Ehlers-Dandos Syndrome

The name of this condition refers to the work of two doctors at the turn of the 20th century. It can vary from the mild to a life threatening effect depending upon the type as the title now covers 6 related closely conditions. Despite the years that have passed since it was discovered and given its name no cure has yet been discovered. It is sometimes referred to as cutis hyperelastica. It is one of a group of connective tissue disorders, all of which are genetically inherited, and which are caused by a flaw in  the process by which the body synthesises the connective tisue protein collagen.The problem may manifest itself  in all connective  tissues such as  the  skin, bone and the circulatory system or it may be restricted to  only a small number  of  isolated tissues. It is an evolving condition , as described by Tallec et al (2006). This means that it produces effects that gradually produce worse effects and sufferers often show  early signs of wear and tear with resulting  fatigue and the development  of chronic pain..  In some types  the person must inherit the mutated gene from both parents, but in other types it can be inherited from only one parent as described  by Shiel on Collagen  enables tissues  to resist deformity and is present in  the skin, muscles, ligaments, arteries and veins as well as major organs such as the liver, lungs and heart.. The syndrome can vary from mild to being life-threatening.

Because there is no true remedy yet available treatment is supportive and includes close cardio vascular monitoring. The Mayo Clinic stresses the need to manage each patients individual signs and symptoms and so try to  prevent the onset of any further complications. Such treatment would include both physical therapy and pain management.

Signs and symptoms 
These reflect the various places in which collagen is to be found and are in general to do with tissue fragility. Joints are unstable and highly flexible and there may be dislocations. Osteoarthritis  may set in at a relativley early age. Club feet and flat feet are both common symptoms.

Because of the extra elasticity muscle tone may be low resulting in weakness. Myalgia is alos present in many cases.

Blood vessels can be fragile, so bruising occurs relatively easily. More seriously major blood vessels may be affected and there may be aneurisms. The skin is smooth and quite easily stretched. Wounds may scar abnormally.

The autonomic nervous system may be involved, which affects such things as the heart valves.

These are the commonest symptoms, but there may be others. There are in fact  6 major types as described by the Ehlers Dalos National Foundation and those with one type will not pass any other kind on to their children. It  is quite a rare condition,affecting on average only one person in 1500 according to research quoted by the Foundation,  and can affect  those of either gender and any ethic background.

Because of the variety  and uncurability of this condition research is relatively rare and tends to focus on a particular type. In 2005 Oderich et al published The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV a 30-year experience. The group  were studying those with the possibility of uterine, intestinal and arterial rupture. The rarity of this type is shown in that they were only studying a total of 31 cases over this extended period.  Their purpose was to consider the spectrum, the management and the clinical outcome in these patients. This was done be retrospectively considering all the available medical data. The results were that the condition was usually diagnosed in youth, the majority developed vascular symptoms and by the age of 60 all but 20 had vascular complications. 3 had died in hospital of hemorrhage. There were 12 deaths, all but one of which were related to vascular or graft problems. The conclusion was that the incidence of postoperative bleeding complications and late graft-related problems was significant.
Such results concerned with such a rare condition have little significance apart from for those individuals concerned, but for them it is obviously very important indeed especially of they know they can pass on the condition to their children..

Another study was carried out by Le Tallec et al in 2006. This was very limited in that only two patients were concerned. Its conclusion though is important.

Surgery may be necessary to correct dislocated joints but is often not sufficient to resolve the handicap, and physical therapy has an important place in management.

For this reason they point out how important it is that physicians are properly aware of this condition so that,  by providing education in  body mechanics and using  various devices, they are better able  prevent the possible joint dislocation and subluxations which in their turn can cause much pain and permanent handicap.

Medical Implications
Modern day treatment must be individualized and it must also be holistic. There is obviously a need for professionals from various disciplines to work together in order to achieve the best possible outcomes. A look at the variety of health professionals included in the medical advisory group of the Elhers Danos Support Group shows how widespread are the implications of having this diagnosis. Professionals from the  varied disciplines of Rheumatology, Speech Therapy, Dermatology, Physiotherapy, Vascular Surgery, Plastic Surgery and Genetics are all included. Yet at the same time this is a rare condition and many doctors will meet it only rarely if at all. It therefore cannot take a large place in any general medical training. This does not however mean that it should be totally ignored and interested groups should make sure that relevant information is readily available when required.

Public  Health  and Social Implications
All children bang themselves, run into things, fall  etc. A child with this syndrome who bruises very easily may cause teachers, social workers etc to ask questions, as they may suspect child battering as described in issue 14, Ehlers-Danlos Support Group. Despite the fact  that there is no known cure, it is therefore very important that, if the condition is suspected formal diagnosis is made using biopsy, in order to prevent accusations and family disruption.

Instabiliy of joints can make writing difficult and some children will need educational support. Children with the condition often love  to be involved in sports because they are, when  young, exceptionally mobile. This has implications for staff who may be worried that they will be blamed if a child is injured or has a dislocation. Teachers who have children in hteir care with this condition need to receive some education on the subject as well as being reassured about possible outcomes.

All types of the syndrome are obviously  rare conditions, some more so than others. This could mean that they arent considered important, but to those concerned the condition can affect many aspects of their lives.  Genetic counseling can therefore be considered as important,  yet many western countries still have no such provision  as a right e.g. Belgium, Bulgaria  and Italy are but three  examples of countries where it is not necessarily available as described on the Eurogentest web page, Harmonizing Genetic Testing Across Europe. It may perhaps be particularly difficult to access in countries where a majority faith does not allow termination.

Rarity means that many doctors have not met patients with the condition and so research is  rare. This puts the onus on those with the condition. Often they will find themselves in the position of knowing more about their condition than some of the  medical staff concerned, as is the case with other genetic connective tissue conditions such as osteo-genesis imperfeta. They need to educate themselves, to join self help groups such as the Ehlers-Dandos Support Group, and to push collectively for more research  and the freer availability of genetic testing and counselling. As has been stated this condition affects people of all classes and types  and all must be involved in  such initiatives if better diagnosis and treatment  is to become available.

Research seems to be almost entirely based upon physical symptoms,  but ethical issues also need to be considered.  Parents may feel pressurized for instance to consider termination if one or both are carriers. Potential parents who are known carriers need to consider the issues before a pregnancy is embarked upon. There needs to be expert advice available  to them in order that they can make educated decisions. Yes, some people do have conditions that are difficult to deal with, some  do die with this condition, but these are only a portion of those affected and they  could also die from many other conditions. None of this means that such  people cannot have full and fulfilled lives.


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