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. More information The following websites provide more information, advice and support for people with EDS and their families: Ehlers-Danlos Support UK — you can also call their free helpline on , find local support groups or visit their online forum Hypermobility Syndromes Association HMSA — you can also call their helpline on , find local groups or visit their online forum Information about you If you have EDS, your clinical team will pass information about you on to the National Congenital Anomaly and Rare Diseases Registration Service This helps scientists look for better ways to prevent and treat this condition.
You can opt out of the register at any time. 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. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. Diagnosis Diagnosis. A diagnosis of the Ehlers-Danlos syndromes EDS is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis: [1] [2] [3] Collagen typing, performed on a skin biopsy , may aid in the diagnosis of vascular type , arthrochalasia type , and dermatosparaxis type.
People with EDS often have abnormalities of certain types of collagen. Genetic testing is available for many subtypes of EDS; however, it is not an option for most families with the hypermobility type.
Imaging studies such as CT scan , MRI , ultrasound , and angiography may be useful in identifying certain features of the condition. Urine tests to detect deficiencies in certain enzymes that are important for collagen formation may be helpful in diagnosing the kyphoscoliosis type. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Orphanet lists international laboratories offering diagnostic testing for this condition. Treatment Treatment. The treatment and management of Ehlers-Danlos syndrome EDS is focused on preventing serious complications and relieving signs and symptoms. However, depending on the type of EDS and severity, there may be an increased risk of various surgical complications such as wound healing problems, excessive bleeding, dissection, and hernias.
Management Guidelines Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Prognosis Prognosis. The vascular type is typically the most severe form of EDS and is often associated with a shortened lifespan. People affected by vascular EDS have a median life expectancy of 48 years and many will have a major event by age The lifespan of people with the kyphoscoliosis form is also decreased, largely due to the vascular involvement and the potential for restrictive lung disease. Affected people can often live healthy if somewhat restricted lives.
Find a Specialist Find a Specialist. To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. You can also learn more about genetic consultations from MedlinePlus Genetics. Research Research.
Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query". Organizations Organizations.
Organizations Supporting this Disease. RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease.
Do you know of an organization? Living With Living With. Other forms of Ehlers-Danlos syndrome are rare, often with only a few cases or affected families described in the medical literature. Mutations in at least 20 genes have been found to cause the Ehlers-Danlos syndromes. Mutations in the TNXB gene cause the classical-like type and have been reported in a very small percentage of cases of the hypermobile type although in most people with this type, the cause is unknown.
The cardiac-valvular type and some cases of the arthrochalasia type are caused by COL1A2 gene mutations; mutations in the COL1A1 gene have also been found in people with the arthrochalasia type.
Other rare forms of Ehlers-Danlos syndrome result from mutations in other genes. These pieces assemble to form mature collagen molecules that give structure and strength to connective tissues throughout the body.
Mutations in any of these genes disrupt the production or processing of collagen, preventing these molecules from being assembled properly. These changes weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of the Ehlers-Danlos syndromes. Some genes associated with recently described types of Ehlers-Danlos syndrome have functions that appear to be unrelated to collagen.
For many of these genes, it is not clear how mutations lead to hypermobility, elastic skin, and other features of these conditions. The inheritance pattern of the Ehlers-Danlos syndromes varies by type. The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder.
In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new de novo gene mutations and occur in people with no history of the disorder in their family. The classical-like, cardiac-valvular, dermatosparaxis, kyphoscoliotic, spondylodysplastic, and musculocontractural types of Ehlers-Danlos syndrome, as well as brittle cornea syndrome, are inherited in an autosomal recessive pattern.
In autosomal recessive inheritance, two copies of a gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
The myopathic type of Ehlers-Danlos syndrome can have either an autosomal dominant or autosomal recessive pattern of inheritance.
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