Ehlers Danlos Syndrome – What you need to know
Ehlers Danlos Syndrome (EDS)… Sounds close to a spell muttered by Severus Snape when meeting James Potter in the afterlife… if only this rare condition was as straight forward and could’ve been cured by the simple flick of a magic wand combined with a gibberish utterance…
EDS is a rare genetic condition mostly overlooked in the general medical practice, due to the wide reach of symptoms and accompanying complaints. Up until a few years ago, it was thought to only affect one out of 200 000 people. More recent studies though, suggests a much larger population boiling down to one per 5 000 people; this increases the incidence greatly, on even footing with Haemophilia A, for example. This begs the question: why does EDS not receive the same amount of attention?
Most healthcare practitioners, if they’ve heard of the condition before, will immediately correlate the condition with its major symptom: increased joint laxity, or generally referred to ‘double-jointedness’. Unfortunately, this only deepens the issue at hand – getting adequate treatment.
At this stage, research in the field is making great leaps and bounds, with new ideas surfacing every other year. This has led to increased rate of accurate diagnosis, though we are still not at the level we want to be.
Let’s get into a bit of the gritty medical science… EDS is due to faulty gene expression to form collagen and connective tissue, resulting in ‘loose joints’ and other signs and symptoms. What many people forget, is that connective tissue and collagen are found everywhere in the body, not only in ligaments that keeps joints in place. EDS may affect multiple bodily systems, such as vasculature, cardiac function, nervous system function, gastro-intestinal function, etc… Pretty much any and every part of the body.
Currently, no cure exists, and even though research is going strong, the chances of finding a total cure anytime soon, is improbable due to its complex genetic nature. This, however, does not mean there’s no hope; current treatment protocols focuses on prevention of comorbidities and symptomatic treatment. Some great home advice can be found online, a little more on this later…
Many patients with EDS may be branded as hypochondriacs, due to the fact that the condition presents in so many bodily systems. You can imagine how frustrating this must be; knowing there’s something off, but being branded an attention or drug seeker. You’ll have a hard time trying to find someone with EDS who doesn’t have depression or similar psycobiosocial issues affecting their daily lives. Unfortunately, this whole issue is exacerbated by actual Hypochondriacs, who believe they have EDS (seeing that EDS would provide so many excuses/answers), usually with an ulterior motive, such as a disability grant, medical fraud or seeking attention or drugs. You can easily Google the diagnostic criteria on both EDS and Hypochondria and list the similarities, with the difference being that EDS-patients will actually have symptoms. These people make the lives of actual EDS patients ten times harder, seeing that EDS may be mistakenly associated with Hypochondria or other psychological issues. If you visit some of the Facebook EDS Groups, you’ll find thousands of people claiming to have EDS, but when asking them about it, they’ve never been diagnosed and is constantly in legal battles with various entities. These people do more harm than any good; if you ask them to show you their symptoms, it’s clear that that most of their issues stem from other entities; many will have a little bit of laxity in one or two joints, but this does not necessarily qualify you to have an EDS diagnosis. Remember that there are many other conditions with similar features such as joint laxity; also keep in mind that there exists multiple normal anatomical variances that may cause that a few of your joints are hypermobile. If you truly do have EDS, your doctor will pick up something is off, even if he doesn’t know the illness; he will then probably refer you to a specialist that may know a bit more.
EDS is divided by their symptoms, with some types being rare and others
being extremely rare (only a few confirmed cases worldwide). The Hypermobility (Type 3) is the most common form of EDS. The second most common, is Classical (Type 1). The most dangerous type is probably Vasculature (Type 4) EDS. You can go Google the different types yourself.
A positive diagnosis can be made by thorough history taking and physical evaluation. DNA studies can be complimentary to a diagnosis of EDS. Some specialists also take skin samples to confirm suspicions.
