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Overview
Ehlers-Danlos syndrome is a group of hereditary conditions that affect your connective tissue – mainly your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to your body's underlying structures.
People with Ehlers-Danlos syndrome usually have extremely flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that needs stitches, as the skin is often not strong enough to hold it.
A more severe form of the condition, called vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines, or uterus to rupture. Because vascular Ehlers-Danlos syndrome can cause serious complications during pregnancy, it is best to talk to a geneticist before starting a family.
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Symptoms
There are many different types of Ehlers-Danlos syndrome, but the most common signs and symptoms include:
- Joints that are too flexible.Because the connective tissue that holds the joints together is looser, your joints can move far beyond their normal range of motion. Joint pain and dislocations are common.
- Stretchy skin.Weakened connective tissue allows your skin to stretch much more than normal. You may be able to pull some of the skin away from your flesh, but it will snap right back into place when you let go. Your skin may also feel unusually soft and velvety.
- Fragile skin.Damaged skin often does not heal properly. For example, the sutures used to close a wound will often tear out, leaving a gaping scar. These scars may appear thin and wrinkled.
The severity of symptoms can vary from person to person and depends on the specific type of Ehlers-Danlos syndrome you have. The most common type is called hypermobile Ehlers-Danlos syndrome.
Vascular Ehlers-Danlos syndrome
People with vascular Ehlers-Danlos syndrome often share characteristic facial features, such as a thin nose, thin upper lip, small earlobes, and prominent eyes. They also have thin, translucent skin that bruises very easily. In people with a light skin color, the underlying blood vessels are clearly visible through the skin.
Vascular Ehlers-Danlos syndrome can weaken the largest artery in your heart (aorta), as well as the arteries to other parts of your body. A rupture of any of these important blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or colon, which can also rupture.
Reasons
Different types of Ehlers-Danlos syndrome are associated with a number of genetic causes, some of which are inherited and passed from parent to child. If you have the most common form, hypermobile Ehlers-Danlos syndrome, there is a 50% chance that you will pass the gene on to each of your children.
Complications
Complications depend on the types of signs and symptoms you have. For example, joints that are too flexible can lead to joint closure and early arthritis. Fragile skin can develop noticeable scars.
People with vascular Ehlers-Danlos syndrome are at risk for often fatal ruptures of large blood vessels. Some organs, such as the uterus and intestines, can also rupture. Pregnancy can increase the risk of uterine rupture.
Prevention
If you have a personal or family history of Ehlers-Danlos syndrome and are considering starting a family, you may benefit from talking to a genetic counselor: a health care provider trained to manage the risk of inherited conditions. to estimate. Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the risks it poses to your children.
By Mayo Clinic staff
Care for Ehlers-Danlos Syndrome at the Mayo Clinic
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25 augustus 2022
- Ehlers-Danlos syndromes. Genetic and Rare Disease Information Center (GARD). https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes. Accessed August 12, 2020.
- Ferri FF. Ehlers-Danlos syndrome. In: Ferri's Clinical Advisor 2021. Elsevier; 2021. https://www.clinicalkey.com. Accessed August 12, 2020.
- Pauker SP, et al. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. https://www.uptodate.com/contents/search. Accessed August 12, 2020.
- KliegmanRM, et al. Ehlers-Danlos syndrome. In: Nelson Textbook of Pediatrics. 21st edition Elsevier; 2020. https://www.clinicalkey.com. Accessed August 12, 2020.
- Ask MayoExpert. Ehlers-Danlos syndromes. Mayo Clinic; 2019.
- Pauker SP, et al. Overview of the treatment of Ehlers-Danlos syndromes. https://www.uptodate.com/contents/search. Accessed August 12, 2020.
- A Teacher's Guide: Meeting the Needs of the Ehlers-Danlos Child. Ehlers-Danlos National Foundation. https://ehlers-danlos.com/resource-guides. Accessed August 12, 2020.
- Deyle DR (expert advice). Mayo Clinic. September 22
- Morrow ES Jr. Allscripts EPSi. Mayo-clinic. August 12,
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