Ehlers-Danlos syndrome (EDS) is an inherited condition. Having a faulty inherited gene means that the person has a problem with the formation and structure of collagen and connective tissue in the body. The amount of collagen in the body can be reduced and/or the collagen and connective tissue can be weaker. It can affect the skin, joints, and blood vessels throughout the body leading to:
-Fragile and stretchy (hyper-elastic) skin.
-Unstable and loose (hypermobile) joints.
-Fragile blood vessels and body tissues.
There are six main types of EDS that cause different problems and affect the body in different ways. The types depend on which of the different types of collagen are affected and in what part of the body. There can be challenges too if you have a wound that requires stitches, because the skin often isn’t strong enough to hold them. Naturally, in Podiatry this can present as a major problem, especially if the person is diabetic or has vascular problems.
Signs and symptoms of the most common form of Ehlers-Danlos syndrome include:
-Overly flexible joints – Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Small joints are affected more than large joints. You might also be able to touch the tip of your nose with your tongue.
-Stretchy skin – You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety.
-Fragile skin – Damaged skin often doesn’t heal well. For example, the stitches used to close a wound will often tear out and leave a gaping scar. These scars may look thin and crinkly.
-Fatty lumps at pressure points – Can occur around the knees or elbows and may show up on X-rays.
-Joint changes – The looseness of the joints creates a greater than normal range and degree of movement – they are very flexible. These joint problems are often described as ‘double-jointed’ by some people.
-Dislocations of joint – Joint pains are also common and curvature of the spine (scoliosis) may develop in some people. Children with hypermobile joints can take longer than average to sit, stand or walk.
-Weakness of the muscles – This may be noticed perhaps by difficulty walking, falling over frequently, or problems controlling the movements of the body. In more severe cases, people may need a stick or a wheelchair to help them walk or get about. Poor grip and difficulty writing may also be problematic for some people. Sometimes trouble with speaking can occur because the muscles that help the person to speak are weakened.
-Weakened arteries – One of the most severe forms of the disorder, vascular Ehlers-Danlos syndrome can weaken your heart’s largest artery (aorta), as well as the arteries to your kidneys and spleen.
-Varicose veins – May also be more common than in the general population.
Symptom severity can vary from person to person. Some people will have overly flexible joints, but few or none of the skin symptoms.
Complications depend on the types of signs and symptoms you. For example, overly flexible joints can result in joint dislocations and early-onset arthritis.
EDS is sometimes quite difficult to diagnose. It is usually suspected because of the typical symptoms. The doctor may ask about close family members, and any problems and symptoms they may have had with their skin or joints.
Sometimes, a sample (biopsy) of the skin may be suggested to help confirm the diagnosis. The skin biopsy may allow doctors to determine which type of EDS a person has. It is a simple procedure which is usually done under a local anaesthetic. Typical changes in the skin can be seen in the different types of EDS. Skin cells can also be analysed to see whether there are any problems with the genes.
People living with EDS need to think about and use their joints carefully and sensibly. They should be careful to avoid heavy lifting and contact sports, so as to minimise any trauma to their joints. Protective splints and joint supports may be helpful. Physiotherapists may be able to help and advise about the balance between rest and exercise. Walking aids such as sticks and wheelchairs may sometimes be needed. Occupational therapists may be able to advise about home adaptation and aids to help with daily living.
Painkillers may help with joint pains. Sometimes vitamin C supplements may be suggested, as vitamin C may lessen the tendency to bruise easily.
Notwithstanding the likely challenges, most people with EDS are generally able to lead healthy and full lives. It’s all about your mindset in dealing with the condition.
Your feet mirror your general health . . . cherish them!