After other possible conditions are excluded, a diagnosis of generalised hypermobility spectrum disorder may be made here. Joint hypermobility with its possible complications is now classified using the idea of a spectrum. At one end is simple hypermobility which causes no symptoms, is not a disease and is a trait, like height.
At the other end of our spectrum is hEDS, and in between falls a range of hypermobility-related conditions called hypermobility spectrum disorders HSD. Four subtypes of HSD are distinguished according to which joints are involved, whether the hypermobility is generalised throughout the whole body, and whether other musculoskeletal problems are present. It is also possible to have been hypermobile in the past and to have gradually become stiffer with age, but still have the musculosketal issues associated with that historical hypermobility.
HSD are likely to be common. Summary Dr Kazkaz talks about the history of the Ehlers-Danlos syndromes, right up to the most recent reclassification. Summary The genetics behind connective tissue, heritable disorders of connective tissue and the different types of EDS.
Classical EDS cEDS is characterised by joint hypermobility, very stretchy skin, and fragile skin which leads to significant bruising and widened, sunken atrophic scars. There have been major advances in the understanding of cEDS in the last 20 years, now making it possible to confirm the diagnosis by genetic testing in the majority of people wth the condition.Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. How prevalent is Ehlers-Danlos Syndrome?
It is much the same thing with Ehlers-Danlos Syndrome and collagen. The collagen with which a person with Ehlers-Danlos Syndrome is built is not structured the way it should be, or only part of it is produced. With a badly built or processed collagen, the tissue that relies on it can be pulled beyond normal limits and thus be damaged.
Collagen is the most abundant protein in the body and types of collagen can be found almost anywhere: in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on.
It shows up in places that seem unrelated until the underlying connection to Ehlers-Danlos Syndrome is recognized. There are six defined types of Ehlers-Danlos Syndrome, as well as a number of mutations identified as Ehlers-Danlos Syndrome that fall outside the current system.
The major types of Ehlers-Danlos Syndrome are classified according to the signs and symptoms that are manifested. Learn more about the different types of Ehlers-Danlos Syndrome. In , a nosology was written at the Villefranche International Conference that refined the types of Ehlers-Danlos Syndrome into the current six major types. Each type has a set of major diagnostic criteria and of minor diagnostic criteria.
Traditional diagnosis of Ehlers-Danlos Syndrome consists of family history and clinical evaluation to assess the diagnostic criteria.
Genetic testing is available for most types of Ehlers-Danlos Syndrome, although not for the most common type, Hypermobility. The tests vary in accuracy; in most instances genetic testing should be used conservatively to confirm an Ehlers-Danlos Syndrome type diagnosis rather than to rule one out.
At this time, research statistics of Ehlers-Danlos Syndrome show the prevalence as 1 in 2, to 1 in 5, people. Migraine headaches. Degenerative joint disease. Flat feet.
Abnormality of the palate. Abnormality of the roof of the mouth. Abnormalities of the wrists. Bulging of wall of large artery located above heart.
Atypical scarring. Bladder hernia. Dropped bladder. Abnormal fertility. Eye folds. Prominent eye folds. Acid reflux. Acid reflux disease. Gum enlargement.
Inflamed gums. Red and swollen gums. Dry eyes. Bulging cornea. Decreased joint mobility. Decreased mobility of joints. Limited joint mobility. Limited joint motion. Decreased width of tooth. Breakdown of bone. Pins and needles feeling. Drooping upper eyelid.
Firm lump under the skin. Growth of abnormal tissue under the skin. Rupture of tendons. Ruptured tendon. Poorly functioning veins. Joint dislocations. Recurrent joint dislocations. Flexible joints. Increased mobility of joints. Joint instability. Lax joints. Stretch marks.
Do you have more information about symptoms of this disease? We want to hear from you. Do you have updated information on this disease? Cause Cause. Although hypermobile Ehlers-Danlos syndrome is regarded as a genetic condition, the underlying cause gene or genes responsible has not been identified. Inheritance Inheritance. Although the underlying genetic cause of hypermobile Ehlers-Danlos syndrome is unknown, it appears to follow an autosomal dominant pattern of inheritance.
In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new de novo mutations in the gene. These cases occur in people with no history of the disorder in their family. Diagnosis Diagnosis. Hypermobile Ehlers-Danlos syndrome hEDS is diagnosed based on the presence of characteristic signs and symptoms because there is no specific test available.
Feature C —musculoskeletal complications must have at least 1 of 3 : 1. Also, joint hypermobility may lessen with age, especially with the development of arthritis or after surgery. In these cases, it would be important to note a past history of joint laxity.
Hypermobile EDS and hypermobility spectrum disorders – The Ehlers-Danlos Support UK
Some of these include sleep disturbance, fatigue, postural orthostatic tachycardia, functional gastrointestinal disorders, dysautonomia, anxiety, and depression. These conditions are sometimes more debilitating than the joint symptoms as they often impair daily life, and should be considered and treated.
Treatment Treatment. The treatment of hypermobile Ehlers-Danlos syndrome depends on the signs and symptoms present in each person. For example, physical therapy is often recommended to strengthen muscles and improve joint stability.
Assistive devices such as braces, wheelchairs, or scooters may be necessary depending on the severity of joint instability. Pain medications may be prescribed to manage severe musculoskeletal muscle and bone pain. Affected people may be monitored for the development of osteopenia low bone density and aortic root dilatation enlargement of the blood vessel that distributes blood from the heart to the rest of the body.
Please speak to your healthcare provider if you have any questions about your personal medical management plan. Prognosis Prognosis. The long-term outlook prognosis for people with hypermobile Ehlers-Danlos syndrome depends on the severity of the condition and the signs and symptoms present.
Although this form of EDS does not typically impact life expectancy, musculoskeletal muscle and bone pain and joint instability can have a significant impact on daily function and quality of life. Find a Specialist Find a Specialist. To find a.