Ehlers-Danlos Syndrome is a motley group of heritable connective tissue disorders (HCTD) caused by a variety of gene mutations that impair the structure and function of collagen. Collagen is the main component of connective tissue and the most common protein in the body. It accounts for “approximately 6% of total body weight” (Seeley 1998). It is very strong, flexible and have a microscopic rope-like appearance. Its main function is to provide strength and structural support throughout the body.
The gene mutations in those with EDS are varied and a new set of Diagnostic Criteria has been introduced in 2017 that takes into account specific gene mutations. I have hEDS – the hypermobility type – for which no gene mutation has been identified. EDS is a vastly complex condition with overlapping features between subtypes and other HCTDs and a diagnosis now heavily relies on confirming a known genetic marker – except for hEDS. I have some overlapping features with the classical type and a family history of vascular complications.
I was diagnosed two decades ago and it’s been heartening to see medical expertise and knowledge about the condition vastly improve over the years. hEDS is not the obscure condition it once was and most medical professionals I meet are now, if not familiar with, at least aware of its existence. I never searched for a diagnosis, I just dealt with the symptoms until a diagnosis awkwardly found me thanks to a medical student who were covering rare conditions that term and happen to notice the hallmark symptoms in me and encouraged me to see a specialist in connective tissue disorders who made the diagnosis, along-side POTS and a few other things. Receiving a diagnosis was great, but my day to day struggle didn’t really change. I live with its symptoms and restrictions. My life occurs in the everyday moments outside of a medical realm that I never could navigate well.
It’s impossible to translate into words what life really is like living with a host of chronic, debilitating conditions. There is no answering the question ‘How are you today?’ within a framework most will understand. Every day is a continuous struggle. There are good days and bad days, good weeks and bad, good years and bad. I embrace the days where better is the order of the day and fear the bad days that leave me powerless and ability-less, unable to even do the smallest things for myself. There is no cure. I will never be able to honestly say ‘I’m fine, thank you.’ There is better, but there is no well. And it being a genetic condition, there never has been. I have always been unwell to some degree. Every day of life. I will never know what being well feels like. Few people unaffected by chronic health issues understand what an immense impact that makes on daily life.
Connective tissue disorders are vague things with a myriad of vague symptoms and hEDS is one of the vaguest of all. It’s hard to explain to someone else what it is and how it impacts on every aspect of life. The best I’ve been able to do is to approach it on a symptom by symptom basis. Hand it out blow by blow. Let it sink in. And then, at the end, I ask them to try and add it all up and let it all rush out at once into every second of the day. It is immense. It is relentless. It is forever.
It’s a systemic condition, so let’s talk about symptoms systematically.
Mast Cell Activation Syndrome/Disorder (MCAD/MCAS)
MCAD is not a symptom of EDS, but EDS, POTS and MCAD have recently been linked. Much about the relationship is still unknown, however a link has been fairly well established. MCAD is “an immunological condition in which mast cells inappropriately and excessively release chemical mediators, resulting in a range of chronic symptoms, sometimes including anaphylaxis or near-anaphylaxis attacks.Primary symptoms include cardiovascular, dermatological, gastrointestinal, neurological and respiratory problems.”* As the symptoms closely overlap those of EDS and the two conditions are linked, I’ve included this here.
It wasn’t until recent years that MCAS/MCAD made it onto my radar. It’s a relatively newly recognised condition (first named in 2007) and again, I had not gone looking for a diagnosis, but my medical record is a disaster. The first GP I registered within the UK ignored every single diagnosis and lost all records I had provided from my previous healthcare team and simply wrote in my file that I had ‘hysterical personality disorder’. Calamity followed as what treatment I had received not on the NHS were not linked with the treatments I received on the NHS and with a weird, foreign name often misspelt, records weren’t linked up. I moved house seven times in six years, received treatment at multiple different hospitals and surgeries and by the end of it, there were more holes in my files than a slice of Swiss cheese. On one such move, my new medical team, exasperated by the contradicting jumble of medical notes, decided to reinvestigate my weird asthma, anaphylaxis and wide-spread allergy symptoms and came up with a totally unexpected new conclusion – I had something called Mast Cell Activation Syndrome.
It was the final piece of the puzzle for me. For years I’ve suffered from bizarre symptoms – seizures, fainting, anaphylaxis, episodes of hypothermia, allergies to everything, weird rashes, severe skin flushing, eye problems, chemical intolerances – how I hate perfume – and being cold all the time. I was that person who never wants to get into a bathing suit because (a) put me in a jacuzzi and I turn this alarming patchwork of mottled red and white, (b) i’m likely to faint in hot water and (c) the person next to me is bound to be wearing a strong perfume I find totally incapacitating.
Weird doesn’t begin to describe life with MCAD. I mean who is allergic to cigarette smoke? I’m so sensitive to artificial fragrance that I avoid public spaces where I have to be in close proximity to someone who may be wearing perfume or enjoy a particularly fragrant shampoo or bath soap. I don’t often visit other people in their homes. I can’t shop on eBay because second-hand clothes are scented.
Over many years I’ve been given many plausible explanations for my bizarre symptoms. I was diagnosed with Type 2 Brittle Asthma because my asthma attacks were sudden, severe and life-threatening with little or no symptoms between attacks. I have a laundry list of allergies and intolerances and migraine triggers that include sulphites, MSG and foods high in histamine. My weird anaphylactic episodes were never well explained, but for a while linked with my asthma. In truth, nobody really understood what was wrong with me or how severely it affected me.
