The Ehlers Danlos syndrome (EDS) is a hereditary affection of the connective tissue. Already 13 different types have been diagnosed; the ones that occur the most are the hypermobile type hEDS and the classic type cEDS. There can be overlap between all the types. Main characteristics are hypermobile joints, stretchable and/or soft skin, weakness of the connective tissue, bruising easily and delayed wound healing. Because of these characteristics pain and fatigue are very common complaints. EDS is a rare disorder and although it is hereditary it might take dozens of years before one is diagnosed. EDS is a multi system disease, which means that the complaints do not just occur in the connective tissue around the joints, but can give problems everywhere in the body where connective tissue exists. Therefor, EDS often comes with a fair number of secondary disorders. Heart complaints, digestive complaints, bladder complaints, respiratory problems and eye complaints often occur. Also the teeth can be affected, you can get problems with allergies and dilation of the veins. Only recently it is found that by instability of the neck a number of neurological complaints can occur; you can read more about this under neck complaints.
EDS is a chronic disorder with a progressive character. Although the hereditary deviation itself does not increase in severity, the connective tissue was and stays wrongly laid out, the utterances do increase. If your kneecap goes out about five times a week, you can imagine that the joints, the ligaments and the muscles around the knee are highly affected. Many people with EDS suffer from arthrosis in an early age.
All types of EDS are hereditary; most of them are autosomal dominant. This means that if one of the parents has EDS, the child has a 50% change to get the same type. You can be the first of the family, this is a spontaneous mutation; after that you can pass it on to your future kids. Some types are X-bound recessive, which means that only boys can inherit the disorder. The cause of the EDS-syndromes is often a deviation in the collagen. Collagen is the protein component of the connective tissue and the cartilage and is produced by the connective tissue cells. A connective tissue cell defines how a certain type of collagen is made, if there is a genetic mistake in the code, wrong tissue will be produced. Therefor it is easily torn or over stretched.
No person with EDS is the same, within the same type and within the same family EDS can even express itself very different. Where one member can live a reasonable normal life, the other is totally invalidated. Beforehand it is impossible to say how en when the biggest problems by this syndrome will occur. Most people with EDS will recognise the luxation of the joints with the slightest movements, the daily pain and fatigue and always have bruises everywhere without an explanation. Most types of EDS are not deadly and patients do have a normal life expectancy, except for the vascular type where the average age lays round 45. Unfortunately the consequences of some of the secondary disorders are life threatening. The patient does nit directly dies from EDS, but indirectly he or she sure does.