By Dr Katherine Shanley
As a child did you ever amuse your friends by contorting your body into strange shapes?
Could you do the splits?
Can you place your hands flat on the floor without bending your knees?
Can you bend your thumb back and touch your forearm?
Do you consider yourself double-jointed?
While these abilities can be interesting and amusing, they suggest some potentially very significant medical conditions including Joint Hypermobility Spectrum Disorder (JHSD) and Ehlers Danlos Syndrome (EDS). I have just spent a weekend in Sydney at the first Australian conference of the Ehlers Danlos Society, learning about joint hypermobility syndromes and the consequences they can have for people and their families. The Ehlers Danlos Society was formed in 1985 with the mission of bringing together medical professionals and patients from around the world, to undertake collaborative research to improve management and care. The conference was fascinating, and I met many interesting people, some of them affected by these diseases. I came home with a much better understanding of how to recognise these conditions early and help people to manage their own conditions better, to prevent ongoing joint damage and many other complications.
Ehlers Danlos Syndrome itself was named in the early 1900’s by two dermatologists - Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France. EDS and JHSD are a closely related group of connective tissue disorders that can be inherited. They are generally characterised by joints that can stretch further than normal, skin that can be stretched further than normal, and tissue fragility. These conditions occur when genetic mistakes happen with the production of collagen in the body, so that it is much weaker than normal. Apparently, we humans have up to thirty different types of collagen in our bodies, and the type of disorder you have depends on which one of these collagen types is affected.
There are currently 13 different subtypes of EDS (12 of which can be specifically identified by genetic testing). There is a separate group of people with some but not all the features of hypermobile EDS – and these are currently classified as JHSD. People’s signs and symptoms depend on which subtype they have. The Classical form is the most easily recognisable, in which people’s joints can move well beyond normal limits and pain and recurrent dislocation is common. Skin can be stretched much further than it should, tears easily and heals poorly, leaving bad scarring. The Classic-like type is similar, but skin heals without scarring. The Cardio-valvular type affects heart valves and usually requires valve replacement surgery. The Vascular type is the most serious, causing weakness in arteries, and can lead to sudden death from arterial or organ rupture. In the Arthrochalasia form of EDS people have very severe hypermobility and recurrent dislocations. The Dermatosparaxis form causes extreme skin laxity and fragility with very easy bruising. In the Kyphoscoliotic form people have severe spinal curvature, very low muscle tone and sometimes congenital hearing loss. Brittle cornea syndrome is an EDS subtype associated with spontaneous corneal rupture. The Spondylodysplastic form causes short stature and intellectual disability. The Musculocontractural form causes severe facial and joint, limb and spinal deformities plus eye and bladder symptoms. The Myopathic form causes severe muscle weakness and a combination of stiffness in some joints, with hypermobility in others. The Periodontal form causes early onset of severe gum inflammation and loss of teeth in childhood and adolescence.
Hypermobile EDS is the most common type and the only one for which the exact genes have yet to be identified. The hypermobility can be quite subtle, and sometimes the more prominent features are muscle pain and severe fatigue, along with difficulties maintaining blood pressure. This type is quite hard to differentiate from JHSD.
The most striking thing for me has been the realisation not only that these conditions are commoner than you might think, but also that they are associated with a lot of symptoms other than joint hypermobility. These often include very severe fatigue, chronic muscle pain, easy bruising, difficulty with blood pressure regulation, bladder problems, sleep issues, problems with nutrition, increased allergies and (not surprisingly) anxiety. If these are not recognised and treated, people’s quality of life really suffers.
In my practice I have over the years had quite a few patients with unexplained fatigue, difficulties with blood pressure maintenance with exercise and heat (especially in Queensland’s summer) and sometimes with easy bruising and other subtle symptoms. These people have often really struggled at school with constant muscle pain and tiredness. Recurrent dislocations and dizziness with exercise make participating in sports quite difficult. They need to sleep more than usual. Often, they get teased, and accused of being lazy or unfit. Because nothing shows up on standard investigations, they very frequently go undiagnosed for many years – if they get diagnosed at all.
So, in addition to questions about hypermobile joints, we doctors should be asking our patients questions like:
Do you feel like fainting every time you exercise?
Do you suffer nausea and dizziness when you get hot?
Do you have chronic unexplained muscle pain?
Are you so tired sometimes that you can’t manage your normal daily activities?
Do you seem to need more sleep than other people?
I attended this conference because I have a couple of adult patients with confirmed Ehlers Danlos Syndrome who were diagnosed late, after a lifetime of suffering repeated undiagnosed problems. EDS and JHSD patients need to be identified in childhood so they can learn how to protect their bodies, especially their joints. I became aware of the difficulty in early diagnosis and the struggle these people go through in trying to get co-ordinated care between the various medical professionals that they need to see. I also realised that I have quite a number of patients who fit the criteria for JHSD who would benefit from a multidisciplinary approach to managing their symptoms. This means getting people under the care of a team including an occupational therapist, physiotherapist, dietician, pain specialist, psychologist and whatever other specialist they need for their particular symptoms. In Queensland we have some public services available for children but the public options for adult patients are limited. However, under the Enhanced Primary Care Plan, GPs can co-ordinate individualised patient-specific teams to manage chronic fatigue, pain, dizziness, bladder issues, anxiety and other symptoms. With the right input from medical experts and fellow patients, people affected by these disorders can get a much better grip on how to negotiate the medical system to get the best care that they need.
For more information visit the Ehlers Danlos Society website at https://www.ehlers-danlos.com/