The symptoms that I’ve experienced for decades that didn’t neatly fit in anywhere even after my EDS diagnosis, fitted in with MCAS like a glove. Montelukast and Cetirizine have made a significant difference for me and although I still struggle with chronic symptoms as well as regular flare-ups, making lifestyle adjustments and exploring the treatments currently available has definitely lead to a noticeable improvement.
Asthma, Allergy & MCAD, EDS
A clinical study published in 2007, Asthma and airways collapse in two heritable disorders of connective tissue, concluded that “We have demonstrated, for the first time, that individuals with HMS/BJHS and EDS have respiratory symptoms in association with various pulmonary physiological abnormalities. The increased prevalence of asthma may be due to linkage disequilibrium between the genes causing these conditions or a function of the connective tissue defect itself.”
More recently, MCAD has been closely associated with EDS and it comes with respiratory symptoms. I have a family history of severe asthma and had my first severe asthma attack before I was 3. I stopped breathing and was injected with an Epi-Pen. I was later diagnosed with brittle asthma type 2 and my symptoms were text book for over 20 years. I was symptom-free except during the occasional infrequent, maybe once or twice a year, life-threatening attack that progressed within 10-15 minutes to the point where I couldn’t breathe. I was prescribed an Epi-Pen for such occasions to tie me over until emergency services arrived. Sometimes, I needed mechanical ventilation to get me breathing again.
My asthma worsened after relocating to the UK in my twenties. It became debilitating with multiple daily attacks despite being on daily medication without daily medication, I had chronic symptoms all the time. My asthma has finally been well controlled over the last few years under close expert medical supervision and thanks to a combination of histamine-lowering and steroid-based medication. I rarely longer experience chronic symptoms and have not required emergency medical intervention for many years.
My asthma is allergy mediated. I have hay fever and perennial rhinitis with pollen, dust and mould spores being the biggest culprits. I also have a sensitivity to aspirin, non-steroidal anti-inflammatory drugs (common in asthmatics) and completely unrelated allergy to bees, nickel and mercury. What was once thought to be a citrus allergy, we now know thanks to recent research, is that citrus stimulates histamine and due to MCAD, causes an allergic-type reaction. My atypical asthma and allergy symptoms are most likely largely a result of MCAD, but the connections between EDS, MCAD, Asthma and allergy remains largely unexplored.
Lung tissue is fragile and in those with respiratory problems, complications are more likely to occur than in the general population. I’ve had a few chronic and recurrent complications – these include chronic bronchitis most winters, recurrent haemoptysis, pneumonia and pneumothorax, but since my asthma has been well controlled, I have no experienced any significant complications, other than occasional light bleeding*.
* During cold and flu season, I do experience mild haemoptysis, but as soon as I recover from the viral infection, it clears up. My consultant who investigated my lung issues was confident that it’s a self-limiting symptom that does not require medical intervention unless it progresses further, which it hasn’t in many years.
Headache & migraine, chronic pain, chronic fatigue,
Headaches & Migraine
A severe headache is one of my earliest memories. I have been plagued by severe headaches my whole life; at first episodic during childhood, then chronic in my teens. I have a family history of migraine with aura going back multiple generations. I collected quite a few different headache diagnoses in my teens and I do experience a wide range of headache types, from typical tension headaches when my neck muscles are too tight to debilitating migraine attacks with wide-ranging aura symptoms, but it is now clear that headache and migraine is one of those annoying friends of EDS and MCAD (Mast Cell Activation Disorder).
It still isn’t clear whether it’s a secondary or co-morbid condition, but Migraine is definitely more common in those with EDS. Howard P Levy, MD, PhD at Johns Hopkins: “Headaches, especially migraine, are common [Rombaut et al 2010b, Rombaut et al 2011a, Rombaut et al 2011b]. Cervical muscle tension, temporomandibular dysfunction and stress are some of the likely contributing factors.”1 It is also common and exacerbated by MCAD. For me, it is one of the most debilitating symptoms I experience. During a severe migraine, I cannot do anything. I can’t move, even breathing hurts and the pain is so severe that it has caused me to consider (and on occasion attempt) suicide. It is not just a headache.
For me, it is one of the most debilitating symptoms I experience. During a severe migraine, I cannot do anything. I can’t move, even breathing hurts and the pain is so severe that it has caused me to consider (and on occasion attempt) suicide. It is not just a headache. Migraine is a debilitating neurological condition for many, particularly for those, like me, who do not respond or cannot make use of conventional treatments. It is devastating when it becomes chronic.
I experience a transient ischemic attack (TIA) during a migraine when I was in my early twenties, but research indicates that in general, migraine is not a risk factor for having a stroke, except for women <45 years who has migraine with aura and are currently using an oral contraceptive. * Although I often since have experienced TIA-like symptoms during the aura phase, I don’t worry about a stroke risk and feel that at this point in my life, it is no longer a particularly significant risk factor for me.
My migraines were chronic for many years, but in the last few, has returned to being an episodic condition for the most part. I don’t know why, the improvement coincided with starting on Montelukast – which is a well-known treatment for asthma and MCAD. It may be that migraine is becoming less severe as I am getting older – a well-known phenomenon – but I know that I get a migraine whenever MCAD flares up and with Montelukast my immune-related symptoms has vastly improved.
