What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is a genetic disorder of the connective tissue caused by the deficiency in collagen synthesis. A connective tissue provides support and strength to the skin and muscles, but in EDS, the collagen in connective tissue is faulty.

Thus, EDS causes problems with the skin and joints and makes them hyper elastic, fragile and excessively loose. The joints become lose, blood vessels are easily damaged, skin gets easily bruised and the rupture of the internal organs might also happen. Condition in EDS might range from mild to severe to life-threatening and is incurable.

How is Ehlers-Donlos Syndrome Classified?

Majorly, Ehlers-Donlos Syndrome is classified into six major types:

Hypermobility type 3 -- This type of EDS cannot be diagnosed via skin or tissue samples. Rather, it can be diagnosed by making some clinical observations. Symptoms like easy bruising, velvety-smooth skin, mildly hyperextensible skin, and loose, unstable joints, joint dislocations and subluxations are often seen.

Classical types 1 and 2 -- Apart from the joint and cardiac features noted in the first type, this type of EDS is also featured by soft, highly elastic, velvety skin which may tear, bruise, or scar easily and/or be slow to heal, along with the tendency to develop fatty growths in pressure areas.

Vascular type 4 -- it is amongst the most severe form of EDS, where life expectancy is around 48 years only. It is featured by delicate skin, fragile blood vessel walls and organ membranes with a tendency to rupture, along with showing hypermobility in fingers and toes.

Thin translucent skin, arterial/intestinal/uterine fragility or rupture, extensive bruising, characteristic facial appearance (large protruding eyes, small chin, thin nose and lips, lobeless ears) are few other characteristics associated with this type of EDS.

Kyphoscoliosis type 6 -- this is an autonomic recessive defect, which happens due to the deficiency of lysyl hydroxylase enzyme. It is a very rare form of EDS. Progressive scoliosis, progressive severe weakness of muscles, and fragile sclera are few of its symptoms.

Arthrochalasis types 7A and 7B-- Also very rare, it is characteristic of very loose and unstable joints, including the hips, which may lead to early and/or severe osteoarthritis and fractures, and stretchy, fragile skin

Dermatosparaxis type 7C -- Extremely rare, this type of EDS combines loose and unstable joints with extremely fragile skin which loses elasticity.

Causes of Ehlers-Danlos Syndrome

Defects in various genes result in the different forms of EDS. Mutations in these few genes effects the structure, production and processing of the collagen or the proteins interacting with the collagen. This defective collagen results in weakening of the connective tissue in the skin, bones, blood vessels and organs.

An autonomic dominant pattern results in the inheritance of most of the forms of Ehlers-Donlos Syndrome, where only one of the two copies of genes need to be altered to cause this disorder. Meanwhile, a minority of the forms of Ehlers-Donlos Syndrome also need an autonomous recessive pattern, that is both genes need to be altered, in order to cause the disease.

Symptoms of Ehlers-Danlos Syndrome

The symptoms vary from mild to severe depending on the severity of the condition. The symptoms which can be seen usually include increased joint mobility, loose joints that are prone to dislocation, subluxation and are hyper mobile, skin gets easily damaged, bruised and stretched, visual difficulties, peg teeth etc... In the Classic EDS type, the skin forms cigarette-paper-like scars. The serious type of EDS, Vascular EDS, can lead to death by rupturing the blood vessels and organs.

Some cross-over features and symptoms of one or more types of EDS have also been observed, that is many types can have common features. Due to the Ehlers-Donlos Syndrome, some complications may arise like poor wound healing, early onset of osteoarthritis, rupture of blood vessels, hollow organs such as bowel, eyeball, lung etc.

Who's affected by Ehlers-Danlos Syndrome?

It is observed that at least one in five thousand people is affected by Ehlers-Donlos Syndrome. This disease affects all sexes and races equally.

Treatment of Ehlers-Danlos Syndrome

Ehlers-Donlos Syndrome is incurable, though problems can be treated as they arise. Precautionary measure should be taken to reduce accidental trauma, such as protecting the elbows and lower legs against frequent falls. Unstable joints can be given support with the use of braces, while in the long run, a surgery may be required. Regular physiotherapy will help, while an occupational therapy advice might help too. Since the Ehlers-Donlos Syndrome results in physical disfigurement, the person or child suffering from it might also require strong psychological support.

Usually, people can go for genetic counseling, along with going for antenatal tests in order to check and prevent for the Ehlers-Donlos Syndrome.