Ehlers Danlos syndrome is a genetic disorder which affects proper development of tissues that make up blood vessels, skin and joint. The disorder is in fact quite rare and there are several variations of the syndrome. All variations of Ehlers Danlos affect the joint followed by the skin. The typical features of this syndrome include very flexible joints with marked range of joint movement. The skin is also quite stretchable and fragile. People with Ehlers Danlos syndrome are quite prone to hernia because the tissues are weak. Other features include weak muscles, easy bruising and because the blood vessels are thin rupture is a frequent occurrence. In adulthood, many develop leaky heart valves.
No one knows why this disorder occurs but is believed to be due to a genetic mutation(s) that leads to disruption of normal growth of collagen. Ehlers Danlos is easy to diagnose by genetic testing and a skin biopsy. Because of the weak collagen, individuals afflicted with Ehlers Danlos syndrome often develop chronic joint pain, early scars, hernias, premature wrinkles and photo aged skin, eye problems but the most dangerous is rupture of the weakened blood vessels.
Unfortunately, treatment of EHD is not effective. There is no drug that can reverse the disorder. Because of fragile tissues, all surgery must be carefully planned. Those who develop kyphoscoliosis may need long term physical therapy, braces, pain control and are encouraged to take vitamins and calcium. Genetic counseling is recommended for those who have a family history of this disorder