I put the milk in the microwave and the toast in the fridge. I pour the coffee over my cereal. I forget things. Word in particular. The cognitive impact of a systemic condition like EDS (and for me also migraine and MCAD) is often underscored. It’s tricky to focus. It’s difficult to concentrate. Confusion, irritability, poor attention span and impaired memory are symptoms that are difficult to quantify. They’re less obvious than you’d think. It’s more than just forgetting where you put your keys – although there’s a daily search through the house for keys, wallet, phone, glasses, inhalers and shoes. It’s as if my brain prefers running on auto-pilot more often than not. Life feels blurred and out of focus. I think through syrup. As I’m teaching my six year old to recall 9 + 8 =… I realise I don’t remember. ‘You don’t know your number facts, Mum! I thought you were great at math.’
It’s the subtle interference not just with daily living tasks, but it seeps into who I am. It’s not just perception of the external world that becomes foggy and uncertain, but also those private spaces inside your own thoughts and imagination. I forget who I am. I’ve become fuzzy around the edges. My brain isn’t working in rows and columns but a miasma of three-dimensional abstract art.
I read somewhere – I now don’t recall where – that MCAD also creates a sense of anxiety and unease and I certainly experience it first hand. During immune flare-ups, I’m more irritable and anxious and have a sense of impending doom that is so strong I can’t get a restful night’s sleep. My thoughts are more erratic and chaotic and emotions – those tricky things that are not thought but so closely related to it – are heightened. I misinterpret the world, including the emotional underlying subtexts. I feel lost.
It isn’t a pleasant experience. In fact, if I had the ability to truly grasp what was happening at the time it would be a downright terrifying experience, but putting the pieces together always feels just out of my reach and life becomes a blur of impressions rather than a logical process. It isn’t a permanent state of affairs, it’s a process that waxes and wanes, but even on the best of days, concentration, memory and focus are challenging things.
Chronic pain is a persistent symptom of EDS. Different types of pain is present: neuropathic pain, muscular pain and acute episodes of pain with subluxations/dislocations and injuries. Howard P Levy, MD, PhD at Johns Hopkins: “Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychosocially disabling [Sacheti et al 1997, Hagberg et al 2004, Rombaut et al 2010a, Voermans et al 2010a, Rombaut et al 2011a, Rombaut et al 2011b].” I most certainly find it disabling.
Neuropathic pain is usually chronic burning, sharp, stabbing and shooting pain that may be accompanied by allodynia (harmless stimuli, like light touch provoking pain), hyperpathia (a short episode of discomfort causing prolonged severe pain) and hyperalgesia (discomfort, which would otherwise be mild, being felt as severe pain). One of my odd symptoms that fell in place after my EDS diagnosis is burning feet syndrome.
Howard P Levy, MD, PhD at Johns Hopkins: “Neuropathic pain variably described as electric, burning, shooting, numb, tingling, or hot or cold discomfort, may occur in a radicular or peripheral nerve distribution or may appear to localize to an area surrounding one or more joints [Camerota et al 2010]. … One hypothesis is that neuropathic pain may result from direct nerve impingement (e.g., by subluxed vertebrae, herniated discs, vertebral osteoarthritis, or peripheral joint subluxations). In addition, there may be mild-to-moderate nerve compression within areas of myofascial spasm.”
Muscular pain feels different from neuropathic pain. It is the general throbbing aches and pains most people experience when they have the flu, except that it’s more pronounced around and between joints. I was diagnosed with Fibromyalgia, chronic back pain and myofascial pain syndrome prior to EDS and do find that widespread muscular pain is a persistent problem.
Howard P Levy, MD, PhD at Johns Hopkins: “Muscular or myofascial pain, localized around or between joints, often described as aching, throbbing, or stiff in quality, may be attributable to myofascial spasm, and palpable spasm with tender points (consistent with fibromyalgia) is often demonstrable, especially in the paravertebral musculature [Castori et al 2010a, Rombaut et al 2010b, Rombaut et al 2011a, Rombaut et al 2011b]. Myofascial spasm possibly occurs in response to chronic joint instability, but this has not been systematically studied.
Myofascial release often provides temporary relief, but unless you can afford regular myofascial therapy, muscle pain is a daily constant with little relief.
Fatigue is a common and debilitating symptom. Dr Alan Hakim provides more information via the HMSA about chronic fatigue and hypermobility syndromes here. He states that chronic fatigue “is often an overwhelming lack of energy that may appear after even the most minimal activity” and that “The cause for such profound symptoms is unclear and may be related to pain, autonomic dysfunction, and poor sleep patterns and sleep quality. Addressing these issues may help relieve the severity of the fatigue.”
Chronic fatigue is a variable symptom. There are periods where fatigue is minimal and I am able to make it through the day without need a rest whilst at other times, I wake up in the morning and dread having to reach for the light switch on the bedside table. Just moving my hand seem to require more energy than I can muster. For me, chronic fatigue as a symptom is most closely linked to MCAD. I experience severe fatigue during a flare-up alongside the other symptoms and as soon as I step-up my histamine lowering regime, the fatigue is significantly less within 2-3 weeks.
Postural Orthostatic Tachycardia Syndrome (POTS)
Autonomic dysfunction/dysautonomia, POTS (Postural Orthostatic Tachycardia Syndrome) in particular, is closely associated with EDS and in the last 5 – 10 years, an interesting trifecta of POTS, EDS and MCAD have been identified. There are multiple overlapping symptoms between the three conditions and it remains unclear whether one is causative. If you’ve been diagnosed with one of these, it’s generally worth investigating the likelihood of also having the other two.
Common symptoms of POTS include chronic fatigue, dizzy spells and fainting (particularly when changing positions), palpitations and sometimes chest pain and shortness of breath. I started experiencing these symptoms in my teens and found them particularly debilitating during my teens and twenties. Unrelenting fatigue was pervasive. I was initially diagnosed with Chronic Fatigue Syndrome, neurally mediated hypotension, vasovagal syncope and later on Paroxysmal supraventricular tachycardia (PSVT) and Mitral Valve Prolapse. Interestingly, the MVP is intermittent (which is apparently highly unusual). One check-up it’s there and next time it isn’t and then it’s back again.
