Sunday 4 November 2012

Just what is Ehlers-Danlos Syndrome??

Dear Diary,
I have just realised that I haven't yet explained what E.D.S. is so now is the time for me to do so. The information I’m about to tell you is generalised, as I luckily don’t have all of the following symptoms however I do have the majority of them though. You will see how greedy my body is!
 
Ehlers-Danlos Syndrome (E.D.S) is a varied group of heritable conditions of connective tissue, characterised by skin extensibility, joint hypermobility and tissue (nerves and muscle) fragility. There are various types of E.D.S which are classified according to symptoms and signs.
 
The syndrome is caused by a defect in a protein called collagen (you may have heard collagen being used in plastic surgery eg, for making the skin look younger etc). It is the main part of the body providing strength and support, such as ligaments, tendons and cartilage. When the collagen is defective, it can induce problems throughout the body.
 
E.D.S can affect both males and females. It is however, quite rare. To diagnose the syndrome, a skin biopsy (a removal of a sample of tissue) and this should confirm the diagnosis and also determine the type.
 
Life expectancy with an E.D.S sufferer can vary on the type they have. One type, the Vascular Type can be shorter due to the rupture (burst/tear) of large blood and the major organs. Pregnancy can be life-threatening in the Classical Type and the Vascular Type.
 
Symptoms can also vary depending on the type. The skin can be easily torn and it is very stretchy. Folds of the skin at the inner of the eyes which make the nose look broader. The sufferer may have little lumps which develop over pressure points such as the elbows and knees. Varicose veins is common amongst many types of E.D.S. than in the general population.
 
 
 
 
The joints are hypermobile (double-jointed) due to the ligaments being extra elastic (stretchy). This makes them more prone to subluxation (partly) and dislocation of which is a regular occurrence for the sufferer, this can happen without any trauma (unlike someone without E.D.S). There is a lot of pain and discomfort for the sufferer too.
 
 
 
 
Bruising is easily caused and doesn’t necessarily need much trauma. It tends to take longer to heal.
 
Less common features such as arterial, uterine and intestinal ruptures may occur due to the frailty of tissues. Inguinal (in the groin area) and hiatus (an opening in an organ for example the diaphragm) are fairly common. Curvature of the spine (Scoliosis) may be present at birth or later on in life. Even gum disease can be a symptom. Gastrointestinal diverticula (the stomach and intestines) where a pouch or sac in the lining of the membrane of a hollow organ such as the intestines etc, that is produced in the bowel when the bowel muscle ruptures the bowel wall.
 
The treatment depends on the presenting symptoms. If simple precautionary measures are made, it will greatly lessen the chance of any trauma, scarring and bruising. Surgery and skin suture (a piece of material used to close a wound or to connect tissues) should be taken with immense care as fragile tissues may tear. Sutures ought to be left in longer than normal. The sufferer may be advised to wear supportive aids such as braces to support unstable joints. In some cases, orthopaedic surgery may be necessary but is unfortunately not always successful. Physiotherapy and occupational therapy may help.
 
There are also psychological problems that may occur with a E.D.S sufferer.
What I have just told you, is the simplest way of explaining the condition as it is so complicated. I am sure that you will have by now assumed some of the symptoms that I have by reading my previous diary posts. I'm going to list you my current conditions: Scoliosis (double curvature of the spine) - Osteoporosis - Perniosis - Arthritis - Arthralgia. (These are in the order of being diagnosed with each one.) 
I know other E.D.S.ers have other related conditions such as Fibromyalgia but touch wood, I haven't been diagnosed with this (yet ha ha!) 
I hope I have answered your question of what E.D.S. is and if you have any questions, please don't hestitate to contact me. Maybe you would like to me explain my other conditions sometime? If so, then let me know but for now, I think I have bombarded you enough. :-) 
Today has not been too bad for pain which I can smile about. I just hope that I manage to sleep better tonight as I have been feeling pretty tired out this weekend.  
Goodnight Diary xx

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