Once thought to be a rare condition of the connective tissue the Ehlers Danlos Syndrome is now believed to affect 1 in every 5,000 people.
The Ehlers-Danlos Syndrome (EDS) is a group of genetic conditions that have resulted from defects in a collagen molecule which would normally give strength and adhesion to the body's tissues. In many cases the disorder affects the skin and it can become excessively extendible (stretchy), fragile and bruise easily. The joints are often affected with or without skin problems. The ligaments and tendons become extremely lax and this can often result in dislocations and the onset of early degenerative osteoarthritis. Also, the walls of the blood vessels, intestines, uterus and also the foetal membranes may be markedly fragile which can often have severe repercussions.
The healing of both accidental and surgical wounds is frequently very poor leaving dramatic scarring. Other problems often include prolapse of the heart's mitral valve, aneurysms, hernias, and a range of orthopaedic and dental problems. The manner in which it affects patients in degree of severity is extremely unpredictable. Although Ehlers-Danlos Syndrome was once considered to be a fairly rare condition now it is believed to affect 1 in 5,000 people. It affects both men and women with no predisposition to race or ethnicity.
The condition was named after the two doctors who first grouped the symptoms. Edvard Ehlers was a Danish physician specializing in dermatology and Henri-Alexandre Danlos was a doctor at the Hospital Tenon, Paris, France. Although it wasn't until 1936 that Frederich Parkes-Weber proposed that the name "Ehlers-Danlos Syndrome" be applied to the disorder the condition was well known before then. A Spanish sailor known as George Albes was infamous for being able to stretch the skin on his chest out to arm's length. He was even asked to attend a meeting of physicians at the Academy of Leyden to demonstrate his unusual ability.
Up to 1967 the classification of the Ehlers-Danlos Syndrome only covered those symptoms dealing with fragile skin but by 1986 it had been divided into 11 distinct types covering a wide range of varying symptoms. Later in 1997 these were further simplified into six major types.
Classical Type
Patients have hyperextensible (stretchy) skin that scars and bruises easily, some hypermobility of the joints, and smooth velvety skin. They can suffer from sprains, dislocations/subluxations of the joints, flat feet etc along with the risk of hernias and surgical complications.
Hypermobility Type
The main symptom is generalized joint hypermobility although the skin may be involved as well. Often there is chronic pain in the joints and recurring dislocations/subluxations. There is often a family history with this disorder.
Vascular Type
Often thought to be the most serious type of EDS patients have thin transparent skin, the face may be slender with a pinched nose, prominent eyes and ears, there is easy bruising and they're susceptible to rupture of the arteries, intestines and uterus. The joints are often hypermobile, there can be rupture of the tendons and muscles, clubfoot, and varicose veins. The danger with this type is that there is a very high likelihood of early death in the third or fourth decade of life although patients have been known to survive into their fifties. In the family history there will often be sudden death in a close relative or sibling.
Kyphoscoliosis Type
Symptoms include generalized laxity of the joints, extreme hypertonia of the muscles at birth, scoliosis of the spine and scleral fragility. The patient bruises easily due to the fragility of the tissues and there can be arterial rupture and Marfanoid habitus. There will often be a family history.
Arthrochalasia Type
There is extreme general hypermobility of the joints with recurring subluxations. There can be congenital hip dislocation. The skin is hyperextensible; there is easy scarring because of tissue fragility, hypotonia of the muscles, and Kyphoscoliosis.
Dermatosparaxis Type
Symptoms include extreme skin fragility, the skin sags and will be of soft dough like texture. There are often umbilical and inguinal hernias and premature rupture of the foetal membranes in pregnancy.
Testing for Ehlers-Danlos Syndrome is limited although some types can be tested for by skin biopsy. Others require a clinical diagnosis which is usually confirmed by a geneticist who specializes in rare disorders. In the case of EDS the family medical history and patient's symptoms will be taken into account. Many sufferers will have a mixture of symptoms from amongst the types rather than fitting neatly into a predetermined category. The severity of the syndrome can vary even within members of the same family with each person being affected differently.
Up to 1997 the chronic tiredness and pain accompanying EDS were not taken into account in diagnosing the disorder and so many patients were told they were seeking attention and that their condition was "all in the mind". Unfortunately this attitude is still prevalent amongst some members of the medical fraternity. The excessive bruising on youngsters with Ehlers-Danlos Syndrome has often led to the Social Services investigating parents for child abuse. Once the province of the travelling circus and sideshow the media continues to perpetuate the image of EDS as something freakish and unusual by showing sufferers dislocating joints and pulling their skin out to the amusement of television audiences.
There is a network of worldwide support groups that have proved of great benefit to individuals with the Ehlers-Danlos Syndrome. Not only do these organizations put people in touch with others with the same condition they are also vital in providing up to date information to the medical profession and public at large. At this stage there is very little research being undertaken into the disorder but there is some hope that the genetic testing of EDS will be improved and with that breakthrough there may be the chance of an eventual cure.