After seeing a specialist familiar with POTS, I wore a 24-hour event monitor, endured a tilt table test and due to having seizure-like symptoms when I fainted during the test, also had vagal excitation tests whilst under continuous EEG and ECG monitoring. I was then diagnosed with POTS, as well as reflex anoxic seizures, a benign condition that doesn’t require any medication, caused by a reduction in cerebral perfusion by oxygenated blood, usually seen in young children. I think my consultant went out on a limb with that one, but it was the only possible explanation that matched my symptoms and test results at the time – twenty years ago now. I would imagine if I were to be diagnosed today, that the seizures would probably ascribed to MCAD.
Howard P Levy, MD, PhD at Johns Hopkins on POTS:”Many individuals with EDS, hypermobility (and classic) type report atypical chest pain, palpitations at rest or on exertion, and/or orthostatic intolerance with syncope or near syncope [Rowe et al 1999, Gazit et al 2003, Mathias et al 2012]. Holter monitoring usually shows normal sinus rhythm, but sometimes reveals premature atrial complexes or paroxysmal supraventricular tachycardia. Tilt table testing may reveal neurally mediated hypotension (NMH) and/or postural orthostatic tachycardia syndrome (POTS).”1
I no longer experience debilitating dysautonomia and I can tolerate some caffeine consumption at a low level. I do still have episodes that last a few hours to days where symptoms flare up in association with other MCAD symptoms, but never as severe as they used to be. It’s almost always caused by a specific trigger and as soon as address the immune-mediated issue and I rest, drink a lot of water and sort out any electrolyte imbalance, it clears up pretty quickly.
A note on my family history of vascular complications
Vascular complications is not a symptom of hypermobility type EDS. I’ve not had any vascular complications and hopefully never will, but with a family history of vascular symptoms I am aware of the complications and incidents associated with it, like arterial rupture, intestinal rupture, uterine rupture during pregnancy, rarely organ rupture (heart – ventricular rupture, spleen, liver), aortic dilation, dissection of major arteries, stroke, intracranial aneurysmal rupture, spontaneous carotid-cavernous sinus fistula, cervical artery aneurysm, gastrointestinal perforation or rupture. I think it more likely a coincidence than a potential overlap, so it’s not something I’m concerned about.
Joint Instability, hypermobility, subluxations and dislocations
The hallmark symptoms of hEDS is joint instability, hypermobility, subluxations and dislocations. Dislocations and subluxations are not the spectacular event that most people seem to anticipate and medical intervention is usually not required, however that doesn’t make it painless or insignificant. Howard P Levy, MD, PhD at Johns Hopkins: “Joint laxity, instability and excessive joint motion is frequently evident on routine activity, even in the absence of overt subluxation or dislocation.
Subluxations and dislocations are common. They may occur spontaneously or with minimal trauma and can be acutely painful. Reduction often occurs spontaneously or can be accomplished by the affected individual or a friend/family member. For most affected individuals, medical intervention for an acute dislocation is not usually necessary, but pain can last for hours or days after an event.
All sites can be involved, including the extremities, vertebral column, costovertebral and costo-sternal joints, clavicular articulations, and temporomandibular joints.
Sprains or twisting of the ankles and buckling or “giving out” of the knees are common.
Females tend to have more substantial laxity than males.
Younger individuals tend to have more substantial laxity than older individuals [Castori et al 2010a].
I find joint instability, subluxations and dislocations challenging. I spent a long time learning anatomy and was fortunate enough to have a friend who also happened to be a medical professional who helped me figure out what my joints are doing and how best to fix it, so I don’t have to trek down to A&E every time something goes spectacularly wrong. Joints do not just pop out in the traditional way as is seen in trauma, they twist and turn in at various different and weird angles. It isn’t always obvious, but it happens all the time.
For me, something is always out of place. There isn’t a minute in a day where there isn’t a bone that is sticking into soft tissue in a way that it shouldn’t, somewhere in my body. And no, you don’t get used to it, you just learn to live with the discomfort and pain because there is no other choice.
Strong muscles can be recruited to assist ligaments in joint stabilization, which is why it’s so vital to build muscle tone and maintain healthy, strong muscles. I used a wheelchair for many years when the myriad of symptoms was so debilitating that I couldn’t face the additional complexity and pain of having to walk as part of daily life. Prior to that, I was housebound for many years, unable on most days to just make it into the garden without symptoms becoming overwhelming. Between dislocations, POTS symptoms so severe I fainted when I stood up, migraine aggravated by movement and constant dizziness. A wheelchair has been highly detrimental to my musculoskeletal health. Muscles deteriorate and deconditioning at an alarming rate when you have EDS and the only thing that really keeps my joints in place is strong muscles – which is difficult to have when you rarely weight bare.
It’s often commented upon that I must be much better because I walk and assumed that I no longer need any mobility support. This is simply not the case. My joints are no better – they still dislocated regularly and partially dislocated all the time every day. It remains incredibly painful. Last week I taught my six-year old who also has EDS to walk with her hands in her hoodie pockets strategically positioned on her hips so that her hands could help keep her hip joint in place as she walked. It doesn’t work 100%, but enough that you can make it back to the car after a hip dislocation without having to call for the wheelchair. ‘So that’s why you always have your hands in your pockets like that,’ she remarked, ‘it’s because you can’t walk without your hips popping out and it hurts ever so much.’ Yes, indeed.
