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Monday, December 1, 2014

Ehlers Danlos Syndrome ( EDS )

What is EDS (Ehlers Danlos Syndrome)


The Ehlers Danlos syndrome (EDS) is a heterogeneous group of congenital disorders in the connective tissue, which is characterised mainly by a skin Hyperextensibility and on movable joints. It influences but also vessels, muscles, ligaments, tendons, and internal organs.

For some types of EDS it is caused by a defective collagen, which is responsible for cohesion and elasticity. For other types, the causes are still unclear. The frequency of occurrence in the population is assumed with a 1: 5,000 to 1: 10,000. There are no differences in appearance between different ethnic groups or genders.

Other names for EDS:

-Ehlers Danlos syndrome Meekeren, Meekeren-Ehlers Danlos syndrome, Van Meekeren syndrome
-Danlos Syndrome
-Fibrodysplasia elastica generalisata cutis hyperelastica
-Dermatolyse
-Rubber Skin, Indian rubber skin
-Tschernogubow syndrome
-Sack-Barabas syndrome

History


It is one of the oldest known causes of bruising and bleeding, which have been recognized by Hippocrates 400 BC. A first case analysis with abnormal skin elasticity of a Spanish man is known by the Dutch surgeon Job Janzoon of Meerkerin 1668. The first comprehensive description of the syndrome with its many facets (skin, joints, scars, etc.) was created in 1891 by the Russian dermatologists Tschernogubow. However, the isolated Russian Empire preserved the general announcement of the study, so Edvard Ehlers with the description of the main relationships with the proposal that hyperextensibility and tearability to designate 1901 Henri-Alexandre Danlos 1908, the skin as cardinal symptoms, the namesake of the syndrome have been.

Diagnosis and symptoms


-Differential diagnoses
-Marfan syndrome Q87.4
-Osteogenesis imperfecta Q87.0
-Stickler syndrome Q87.8
-Achondroplasia (chondrodysplasia) Q77.4
-Rheumatoid arthritis M06
-Fibromyalgia M79.7
-Multiple sclerosis G35
-Hypermobility syndrome
-Growing pains

The diagnosis of rare diseases in general and in particular EDS throws in practice problems. According to a study in 2005, for. Example, received about 25% of those affected their EDS diagnosis, only 28 years after the onset of symptoms.

For an EDS diagnosis Erstformulierung a clinical suspicion is crucial. What matters is the presence of the main criteria according to the Villefrache classification (see above), which is a high sensitivity for the disease. In addition, minor criteria and a positive family history confirm the clinical diagnosis. In practice, however, the design is often different. Most are various symptoms that are unusual in combinations, severity and frequency of occurrence, and thus initiate the search for an explanatory cause. The ignorance of much of the medical profession can be the victims often experience a year-long odyssey to diagnosis.

Ehlers danlos syndrome treatment


For the Ehlers Danlos syndrome, there is no cure. Patients with vascular type are considered most at risk and should be under constant medical supervision. The medical intervention for all EDS types is limited to symptomatic therapy, which can be enumerated in a series of recommendations.

Monitoring of the cardiovascular system, physiotherapy, occupational consideration, orthopedic aids such. As orthoses, bandages or wheelchairs can be helpful. Activities with hyperextension or blocking of the joints should be avoided.

Necessary surgical procedures should be performed with caution. For any necessary anesthetic technique there are several possible difficulties such as difficult airway situations, susceptibility to vascular tears when the system of central venous catheters and massive bleeding events in particular Bagatelloperationen at EDS patients with fragile vessels. A performance of surgical procedures should be performed only in centers with sufficient expertise in the treatment of EDS.

With Bandages most sensitive areas can be protected from injury. Some patients respond to the administration of vitamin C with reduced swelling tendency and improved wound healing. Experiments with bio-engineered skin substitutes for non-healing wounds were successful in individual patients.

Children should be provided with information about EDS, so that they can understand why contact sports or other incriminating leisure activities should be avoided. It is also important to promote postural control early to prevent damage caused by incorrect posture. Family members, teachers and friends should also be actively informed so that they can accept and promote the child if necessary.

Forecast


The outlook for people with EDS depends on the type with which they have been diagnosed. Symptoms vary even within the subtypes and the incidence of complications is from patient to patient. Some have only minor limitations, while others are severely limited by the severity in daily life. Extreme joint instability, pain and spinal deformity can severely limit mobility. Most patients have a normal life expectancy. However, patients are exposed vascular disease at increased risk of serious complications.

EDS is a lifelong condition with mostly progressive course. Affected are facing because of her illness social obstacles. Some patients report fears of serious and painful ruptures, prior to the aggravation of the condition of unemployment because of their physical and emotional burdens and against social exclusion in general. A gene therapy or other approaches to healing are not in sight, studies on this are not known.

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