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Ehlers-Danlos Syndrome

It was in a workshop convened in Berlin by Beighton that joint hypermobility with skin changes was classified under the name Ehlers-Danlos. This is the name attached to a group of heritable diseases usually characterized by skin extensibility and tissue fragility, among other things.


In the past, there were ten know types of EDS but later it was narrowed to six types, depending on the symptoms, namely classical, hypermobility, vascular, kyphoscoliosis, anthrochalasia, and dermatoparaxis. But for each type comes the fact that basically, Ehlers-Danlos is caused by collagen deficiency usually in the connective tissues which provides support to many body parts such as the skin, muscles, and ligaments. Fragile, overstretching skin and easily disjointed joints reflects this protein deficiency, as collagen is a protein that acts as "glue", strengthening and elasticizing connective tissues. Up to date, studies show that one out of 5,000 people have inherited EDS from a parent or a first-degree relative.

People with Ehlers-Danlos syndrome have a normal lifespan and intelligence, as compared to those affected by basal cell nevus. However, they are also at the risk of rupturing a major organ or blood vessel, thus, a high risk of sudden death.

Depending on which pat of the body the EDS is more prominent, the symptoms oftentimes differ. An example is the skin. Usually, the skin appears with velvety smooth texture, a overstretching that causes sever scarring, slow and poor wound healing, and the development of molluscoid pseudo tumors, which are lesions associated with scars over pressure areas. If symptoms are on the joints, it is usually characterized by joint hypermobility, loose and unstable joints, thus making one prone to frequent dislocations and/or subluxations, an early onset of osteoarthritis, flat feet, double-jointedness, and hyperextensible joints, which means that it moves beyond its normal range. Other less common manifestations of EDS in the body are arterial/intestinal/uterine fragility or rupture; scoliosis at birth and scleral fragility; chronic, early onset of musculoskeletal pain; poor muscular tone, gum disease, vision problems, and mitral valve elapse.

To know if a patient is suffering from one type of EDS, a doctor would usually conduct tests such as collagen typing, collagen gene mutation testing, lysyl, hyroxylase, or oxidase activity, and echocardiogram, if the heart were involved. This is to determine the type of EDS, aside from its symptoms. It is said that there is no known cure of Ehlers-Danlos. However, with appropriate evaluation and care, a patient could receive regular consultation and therapy based on rehabilitative medicine plus psychological support, which is very helpful to someone battling this syndrome.

 
   
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