May is Ehlers-Danlos Syndrome (EDS) awareness month. For those of you who don’t already know, I was diagnosed with EDS late last year after a lifetime of chronic illness. Therefore, I am dedicating this blog post to raising awareness about this elusive condition!
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos Syndrome is a group of inherited connective tissue disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels. The condition is considered rare, and is thought to affect 1 in every 5000 people.
There are six major types of Ehlers-Danlos Syndrome, all of which are caused by a variety of gene mutations that cause problems with the synthesis of collagen. The type of EDS that I have is called Hypermobility type, or type 3. You can learn more about the types of EDS here.
Collagen is a protein which acts as the body’s glue, adding to the strength and elasticity of connective tissue. It is a substance which provides strength and structure to skin, ligaments, muscles, blood vessels and internal organs. Depending on the individual gene mutation that a person with EDS has, the severity of the syndrome can vary from mild to life-threatening.
Symptoms
Faulty or reduced amounts of collagen lead to the symptoms associated with EDS. Symptoms vary widely with type, and can include:
- Loose unstable joints that are prone to sprain, dislocation, subluxation and hyperextension ("double-jointedness"); extreme flexibility**
- Flat feet**
- Highly flexible fingers and toes; arachnodactyly**
- Scoliosis of spine**
- Joint pain without inflammation**
- Myalgia and arthralgia**
- Early onset osteoarthritis**
- Low muscle tone and muscle weakness**
- Unexplained pins and needles or numbness in extremeties**
- Difficulty regulating own body temperature**
- Easily bruised skin**
- Very soft and velvety skin which may be stretchy, and is often translucent, with blue veins clearly visible on limbs and particularly hands**
- Easy scarring
- Stretch marks**
- Poor or abnormal wound healing
- Cardiac problems, such as dysautonomia typically accompanied by valvular heart disease (such as mitral valve prolapse)
- Fragile blood vessels with tendency towards aneurysm
- Fatigue which can be debilitating**
- High and narrow palate, resulting in dental crowding
- Vulnerability to chest and sinus infections**
- Severe mouth ulcers (due to tissue fragility and vulnerability to infection)**
[** = I have them!]
Diagnosis
Diagnosis of EDS often takes years, due to the rarity of the disorder, lack of awareness among medical practitioners, and symptom cross-over with other conditions. Some types of EDS can be identified through genetic testing, skin biopsies and other tests. The diagnosis of Hypermobility type, however, requires clinical observation, a review of the patient’s medical history, scores on the Beighton scale for hypermobility, and assessment of family history (as well as the ruling out of other similar conditions).
I was not diagnosed as having EDS until I was 25 years old, despite having lived with recurrent joint dislocations, easy bruising, and chronic infections for most of my life. The disorder had been “suspected” since I was 11 and first started frequently dislocating joints, but my diagnosis was confirmed by a GP and then a rheumatologist when my symptoms increased in severity. Not knowing that I had EDS was difficult, especially when I was going through school. I seemed to catch every bug that was going around, and I was tired all the time (although I tried very hard to hide it!). I thought that I was just unfit compared to everyone else, and that I had an unusually weak immune system. People used to comment about my visible veins and my alien-like flexible fingers. They would ask if I was being abused because of the bruises I would get (especially on my legs), which was embarrassing. I was called a hypochondriac by some family members, friends, class-mates, teachers and trainers – and they even had me believing that I was weak or crazy for a time. Now that I have a formal diagnosis, I feel like I finally have an answer to why I am like I am. I feel validated, instead of inferior or crazy!
The early diagnosis of Ehlers-Danlos Syndrome is important – especially in identifying life-threatening symptoms such as those present in vascular-type EDS. I believe that health care professionals need to be made aware of this condition so that they might be able to better recognise signs and symptoms that could lead to an earlier diagnosis and treatment for people with EDS. For me, a diagnosis meant that I could learn more about the condition and find ways to help with the management of my symptoms. It also meant that I could be tested for possible heart problems (luckily I just have a fast pulse rate, low blood pressure and a "trivial regurgitation" – which conjures up an interesting image of a spewing heart in my mind...)
Treatment and Prognosis
There is no cure for EDS. Treatment is supportive, focusing on evaluating and treating the individual patient’s symptoms. Personally, I now rely heavily on prescription pain-killers and mobility aids (such as a motorised scooter, wheelchair, walking sticks and crutches). I also have a co-morbid diagnosis of ME/CFS and Fibromyalgia, and I require a full-time carer. I am largely housebound, and during symptom flares, I spend most of my time in bed.
Luckily, I live in a day and age where computers, my iPad and the Internet are freely available to me! This means that when I am stuck at home or in bed, I am still able to connect with the outside world. Dictation software means that even when my hands are too sore or fatigued to type, I can dictate messages! Although, this technology has its limitations, and it is vital that I read through what it thinks I have said before clicking post...
People with EDS generally have a normal lifespan and intelligence. (Although, people with vascular type EDS are at significant risk of major rupture of organs and blood vessels, and therefore have a high risk of sudden death).
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