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ehlers-danlos syndrome (EDS)

ehlers-danlos syndrome (EDS)

Ehlers-Danlos Syndrome (EDS) is an inherited genetic condition in which the connective tissues that supports our skin, tendon, bones, blood vessels and internal organs are malformed. The connective tissue protein collagen, acts to keep the cells together in these structures. The lack of normal collagen causes a range of problems depending on the extent of the damage. About 1 in 5, 000 people in the UK have some type of EDS.

What are the symptoms of ehlers-danlos syndrome (EDS)?

Joint hypermobilty, stretchy skin, fragile skin tissue are common symptoms in all cases of EDS.

Hyper mobile EDS is the most common cause and is characterised by hyper mobility of the joints. The joints also click and can be painful. The mitral valve in the heart is often affected and people also have uterine, rectal or bladder prolapse as well as urinary dysfunction. 

Classical EDS is a rare condition characterised by stretchy fragile skin which can easily split, easy bruising, fragile tissues prone to herniating and prolapsing and hyper mobility. 

Vascular EDS is associated with life threatening complications are the blood vessels and large bowel are weak and prone to rupture. This can lead to internal bleeding, aneurysms, bowl perforations and uterine rupture. 

Kyphoscoliotic EDS is when people have a curvature of the spin starting early childhood and getting worse as they get older. Joints are weak and frequently dislocate. Children have weak muscle tone making it hard to sit and walk. 

What are the causes of ehlers-danlos syndrome (EDS)?

It is a genetic disease caused by a defect in the protein collagen not forming properly. 

How is ehlers-danlos syndrome (EDS) treated?

There is no cure for EDS but medication, surgery and psychological treatment can help manage the symptoms. Pain can be managed by over-the-counter medication or cognitive behavioural therapy (CBT). Medication can also be given to reduce blood pressure as high blood pressure can damage these fragile blood vessels. Surgery can be used to repair joint damage. Physiotherapy can be used to strengthen muscles around a joint to stabilise it and make it less likely to dislocate.

Disclaimer

This article is for information only and should not be used for the diagnosis or treatment of medical conditions. Doctify Limited has used all reasonable care in compiling the information but makes no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. In the event of an emergency, please call 999 for immediate assistance.