Ehlers-Danlos Syndrome (EDS) is collection of inherited conditions which can present in a number of different ways and is estimated to affect more than 1 in every 5000 people. The syndrome affects the collagen proteins which are an essential part of healthy skin, joints, connective tissues and organs. This means that many of those affected by the syndrome experience 'loose' joints, tissue disorders, skin issues such as tearing and scarring and chronic pain. Another common issue is fatigue and extreme tiredness which can leave some sufferers struggling to conserve energy and maintain an active lifestyle. The prognosis for those affected by this syndrome can vary hugely between sufferers and depending on which 'type' is diagnosed. Most types of EDS can now be accurately pinpointed through diagnostic and genetic testing, however there is no such test available for hypermobility type EDS.
Classical EDS is often characterised by skin hyperextensibility, joint hypermobility, superficial bruising and tissue disorders which can lead to problem scarring.
Ehlers-Danlos Syndrome hypermobility type is the only form of this syndrome which does not have a definitive diagnostic test. Those affected often experience generalised joint hypermobility, recurrent dislocations, chronic pain and skin hyperextensibility. Sufferers are often tall, and many share the marfanoid body shape which can be seen in other types of EDS. Hypermobility type EDS is the most common form of the syndrome, and has been linked to some delays in walking and motor function in some children.
Vascular EDS is often a more serious diagnosis as this type is associated with more serious risks of the syndrome, such as vascular degeneration, problems with the connective tissues and uterine or intestinal rupture. Other symptoms may include varicose veins, club feet, easy bruising and hypermobility of some joints. Some professionals who work with those experiencing Ehlers-Danlos Syndrome also talk about a characteristic facial appearance which can indicate that diagnostic tests might be appropriate.
Unfortunately vascular type EDS is associated with a reduced life expectancy of between 40 - 48 years, and is linked to significant morbidity in pregnancy for expectant women with this condition. This is due to the fact that rupture of an artery, uterus or colon can occur at any time in those affected by vascular type EDS, and arterial aneurisms are a further risk.
This is often diagnosed during infancy as many of the characteristic traits become apparent soon after birth. These include severe muscle hypotonia (weakness) and scoliosis (curvature of the spine) present at birth, tissue disorders, marfanoid body shape (tall and slender with long limbs), motor delay and easy bruising.
Those affected by arthrochalasia type EDS are often short in stature and may not have the marfanoid body shape which can be typical of other EDS types. Common traits include congenital bilateral hip dislocation, severe and generalised hypermobility of the joints, skin hyperextensibility, skin fragility and repeated dislocations.
Formerly seen as a variation on EDS type VII, those affected by dermatospraxis type EDS often experience tissue disorders such as severe skin fragility and sagging along with easy bruising.
Unfortunately many people experiencing EDS, of whichever type, may have issues with skin healing and excessive bleeding. This can be a particular cause for concern whenever these individuals need to have an operation as recovery can take much longer and the scar tissue may be painful, fragile or prone to breaking down. It's therefore essential to inform all medical and clinical staff of an EDS diagnosis in order to allow them to be more observant and take sensible precautions.
Pregnancy can also be a difficult time for expectant women with EDS, and may be a trigger for the worsening of some symptoms, particularly joint hypermobility and fatigue. Pregnant women with vascular EDS should inform their doctor as soon as possible as there is a higher risk of uterine rupture, an extremely serious complication which if left untreated can lead to death.
Unfortunately there is no 'cure' for the inherited condition of Ehlers-Danlos Syndrome and treatment is focussed on pain management, reducing symptoms, limiting further damage to the connective tissues and supporting independent living wherever possible. As the connective tissues become affected by the syndrome, sufferers often expect their symptoms to become progressively worse; however there have been some medical and social interventions which have helped to reduce these issues. The aim is to enable people to 'live with' the condition using a range of interventions including pain relief, energy conserving techniques, physiotherapy and occupational therapy, exercise, home adaptations and improving access to mobility aids. Support groups play an important role in providing post-diagnosis support and information, as well as signposting to other services which may be able to offer further help.
As EDS is an inherited condition, many people affected worry about their family and whether they too will experience this syndrome. Recently it has become possible to undertake genetic screening for all forms of EDS except hypermobility type, and a visit to a geneticist or genetic counsellor may be able to further assist families who are seeking more information. These visits will often involve giving a medical history as well as a history of childhood milestones, demonstrating any hypermobile joints, the examination of any scars, giving a blood sample and sometimes a small skin biopsy. Speaking to a specialist often enables families to get a clearer picture of the potential issues and risks, as well as helping them to plan more effectively for the likely eventualities.