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Ehlers-danlos syndrome: Treatment, symptoms, advice and help

About ehlers-danlos syndrome

Ehlers-danlos syndrome is a rare genetic disorder resulting from disruption in production of collagen protein which is responsible for formation of connective tissues of the body. As a result, this syndrome is characterised by weakness of supportive structures like skin, bones, ligaments and covering membranes of some internal organs.

Ehlers-danlos syndrome: Incidence, age and sex

Ehlers-danlos syndrome is a rare inherited disorder which is present since birth. It seems to occur with an equal prevalence in both males and females.

Signs and symptoms of ehlers-danlos syndrome: Diagnosis

The clinical features of ehlers-danlos syndrome first appear during early adulthood and is characterised by skin and joint changes. There are different variants of this syndrome and clinical features may vary from mild to severe, depending upon the type of ehlers-danlos syndrome involved.

The skin becomes hyper elastic, very fragile and may also exhibit easy bruising. This bruising results from easy rupture of superficial blood vessels due to the weakened vessel walls and also from failure to clot. Furthermore, the nodular formations may occur under the skin of arms and lower legs. The joints of affected individuals show hyper mobility due to deficient connective tissue. There are increased chances of fractures and dislocations. The spine of affected individuals may show abnormal curvature. Pregnant women with ehlers-danlos syndrome have a high risk of premature delivery.

A detailed physical examination by a specialist may lead to suspicion of ehlers-danlos syndrome which can be confirmed by microscopic examination of biopsy specimen of the skin.

Causes and prevention of ehlers-danlos syndrome

Ehlers-danlos syndrome is a genetic disorder which is autosomal dominant in inheritance. In this disorder, the gene coding for connective tissue, is defective. This results in weakening of connective tissue which is responsible for providing support to the body tissues. The supportive structures including skin, joints, ligaments, walls of blood vessels and covering membranes of internal organs get involved resulting in their increased fragility.

Ehlers-danlos syndrome: Complications

Ehlers-danlos syndrome can lead to serious health hazards involving vital organs of the body. It can lead to valvular heart problems like mitral valve prolapse which may progress to heart failure, if not timely managed. There are high chances of occurrence of hernia or intestinal pouches called diverticula. Furthermore, weakening of the walls of the blood vessels may cause them to rupture and hence bleed.

Ehlers-danlos syndrome: Treatment

Unfortunately, ehlers syndrome has no cure. A multidimensional approach may be required to manage various problems of this complex syndrome. The aim of the treatment is to prevent physical injuries, protect joints and provide supportive care. Orthotic treatment including wheel chairs or braces may be needed in some individuals. The supportive management includes both physical therapy along with preventive care. The individual may be prescribed vitamin C supplements which have shown to reduce the chances of bruising in some individuals. The heart defects need to be evaluated and surgical management considered, if needed. Individuals afflicted with ehlers-danlos syndrome require special care during any surgical procedure, to prevent further injury to fragile tissues and excessive blood loss.

The prognosis of this genetic disorder is quite poor and patients may require lifelong supportive care in individuals who survive.

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