The hypermobile variant hEDS is by far the most common type and may be more common than that as it may be missed or misdiagnosed as something else. Most are rare e. Individuals o f all racial and ethnic backgrounds are affected by EDS which can present with complications from birth and progress over time. The two known inheritance patterns for the Ehlers-Danlos syndromes are autosomal dominant and autosomal recessive. Some people have joint hypermobility, joint instability, injury, and pain in their joints and muscles that is identical in its mechanism to that seen in EDS.
However, they do not have other connective tissue problems like those described above skin, gums, bowel, and blood vessel rupture, etc and therefore do not have signs of EDS or any other of the hypermobility-related disorders of connective tissue such as Marfan syndrome or Loeys -Dietz syndrome, etc.
In this situation where there is no other explanation for hypermobility, instability, and joint and muscle injury, the term hypermobility spectrum disorder HSD is used. The prevalence of HSD may be in the order of 1 in to 1 in based on a large population st udy of medical records.
HSD may be more common than that as it may be missed or misdiagnosed as something else. If you think you might have one of the Ehlers-Danlos syndromes or hypermobility spectrum disorders, and particularly if someone in your immediate family has been diagnosed, ask your doctor if a diagnosis fits your symptoms. If they choose to, any doctor who can diagnose a disease is able to diagnose EDS and HSD, but it is mo re likely that you wi ll be given a referral to a specialist in a discipline such as Rheumatology or Clinical G eneticist: someone adept at distinguishing between th e se diseases, a nd able to do the testing necessary to differentiate EDS and HSD from the more than other heritable connective tissue disorders.
Knowing the type of EDS or HSD gives you and your medical team some idea of where problems might come from and why they are happening. And as more people are diagnosed, EDS and HSD gain the attention needed to increas e care provision, education, research into these conditions leading to better health outcomes.
Your path to an EDS or HSD diagnosis starts with the doctor taking a full history of your concerns and then a physical examination that should look at your joints, skin, and any other parts of the body that might be affected.
Your family medical history may also hold valuable information. A child with EDS might experience symptoms caused by their joint hypermobility, but many other parts of the body can also be affected, leading to difficulties in school. Genetic counselling for the Ehlers-Danlos syndromes. How to get assessed for a rare type of EDS. Video: Molecular genetics and vascular EDS. Living with EDS EDS cannot be 'cured' but many people learn over time how to control it and live full and active lives.
Children Many children with EDS are 'mild' and their symptoms may go unnoticed, however sometimes children are severely affected. What is EDS? Information sheets, how to get a diagnosis, advice for medical profesisonals Our Cookies We use cookies, which are small text files, to improve your experience on our website and help us improve the site.
Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Diagnosis Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Request an Appointment at Mayo Clinic.
Share on: Facebook Twitter. Show references Ehlers-Danlos syndromes. Accessed Aug. Ferri FF. Ehlers-Danlos syndrome. In: Ferri's Clinical Advisor Since a dislocation means your bone is no longer where it should be, you should treat it as an emergency and seek medical attention as soon as…. Learn about the symptoms and treatment options. Here are 16 of the best sunscreens on the market in spray, lotion, and solid forms, and for different needs.
They're tried and true. Health Conditions Discover Plan Connect. Medically reviewed by Daniel Murrell, M. Recently, 13 major types of Ehlers-Danlos syndrome have been subtyped. These include: classic classic-like cardiac-valvular vascular hypermobile arthrochalasia dermatosparaxis kyphoscoliotic brittle cornea spondylodysplastic musculocontractural myopathic periodontal Each type of EDS affects different areas of the body. What causes EDS? What are the symptoms of EDS? How is EDS diagnosed?
How is EDS treated? Potential complications of EDS. Read this next. Hypermobile Joints.
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