Walking isn’t fun. It isn’t easy. It’s a huge challenge and it isn’t something I can do whenever I please. There are parts of the day, days of the week, weeks in a year where it simply isn’t possible. Even when it is, it’s very painful and dislocations continue to happen any time and most happen whilst walking (or when falling over when walking). Walking is an extreme sport in our house. It’s lead to dislocated kneecaps, bilateral hip dislocations, shoulder dislocations, spinal dislocations, ankle, feet and toe dislocations. But the reward is so worth it. Getting as much exercise as we can means that joints don’t just ‘fall out’ all the time – even when you’re completely still.
If I had a different lifestyle, I would have to continue to use a wheelchair on a daily basis – but thankfully, I get to choose when and how often I am able to move every day. When I can’t walk, I don’t. When I can, I do. Always just that little bit extra. That small push to build just a little bit more muscle tone. It provides me with a sense of freedom that I appreciate. I enjoy going for a walk. Even if I have to hold my hips in my hands in order to be able to do it.
Impaired proprioception and balance
An often overlooked, invisible symptom is EDS’ impact on balance and proprioception. Proprioception is the unconscious perception of movement and spatial orientation. It is that internal sense of knowing where each part of the body is without looking at it. It’s permanently impaired in those with EDS and can lead to problems with balance and coordination.
I’m clumsy. I walk into things, I struggle to walk well in less light because I’m not sure where I am unless I can see objects around me. I find that I do many things consciously that other people seem to do subconsciously. I can’ t walk on uneven surfaces. I’m useless on snow and perpetually slip in the winter. I am always calculating distances, approximating location and sometimes miss my mouth when I eat, thinking my fork is closer than it actually is. I am not afraid of heights, but I do have a fear of falling, not on level surfaces, but when faced with tall spiral staircases or cliff edges because I’m never sure where the edge actually is.
Howard P Levy, MD, PhD at Johns Hopkins: “Poor balance is common, with an increased incidence of falls and occasionally fear of falling [Rombaut et al 2011c].”
Injuries and complications
Strains, sprains, microscopic tears, ruptures, nerve/vascular compression, head injuries, stress fractures and a hundred other common injuries occur more readily in those with EDS. It’s not too bad if it affects just one joint in one way at any given time, but it’s often multiple issues at the same time. They tend to be recurrent or chronic and injuries take longer to heal and are more likely to develop complications.
My list includes the following and then more that I can’t be bothered to try and recall: Feet and Ankles: Chronic plantar fasciitis, Pes planus, Achilles Tendon Enthesopathy, Achilles tendinitis, Achilles bursitis, Achilles tendon partial/complete tear, recurrent ligamentous sprains, medial plantar nerve entrapment, metatarsal stress fracture, bilateral posterior tibial tendon dysfunction. Knee: Condromalacia Patellae (anterior knee pain), Tibial stress fractures, tibial torsion, suprapatellar bursitis, meniscal tears, fat pad inflammation, patellofemoral syndrome (runner’s knee), ‘shin splints’ and growing pains in childhood, knee sprains, quadriceps tendon partial tears, Osgood-Schlatter Disease, ACL & PCL injuries, Baker’s Cyst. Hips and back:Chronic back pain, lumbar spondylolysis and spondylolisthesis, labral tears, hip bursitis, snapping hip, sacroiliitis, lumbar facet joint syndrome, radiculopathy, piriformis syndrome, sciatica, cervical spondylosis.Shoulder, ribs & SCJ: costochondritis, ‘Seperated shoulder’, Type I and II acromioclavicular joint injuries, acromioclavicular joint sprains, shoulder bursitis, rotator cuff and bicipital tendonitis, adhesive capsulitis (frozen shoulder). Head and Jaw: Temperomandibular joint disorder (TMD), concussion, mild traumatic brain injury, moderate traumatic brain injury. Elbow: cubital tunnel syndrome (bilateral), lateral epicondylitis (Tennis elbow), bursitis. Wrist: Carpal Tunnel Syndrome (bilateral), recurrent ligamentous sprain, digital tendinitis, bilateral swan neck deformities, proximal interphalangeal joint sprains.
I haven’t sought medical treatment for musculoskeletal injuries in a very long time. I just deal with it. In the greater scheme of things, a case of runner’s knee or tennis elbow has become akin to having a cold. I adapt my daily physio program, I check for complications, rest, apply ice, compression and elevation and wait for it to get better again. I have a cupboard filled with customised splints if I need them. An acute injury isn’t very from a dislocated kneecap – which is more common that the common cold – and so for the most part, I don’t really see it as a significant problem, just a short-term annoying extra to deal with.
Soft, velvety, fragile skin
I do appreciate the positive aspects of having smooth and soft skin. The type of skin most people have on their eyelids is the type of skin those with EDS have everywhere. The negative side is that soft, smooth skin is also fragile and delicate. Pulling a plaster off quickly pulls off a layer of skin. My skin is prone to split, tear, blister, ulcerate, chafe and itch. Sunburn happens easily and excessively and so does rashes, scarring and stretch marks. Ehlers-Danlos Support UK has detailed information in an article written by Dr Nigel Burrows MD FRCP, Addenbrooke’s NHS Trust, Cambridge here.
Due to MCAD, it often feels as if I’m allergic to everything. I have a sun allergy (for a while my rheumatologist was convinced I had lupus despite auto-immune test results being negative because I had immune-like flareups and a definite rash whenever my skin was exposed to sunlight, which is common in lupus). I get hives and rashes, Raynaud’s and ulcers – all of which are exacerbated by my soft skin that just isn’t robust enough to withstand the allergic onslaught. It isn’t fun.
