Ehlers-Danlos - closer to home than you might think

This month is Ehlers Danlos syndrome Awareness Month - and it needs some awareness. You may think you've never seen it, let alone heard of it. But remember that 'double-jointed' chap from your teenage years whose party trick was putting both legs behind his neck, or contorting his hands in a way that made you feel just a little bit sick? He may well have had Ehlers-Danlos without even knowing it. The trouble is, there's more to Ehlers-Danlos than party tricks - and some of the consequences can be serious.

Ehlers-Danlos syndrome is an 'umbrella' term for a group of six uncommon, inherited conditions that affect the tendons, ligaments, skin, blood vessels and sometimes the internal organs. All these are made up at least partly of a protein called collagen. It's one of the main building blocks of the body, tough/stretchy body tissue that holds the various bits of your body in place and provides strength and support. The different versions of Ehlers-Danlos are caused by faults in different genes that code for various forms of collagen. They can result in either having less collagen, or connective tissue being weaker, or both.

Nobody knows exactly how many people are affected by Ehlers-Danlos, but it's thought to be in the region of about one in 5,000. People of Afro-Caribbean descent are more likely to be affected. However, because many people with the most common kind of Ehlers-Danlos, the hypermobile variety, are never formally diagnosed, the real figures may be much higher. Men have the hypermobile type less often than women

Along with hypermobile joints, sufferers may have very stretchy, fragile skin. They're more prone to skin damage, and any cuts often take much longer to heal than normal and may lead to scarring. They may have vertical folds along the inner edges of the eyelids (called epicanthic folds) and small nodules, about the size and texture of ball bearings, under the skin. They're more prone to varicose veins and may bruise very easily, from minor trauma.

Because there's so much collagen inside your body, several body organs are at risk, too. In the heart, it may result in the valves not working properly, so blood can move backwards as well as forwards. The most common valve abnormality in Ehlers-Danlos is mitral valve prolapse. Hypermobile joints are very prone to dislocating and can lead to long-term pain.

Vascular Ehlers-Danlos is rarer than other types of the syndrome, but it's usually considered the most serious. Major blood vessels inside the body can break open, leading to life-threatening bleeding. Many people with Ehlers-Danlos also suffer from psychological problems such as depression or anxiety, which can be brought on by chronic pain.

Diagnosis can be a challenge - because it's not common, non-specialist doctors may not think of it. If you think you may be affected, talk to your family about whether they've had problems with their joints or skin. If your GP suspects the diagnosis, they should refer you to a specialist who may want to take a skin biopsy to confirm the diagnosis.

Even though there's no specific treatment for Ehlers-Danlos and it can't be 'cured', there is much support your medical team can offer. Much of this will centre on protecting your joints from further damage. You will need to inform any doctor who treats you in future. Surgery, for instance, may need special precautions. You should also be offered genetic counselling, because you could pass this syndrome on to your children (the different types of Ehlers-Danlos are inherited in different ways). As long as you don't have the vascular type, your life expectancy shouldn't be affected.

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. Patient Platform Limited has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.