by arm elevation. Acceptance of this group as a diagnostic entity is not universal; critics and proponents are both impassioned in their criticism or support.
• Asthma: Specialists hypothesize that some forms of asthma may be caused by a genetic connective tissue defect. A recent study in the relationship between genes and asthma states: 'Our study supports the theory that asthma is not just a single disease, but a complex of several sub-types that should be genetically mapped and understood individually if we are to prevent and treat the disease properly in future', shows that there is much research to be done in this area.  Changes in the mechanical properties of the bronchial airways and lung parenchyma may underlie the increased tendency of the airways to collapse in asthmatic children.  EDs-H/JHS may lead to persistent childhood wheezing by causing airway collapse through a connective tissue defect that affects the structure of the airways.
• Deviated Nasal Septum:  The nasal septum is made of cartilage (composed of collagen) and divides the two nostrils of the nose. Deviated septum means that the septum is off centre enough to appear visibly crooked and/or make breathing difficult. The main symptom is nasal congestion, which is chronic and usually noticeable more on one side of the nose than the other. People with a deviated septum may snore or suffer from sleep apnea or sinus infections. Other symptoms sometimes noted are frequent unexplained nosebleeds, facial pain in the area of the nose, headaches and postnasal drip. A deviated nasal septum may be present at birth, may occur as a part of aging, or as a result of trauma to the nose. It has a significant appearance as a family trait, and with genetic conditions such as Ehlers-Danlos syndrome, Marfan syndrome and Homocystinuria.
• Ganglion Cysts:  A ganglion cyst is created when there is a weakness in the connective tissue (fascia) over the tendon sheaths, that allows the sheath to bulge out  and fill with synovial fluid, which may cause pain and/or problems with mobility in the joint (often found in the wrists).  Baker's Cysts (behind the knee) are also associated with hypemobility, especially in childhood.
• Growing pains :  Benign nocturnal leg pains, or ‘growing pains’, are a common pain syndrome of childhood and have been linked to underlying joint hypermobility in some children. Researchers postulate that unusual or excessive exercise leads to minor injury or repetitive strain to musculotendinous or ligamentous structures in the lower limbs, which are noticed when children are at rest in the evenings. 
• Multiple Sclerosis(MS), or 'MS like' symptoms:    Studies such as 'Ehlers-Danlos Syndrome and Multiple Sclerosis: a possible association, by Vilisaar, Harikrishnan, M. Suri and Constantinescu indicate that, in the Multiple Sclerosis population, there exists over 10% more Ehlers-Danlos patients than in the normal population. This percentage is even higher if statistics relating to the prevalence of EDS in the population is based on US figures rather than the UK's figures. Studies are indicating a form of external communicating hydrocephalus in the Ehlers-Danlos population, and the hypothesis is that the same type of hydrocephalus may occur in the Multiple Sclerosis population.
• Chronic Fatigue Syndrome (CFS) and Myalgic Encephalomyelitis (ME) Symptoms:
'EDS Support UK explain as follows:  It is becoming apparent that some cases, previously diagnosed as ME / CFS, may instead be symptoms of the chronic fatigue caused by Dysautonomia and Postural Orthostatic Tachycardia Syndrome, resulting from undiagnosed Ehlers-Danlos Syndrome. Some of the 'Fibromyalgia type symptoms' experienced by many ME / CFS sufferers could actually be a symptom of Ehlers-Danlos Syndrome (EDS).'
It is possible, but as yet unproven, that the longstanding argument within the ME / CFS community regarding the benefits, or harm, caused to patient's health, by following a graded exercise plan, could exist because some of those with ME / CFS type symptoms, which do improve through graded exercise, are not actually suffering from ME or CFS at all; they may actually be suffering from Ehlers-Danlos Syndrome & Postural Orthostatic Tachycardia Syndrome (POTS) , but have been misdiagnosed. 
Patients who truly have Myalgic Encephalomyelitis (ME) do not benefit from (and could be harmed by) inappropriate exercise.  Exercise therapies can leave ME patients far more severely ill than they were before and sometimes in need of emergency care.  ME patients that are able to rest adequately in the early stages of the illness have the best prognosis. ME patients must strictly avoid overexertion to have any quality of life.
Patients with fatigue caused by  EDS & POTS can find symptoms improve through graded exercise, which develops muscle power to compensate for defective collagen and thereby improves cardiovascular function.