I’m always covered in bruises and always have been. I used to think ‘how did that happen’ until my rheumatologist remarked that I bruise spontaneously and so nothing happened. I often have fingers edged into my upper arms when someone grabs me as I was about to fall over or where pressure was applied to relocate a joint. The falling over and bumping into things doesn’t help either. Spontaneous bruising can be a disconcerting symptom, but although unsightly, it’s quite harmless at the mild and moderate levels I experience.
Delayed wound healing & scarring
It takes on average about four times longer for me to heal than the average person. I have had stitches tear out and combined with prolonged bleeding and resistance to local anaesthesia this have made for some interesting trips to A&E. I scar easily. I have some silver lines and more serious injuries have left atrophic scars, i.e. cigarette paper scars. Some fade over months and years whilst others are very permanent.
Temperature dysregulation and cold intolerance
Cold intolerance has been linked with both EDS and MCAD. My body doesn’t adapt to changes in temperature like it should. I am always cold – a symptom of MCAD. In the winter, my skin suffers the worst from cold intolerance. I have acrocyanosis, chillblains, levido reticularis, Raynaud’s Syndrome and complications in the past include developing ulcers and a long time ago, ulcers lead to gangrene on my fingers once. In the summer I don’t do much better. I get heat rashes and a rash after exposed to sunlight. I have hayfever with
In the summer I don’t do much better. I get heat rashes and a rash after exposed to sunlight. I have hayfever with a runny nose and itchy eyes and scratchy throat and my skin issues then lead to sores and bleeding. It’s not uncommon for the skin next to my nose to bleed and scab over from frequent tissue use. My throat becomes raw and starts to bleed. I’m allergic to summer, I’m sure of it.
Higher risk for early onset varicose veins
Associated closely with vascular type EDS, but also common in other types. I have a family history of varicose veins which have lead to superficial thrombophlebitis and deep vein thrombosis in more than one relative. I don’t have varicose veins, but I do wear compression socks and stockings on and off as it alleviates POTS symptoms and hopefully will prevent varicose veins.
Piezogenic papules (tiny herniations of fat around the heel when weight baring) are common but rarely painful and keratosis pilaris (permanent “chicken skin”) may be more common.1 These are the annoying, yet harmless symptoms. It’s not too bad at the top of my arms where it’s rarely visible, but the fascial keratosis pilaris combined with the skin flushing can be rather self-consciousness inducing.
Prolonged bleeding despite normal coagulation status
Characterised by menometrorrhagia, menorrhagia, nosebleeds and other fun stuff; “clinically mimics von Willebrand disease, but von Willebrand factor, platelet number and function, and coagulation factor studies are almost always normal” (Levy,2007). Mostly it’s an annoyance, a paper cut keeps bleeding, but it also increases the risk of excessive bleeding (haemorrhage) when undergoing surgery or suffering serious injuries or less serious, like getting a nosebleed. I used to get servere chronic nosebleed on hot days, but the frequency of these was significantly reduced with surgery.
Hernias and prolapses
Structures and organs in the body are usually surrounded by muscle tissue or a membrane layer. A hernia is when a part of the structure or organ protrudes through the structure that normally contains it. I haven’t had any serious complaints, although diaphragmatic hernias is a recurrent issue. A prolapse is a condition where structures or organs slip out of place because the surrounding tissue weakens and no longer keep it in the position its suppose to be. Again, it’s not something that I’ve had much experience of. I have mitral valve prolapse, a condition in which the mitral valve slips into the left atrium during contraction of the heart chambers allowing some regurgitation.
Digestive problems affect at least half of those with classical and hypermobility EDS and MCAD also comes with significant digestive involvement. It’s again not a single diagnosis with a simple explanation, but a mixture of symptoms associated with gastroesophageal reflux disease, gastritis, gastroparesis, irritable bowel syndrome and diverticulitis. Ehlers-Danlos Support UK has an extensive article on the digestive problems associated with EDS here and the HMSA provide information about Bowel Problems here.
Howard P Levy, MD, PhD at Johns Hopkins:”Functional bowel disorders are common and underrecognized, affecting 33%-67% of individuals with EDS, hypermobility and classic types [Levy et al 1999, Castori et al 2010a].
Gastroesophageal reflux and gastritis may be symptomatic despite maximal doses of proton pump inhibitors with additional H2-blockers and acid-neutralizing medications.
Early satiety and delayed gastric emptying may occur and may be exacerbated by opioid (and other) medications.
Irritable bowel syndrome may manifest with diarrhea and/or constipation, associated with abdominal cramping and rectal mucus.”
More details about the gastrointestinal issues associated with EDS here at ehlers-danlos.org
Digestive symptoms are a bit embaressing and when they flare up, can be rather debilitating.
Vision, Hearing and Speech
Hearing, tinnitus and APD
The bones in the inner ear can also be hypermobile, leading to some hearing loss. Read more about EDS and hearing loss at EDNF. For reasons not yet established, tinnitus and hyperacousis seem to have a higher occurrence in those with EDS. I also have Auditory Processing Disorder caused by a head injury unrelated to EDS.
Swallowing, speech and language disorders
EDS can lead to some speech and language issues, like those outlined in “EDS and Speech and Language Issues” written by Amanda Jenner and Lynne Shields PhD. Articulation problems, swallowing problems, hoarseness/weak voice, fluency and hearing loss/sensitivity are all mentioned. I experience these intermittently and it usually presents problems after the fact rather than function as a barrier. I tend to suffer symptoms, like pain and jaw subluxation/dislocation after long meetings that required a lot of talking which then affects my ability to communicate for a few days afterwards.