Symptoms & associated issues
· Chronic joint subluxations and dislocations
· Anatomical abnormalities such as scoliosis and pes planus (flat feet)
· Early onset osteoarthritis
· Chronic pain which may be applicable to multiple systems
· Mitral valve prolapse and aortic issues
· Rapidly fluctuating blood pressure, especially associated with orthostatic hypotension and POTS (Postural Orthostatic Tachycardia Syndrome)
· Raynaud’s Phenomenon
· Baseline tachycardia
· Chronic fatigue and insomnia
· Major depressive disorder and other psychobiosocial complications
· Increased chance of vasculature issues, especially rupture of arteries or veins
· Urogenital prolapse, a general sign in females
· Thin, stretchy, sensitive skin that is prone to ugly scarring and keloid formation
· Easy bruising and hematoma formation
· Platelet clumping issues, increasing hematoma and bleeding issues
· Irritable Bowel Syndrome
· Insensitivity to local anaesthetics and pain medication (you can imagine how this may further the issue with ‘drug-seeking’ behaviour)
· Delayed healing time
· Swelling of the extremities due to increased laxity of veins, causing pooling of blood due to gravity
As mentioned before, no cure exists right now and treatment is supportive, mostly focusing on limiting symptoms. Note that this is not set in stone, and you should never take any form of drug or supplement without consulting your doctor first! Below is a small list of some of the current ideas and treatment accepted by various healthcare providers and institutes
· Occasional monitoring of the cardiovascular, neurological and gastrointestinal systems may be life-saving if a secondary sign is picked up early enough
· A multi-professional team would be of great benefit, consisting of at least a general practitioner, the patient, the parents (if still a child), a physiotherapist, psychologist and the child’s teachers
· Vitamin C may support optimal collagen production and has been shown to increase the healing rate. A daily dose is advisable
· Omega 3 may increase neurological function and some studies suggests it may help to lubricate joints and decrease inflammation
· Magnesium supplements are used widely for their muscle pain and stiffness reduction. Magnesium may also be supportive for those living with insomnia
· Antidepressants has been used with great success in EDS, especially the types used for chronic pain as well, such as Duloxetine and Amitriptyline; Amitriptyline is also widely used for insomnia. A referral to a psychologist specialising in pain management may also be of great help. This definitely doesn’t mean that your symptoms are all in your head; antidepressants are thought to directly affect pain as well as neural plasticity
· Physiotherapy plays a major role in the management of EDS, but this is a whole new article on its own
· Until recently, bracing and immobilisation was the go-to for lax joints, but recent studies have shown that this could be rather detrimental if not acutely necessary
· Education on the condition is of utmost importance; read up as much as you can!
· Pain management may get very complicated due to the decreased sensitivity to most drugs and the gastrointestinal issues with NSAID’s. In the end, most patients only find relief from opioid drugs; keep the whole ‘opioid crisis’ in mind; now imagine you cannot get the only thing that brings you marginal relief…
· Cannabis may have millions of benefits with EDS in mind; from muscle relaxation, decreased pain and decreased depression to inflammation inhibition. The most valuable strains for EDS are those associated with Indica. Legislation and medical bias plays a major role with cannabis prescriptions for any condition
· Surgery should be kept as the very last resort due to complications with anaesthesia, bleeding and vascular issues. Finding relief with surgery in EDS is rare…
· Avoidance of contact sport to limit probability of dislocations
· General anaerobic exercise is great for general strengthening and increasing endurance
· Beta-blockers may help decrease symptoms associated with tachycardia, fluctuating blood pressure, POTS and anxiety. Studies have proven the beneficial effects, but dosage will be dependent on the individual
· A supportive family is probably the most important part of EDS management. Care should be taken to not indulge a patient though…
Overall, EDS generally has a good prognosis, with most patients living a fulfilling life. Some limitations exist though, such as being unable to partake in some sporting events. In some cases, such as with any form of EDS where the cardiovascular structures are affected, life expectancy may be a bit decreased. Furthermore, pregnancy may pose a life-threatening effect for mothers with vascular symptoms due to the great bleeding risk during labour.
Unfortunately, many living with EDS were not fully educated on the syndrome and are wheelchair or bedbound by the age of 23. Note that this does NOT mean everyone with EDS will end up in these dire situations; with leaps and bounds in research and a correct mindset, you’ll be fine!
So, all in all, EDS may sound alien and weird, with symptoms even alien-er and weird-er. There’s no cure, but you can live a very fulfilling life without missing out on all the good stuff most people enjoy as if second nature (less contact sport, sadly). Some active life choices need to be taken to live life to the maximum.
About the author
PD van Wyk is a young physiotherapist situated in Bloemfontein, South Africa, who’s been diagnosed with severe Classical (Type III) EDS at the age of five. Even from a small age, the most interesting thing to him was how on earth a human worked – from a physical level to a spiritual level. The passion for knowledge drove him straight into the arms of his profession - Physiotherapy.
For any info or consultations, he can be contacted at firstname.lastname@example.org