Page last reviewed: 06 February Next review due: 06 February Ehlers-Danlos syndromes. These include: an increased range of joint movement joint hypermobility stretchy skin fragile skin that breaks or bruises easily EDS can affect people in different ways.
Some of the rare, severe types can be life threatening. Hypermobile EDS People with hEDS may have: joint hypermobility loose, unstable joints that dislocate easily joint pain and clicking joints extreme tiredness fatigue skin that bruises easily digestive problems, such as heartburn and constipation dizziness and an increased heart rate after standing up problems with internal organs, such as mitral valve prolapse or organ prolapse problems with bladder control stress incontinence Currently, there are no tests to confirm whether someone has hEDS.
People with cEDS may have: joint hypermobility loose, unstable joints that dislocate easily stretchy skin fragile skin that can split easily, especially over the forehead, knees, shins and elbows smooth, velvety skin that bruises easily wounds that are slow to heal and leave wide scars hernias and organ prolapse Vascular EDS Vascular EDS vEDS is a rare type of EDS and is often considered to be the most serious. People with vEDS may have: skin that bruises very easily thin skin with visible small blood vessels, particularly on the upper chest and legs fragile blood vessels that can bulge or tear, resulting in serious internal bleeding a risk of organ problems, such as the bowel tearing, the womb tearing in late pregnancy and partial collapse of the lung hypermobile fingers and toes, unusual facial features such as a thin nose and lips, large eyes and small earlobes , varicose veins and delayed wound healing Kyphoscoliotic EDS Kyphoscoliotic EDS kEDS is rare.
People with kEDS may have: curvature of the spine — this starts in early childhood and often gets worse in the teenage years joint hypermobility loose, unstable joints that dislocate easily weak muscle tone from childhood hypotonia — this may cause a delay in sitting and walking, or difficulty walking if symptoms get worse fragile eyes that can easily be damaged soft, velvety skin that is stretchy, bruises easily and scars Getting medical advice See a GP if you have several troublesome symptoms of EDS.
For example: a physiotherapist can teach you exercises to help strengthen your joints, avoid injuries and manage pain an occupational therapist can help you manage daily activities and give advice on equipment that may help you counselling and cognitive behavioural therapy CBT may be useful if you're struggling to cope with long-term pain for certain types of EDS, regular scans carried out in hospital can detect problems with internal organs genetic counselling can help you learn more about the cause of your condition, how it's inherited, and what the risks are of passing it on to your children Your GP or consultant can refer you to these services.
Living with Ehlers-Danlos syndromes EDS It's important to be careful about activities that put a lot of strain on your joints or put you at risk of injury. Advice will depend on which type of EDS you have and how it affects you: you may be advised to avoid some activities entirely, such as heavy lifting and contact sports for some activities, you may need to wear appropriate protection and be taught how to reduce the strain on your joints lower risk activities, such as swimming or pilates , may be recommended to help you stay fit and healthy if fatigue is a problem, you can be taught ways to conserve your energy and pace your activities How Ehlers-Danlos syndromes EDS are inherited EDS can be inherited, but in some cases it occurs by chance in someone without a family history of the condition.
The severity of the condition can vary within the same family. Other times, the gene cause is dominant and can cause symptoms. These tests include genetic tests, skin biopsy, and echocardiogram.
An echocardiogram uses sound waves to create moving images of the heart. This will show the doctor if there are any abnormalities present. A blood sample is taken from your arm and tested for mutations in certain genes.
A skin biopsy is used to check for signs of abnormalities in collagen production. This involves removing a small sample of skin and checking it under a microscope. A DNA test can also confirm if a defective gene is present in an embryo. Additional treatment options may be available depending on the amount of pain you are experiencing or any additional symptoms.
Also, if your child has EDS, follow these steps to prevent injuries and protect their joints. In addition, put adequate padding on your child before they ride a bike or are learning to walk. They will be able to diagnose you with a few tests or by ruling out other similar conditions. If you are diagnosed with the condition, your doctor will work with you to develop a treatment plan. In additional, there are several steps you can take to prevent injury. People with hypermobile joints are able to extend them painlessly beyond the normal range of motion.
This occurs when the tissues holding the joint…. A skin lesion biopsy is a simple medical procedure in which a sample of your skin is removed and tested in a laboratory. An echocardiogram test uses sound waves to produce live images of your heart. It's used to monitor your heart function. Learn more about what to…. As collagen is present throughout the body, people with EDS tend to experience a broad range of symptoms, most of them less visible than the skin and joint differences.
These are complex syndromes affecting many systems of the body at once, despite this EDS is often an invisible disability. Symptoms commonly include, but are not limited to, long-term pain, chronic fatigue, dizziness, palpitations and digestive disorders.
Such problems and their severity vary considerably from person to person, even in the same type of EDS and within the same family. To date thirteen types of EDS have been identified. Despite their common name, each type is a distinct condition caused by a different gene mutation. The most common type is thought to be hypermobile EDS. Its exact prevalence is not known, but along with the related conditions the hypermobility spectrum disorders, it may be common.
The other types are rare. The journey to diagnosis is sometimes a long and convoluted one.
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