One of the reasons I gave up my job that entailed many public speaking events was due to the resultant voice issues it created to the point where I was incapable of talking normally unless I left long periods for recovery in between speaking engagements. Sore throat, hoarseness and clear annunciation are some of the more hidden challenges of living with EDS. Voice issues are usually intermittent, but recurrent and it does limit how much I can talk and communicate on a day-to-day basis. More information from Ehlers-Danlos Support UK here.
I experienced blurred and ‘tunnel vision’ and can have difficulty focusing my eyes, something associated with autonomic problems that can make it difficult to read smaller text sizes or differentiate text against a low contrast background. MCAD also brings visual symptoms – eye discomfort, recurrent conjunctivitis and the well-known itchy, tearing eyes of allergies. I also started having problems with large floaters in my visual field in my teens, confirmed by an opthalmologist to be harmless, but that can be very distracting at times as it fills more than 70% of my vision.
I have visual migraine auras, but these symptoms usually last for less than an hour and only occur preceding a migraine attack. On the strange side of things, I can also see through my eyelids to the point where if someone holds up a number of fingers I can tell them how many I see. It also means that I struggle to sleep if rooms are not dark. My husband also insists that I have mutant genes because I can see in the dark. I have not come across any literature about night vision (or seeing through one’s eyelids) and EDS, but I can definitely can see better in the dark than anyone I know and so can my daughter.
I have photophobia that ranges from moderate to severe. At the best of times, my eyes are light sensitive despite my best attempts to live in brighter spaces and due to migraine, fluorescent light, flickering and flashing is not something I can tolerate.
Chronic pain often disrupts sleep and joint issues occur regularly during the night. I have issues falling asleep and go through periods where insomnia is a persistent problem. I sublux joints and dislocate kneecaps turning over in bed, have bad dreams and wake up frequently throughout the night and then I can’t get back to sleep afterwards. Migraine headaches start in the early morning hours, disrupting sleep and asthma symptoms are more prevalent during the night. Allergy symptoms often flare up during the night and during immune flare-ups, I get severe heartburn and digestive symptoms that disrupt sleep as well as the typical allergy symptoms also not condusice to a good night’s sleep.
Various sleep disorders are common in those with EDS. I don’t consider the diagnosis I have compiled over many years particularly significant, like bruxism, nocturnal myoclonus/periodic limb movement disorder, sleep paralysis and restless leg syndrome (RLS) as again, I think it is all symptomatic of EDS. It does make it challenging to fall asleep and remain asleep for long enough so that sleep can be restful.
I have a history of severe depression and it is a common co-morbid condition to EDS, MCAD, POTS and chronic pain. Howard P Levy, MD, PhD at Johns Hopkins:
“Validation of the affected individual’s symptoms can be immensely helpful, as many with EDS, hypermobility type have been accused of malingering or diagnosed with primary psychiatric disorders by previous physicians…
Depression is a common result of the chronic pain, disability, and other complications. Psychological and/or pain-oriented counseling can improve adaptation to and acceptance of these issues and the necessary physical limitations. Cognitive behavioral therapy can be particularly beneficial, but requires active patient participation [Baeza-Velasco et al 2011].”
I have received extensive Cognitive Behavioural Therapy, tried a large variety of anti-depressants over many years (none helped me) and have attended more than one pain management clinic which had limited value. Like many with EDS, I have been accused of malingering, attention-seeking and exaggeration, not just before my EDS diagnosis, but also afterwards by medical professionals either unfamiliar with EDS or physiotherapists/occupational therapists who did not take invisible or intermittent symptoms (which were absent at the time of an assessment) into account. It is a devastating and traumatic experience.
I freely admit that I do have mental health issues and that particularly before and immediately after I was diagnosed, I had significant issues coming to terms with all the physical symptoms that impact on daily living, but I also do have a serious physical condition that is not imaginary. I received counselling for many years to overcome these issues and learn to live well with a chronic health condition, but every time I am accused of exaggeration and malingering yet again and have my opinion discounted because of it, I really struggle to remain positive and employ the coping strategies I have learned.
Generalised Anxiety Disorder
I was diagnosed with Generalised Anxiety Disorder and Panic Disorder as a teenager, prior to being diagnosed with EDS and POTS. The main source of my anxiety is around doctors, assessments and medical reports due to the fact that I have been subjected to assessments, tests and medical judgements my whole life and many have been unpleasant. I have been described as uncooperative, attention-seeking, hysterical, exaggerating my symptoms and malingering. I have been told by professionals who have only met me once or twice after looking at my (incomplete) medical notes, which it turns out is missing many key reports and information, basically that I cannot possibly be as severely affected as I say I am.
Despite being diagnosed with Auditory Processing Disorder, I manage reasonably well in face to face meetings due to extensive therapy, acoustic training, lip reading classes and other coping strategies, but struggle communicating without visual cues and a personal assistant. As a result, I do not use the phone and usually ask to have someone else present in a meeting. I have been told that no hearing impairment can be observed in one to one meetings and therefore I should not have any difficulty using the phone and should not require an assistant in medical meetings. I have been discounted, disbelieved and treated with a healthy amount of antagonism and animosity. Instances like these exacerbate my anxiety. I am a pretty anxious person by nature. I am generally terrified of health professionals and medical appointments.