It seems important  that GPs are alerted to simple protocols for testing all patients presenting with chronic fatigue type symptoms, for positional blood pressure differences (which may indicate Postural Orthostatic Tachycardia Syndrome) and for checking joint hypermobility on the Beighton Score.   
• Allergies and Mast Cell abnormalities:  Studies carried out by Dr Claire Francamano and others, report that patients with EDS have a high prevalence of food allergies when compared with the general population, and a significantly higher incidence of gastrointestinal manifestations, in the cohort studied, when compared with the general population. The presence of food allergies also seems to correlate with gastrointestinal dysfunction in some patients. Of the patients who reported constipation, irritable bowel syndrome, gastroesophageal reflux disease, and/or chronic abdominal pain, many also reported having a food allergy (40%, 42%, 17%, and 20%, respectively).
Mast cells are located in connective tissue, including the skin, the linings of the stomach and intestine, and other sites. They play an important role in helping defend these tissues from disease. By releasing chemical "alarms" such as histamine, mast cells attract other key players of the immune defense system to areas of the body where they are needed.   Mast cells seem to have other roles as well. They gather together around wounds, and may play a part in wound healing.  For example, the typical itching felt around a healing scab may be caused by histamine released by mast cells. Researchers also think mast cells may have a role in the growth of blood vessels.
Some practitioners believe that collagen abnormalities, in those with Ehlers-Danlos Syndrome, may cause mucosal lesions, altering tissue integrity and increasing the chance of larger proteins crossing the mucosal barrier (the gastric lining / mucos coating which stops acid from leaking out) and creating an immunogenic response - this is, as yet, unproven and more research needs to be carried out.  Common symptoms include:  Eyes that feel gritty, sore, watery, or difficulty focusing.  A burning sensation in the mouth, dizziness, palpitations, pre-syncope (i.e. dizzy or almost fainting) intestinal pain in the stomach, bladder pain Chronic fatigue, • feeling cold (common), feeling hot, unexplained sweats,  weight gain • Itchiness that comes and goes, • unprovoked / unpredictable rashes, sores and poor wound healing.
Multiple studies have correlated eosinophilic gastrointestinal disorder and allergic responses (i.e. when people with Mast Cell Activation Disorder were tested, it was found that when their bodies encountered allergens, their eosinophils white blood cells multiplied in abnormal amounts and instead of fighting the harmful allergy they did the opposite, causing inflammation and tissue damage instead.  It was noted that this response along with the classic mast cell tissue degranulation found, produced gastrointestinal disorders similar to those seen in some EDS patients. Better understanding the mechanisms associated with food allergies in patients with EDS may aid in development of effective treatments.
• Migraines & neck strain:   People with lax joints are predisposed to many different kinds of headaches. Migraine headaches are very common, in part because many migraines are triggered by fluctuations in hormone levels or blood pressure, which can be increased by autonomic problems. Headaches from chronic neck strain are also very common and can often turn into migraines. In addition, severe autonomic problems can cause a dehydration or “hangover”-like headache, possibly related to inadequate blood flow. Uncommonly, looseness of the muscles that control the eyes can cause difficulty focusing and eye strain headaches. Temporomadibular Joint problems can also cause headache.
• Chiari Malformations:   (CMs) Structural defects in the cerebellum, the part of the brain that controls balance. Normally the cerebellum and parts of the brain stem sit in an indented space at the lower rear of the skull, above the foramen magnum (a funnel-like opening to the spinal canal). When part of the cerebellum is located below the foramen magnum, it is called a Chiari malformation. CMs can cause headaches, fatigue, muscle weakness in the head and face, difficulty swallowing, dizziness, nausea, impaired co-ordination and Cranial Cervical Instability.  Researchers have found that some individuals with Chiari Type 1 Malformation (CM1) also have EDS (typically Hypermobility Type) - this link is more widely recognised in the United States.
• Tethered Cord:  The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end, or some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated.
Further research is now required to improve the recognition and understanding of the global aspects of EDS-H / JHS and it’s co-morbidities to gain an understanding of how the lives of those with these conditions are affected. Building on these results may enlighten prevention and treatment programs for both children and adults.
                                                                                                           by Claire Smith
References:  For references and information sources used within this site, please see 'References', under 'Resources and Links' on the main menu.!symptoms/c1qvq