OCD Obsessive Compulsive Disorder
I have OCD . I have always had OCD. I am reasonably high functioning for someone with OCD due to learning some excellent coping strategies from a brilliant therapist and because I have daily help curbing both obsession and compulsion.
I check things. Everything. Taps, switches, oven knobs, windows, door locks, the kettle, the toaster, the TV, my computer, my phone, my laptop, car doors, candles, directions, instructions, the mail, anything I write or say, my wallet, my phone apps, my bag, my inhalers, my medication, my symptoms, whether I can still bend my fingers. I check things until my fingers bleed or dislocate so many times from pushing buttons that I can’t bend them anymore.
I count things. Everything. I always have some equation in my head that I am trying to balance with environmental cues and until I do, I stay in one place. I don’t walk through doors until I’ve balanced out the door panels and frame. I don’t get into a vehicle until I have added up the number of straight lines it has. I count steps and often take an extra step or two to reach the right number in my head. I’ve walked around the school when picking up my daughter because I needed the numbers to add up before I could go inside and they just wouldn’t add up so I had to start over and walk a similar distance around the school as from the car park to the gate. I work out the volume capacity of each glass or mug I use. I calculate everything.
In a two-week CBT program as a child I learned a new skill. Stop at three. I did very well. I stopped checking endlessly. Instead of checking, I began to plan for all eventualities. I had a fire escape route and I always know the emergency procedures and all the fire exists for anywhere we go. I look it up before we even get there. I started packing a bag of useful things – at one point I learned lockpicking so that in case I forgot my keys (and I couldn’t check if I had them after three times), I would be able to get into my house. For a while I became a zombie apocalypse expert because this was something that could actually happen.
I learned the joy of redundancy. I build in redundancy. My daughter was able to say redundancy before she was 2. I can’t function without redundancy.
I still check things. I still worry. I worry that I only think I checked it but actually didn’t. I worry that in checking something I caused the spark that is going to burn down the house. You see I don’t just check, I have to turn switches to make sure. I turn on the kettle to make sure it was turned off before, but then I worry that maybe the second time I didn’t turn if off again, so I have to check again.
Lucky for me, my husband came along. Someone I can trust. He now has a list of check-lists and when I get anxious, I ask, did you check everything, is it all okay? And if he says yes, I trust him. I trust him even when I feel like I don’t want to trust him.
I still ruminate. I write a lot. I talk a lot. I worry about what I type. I worry about every single conversation I have for days, months, years afterwards. I go over and over it in my head until I can’t sleep or eat or relax. Did I get it right? Did I accidentally lie? Did I exaggerate? I hate exaggeration. Was I clear? Was I precise? What did the other person think of me? Did they think I was crazy? Weird? Lying? Looking for attention? Did they notice that I count things? Did they notice that I couldn’t understand them?
I count. I have little patterns I follow in my head. Loops I make up. Steps to complete before I can move on. I have to reach certain numbers in certain ways before I can leave a room. I have little rituals, small mathematical tricks always running through the back of my mind and I can’t imagine life without them. I count. I am always counting. I have never been able to stop.
I have learned to live with my OCD with my main coping mechanism being my husband who is there 24-hours every day to keep me on track. To make sure I don’t go down the rabbit hole and loose my life. I am very lucky.
Despite technically having dozens of diagnoses, I think I really only have one condition: EDS-HT. The only possible exceptions is a nickle and mercury allergy (confirmed with allergy testing), APD (Auditory Processing Disorder) and that I was diagnosed with a biopsy with IgA Nephropathy in childhood, but after a few flare ups that responded well to steroids, I have been asymptomatic for years. I think all my symptoms are in some way related to EDS.
Diagnoses prior to EDS
I was diagnosed with Chronic Fatigue Syndrome, Fibromyalgia, Somatization Disorder (and other similar psychiatric diagnoses) prior to my EDS diagnosis.
Dr Levy states: “Affected individuals are often diagnosed with chronic fatigue syndrome, fibromyalgia, depression, hypochondriasis, and/or malingering prior to recognition of joint laxity and establishment of the correct underlying diagnosis” and that “”A subset of individuals with fibromyalgia and/or chronic fatigue syndrome may have EDS as the underlying etiology.”
I don’t think I am faking the level of pain, fatigue and disability EDS has caused, I don’t think I exaggerate my symptoms or their impact, but I also don’t think mental and physical health can be compartmentalized.
I think there is always a mental health component to physical symptoms (pain is worse when I’m feeling depressed) and always a physical component to mental health symptoms.
I think that from the person actually experiencing these symptoms’ point of view, there is no real distinction between different conditions, it is all just a part of who I am and I don’t have any prejudices toward physical vs mental health conditions or symptoms. I think they are equally valid, but I do think that diagnosing people with labels that says I don’t believe you are in as much pain/disability as you think/say, is rubbish.
Further Reading on EDS
- Ehlers-Danlos Syndrome, Hypermobility Type, written by Howard P Levy, MD, PhD, Johns Hopkins University School of Medicine
- Ehlers-Danlos Hypermobility Type FAQs EDNF – Answers many questions about associated conditions like Migraine and POTS based on medical research articles.
- DWP “Joint Hypermobility Syndrome”
- The clinical presentation of Ehlers-Danlos Syndrome – useful information for babies and toddlers with EDS
- NHS Choices: Joint Hypermobility Syndrome/ EDS Hypermobility Type
- ‘Ehlers-Danlos Syndrome, Vascular Type‘, Pepin, Byers, 2006.
- Hypermobility Syndromes Association (HSMA): Help & Advice
This article was last update on 26 January 2017.