Ehlers-Danlos syndrome vascular type
- EDS IV
- EDS IV (formerly)
- EDS type 4
- EDS4 (formerly)
- Ehlers Danlos syndrome, arterial type
Your QuestionWhat is Ehlers-Danlos syndrome vascular type? What are the symptoms and how is it treated?
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Questions on this page
- What is Ehlers-Danlos syndrome?
- Are there different types of Ehlers-Danlos syndrome?
- What is Ehlers-Danlos syndrome vascular type (type 4)?
- What are the signs and symptoms of Ehlers-Danlos syndrome, vascular type?
- Can Ehler Danlos syndrome, vascular type cause serious complications?
- How common are Ehler Danlos syndrome, vacular type complications?
- How might Ehlers-Danlos syndrome, vascular type be treated?
- How is Ehlers-Danlos syndrome inherited?
- What is autosomal dominant inheritance?
- How can I find a genetics professional in my area?
- Thin, translucent skin
- Easy bruising
- Characteristic facial appearance (thin lips, small chin, thin nose, large eyes)
- Arterial, intestinal, and/or uterine fragility
In the Newborn
- Club foot
- Dislocation of the hips
- Inguinal (groin) hernia
- Joint dislocations or partial dislocations (subluxation)
- Pneumothorax (the collection of air or gas in the space around the lungs, which leads to a lung collapse)
- Aged appearance of the limbs, particularly the hands
- Early-onset varicose veins
- Receding gums
In addition, women with the vascular type of EDS have as much as a 12% higher risk for death from arterial rupture or uterine rupture during pregnancy than do pregnant women without EDS vascular type.
People with Ehlers-Danlos syndrome, vascular type require periodic follow-up which may involve screening the arteries using a technique called venous subtraction angiography and MRI or CT scan without contrast material. Arteriograms are not recommended because of the risk of injury to blood vessels. People with the vascular type EDS should also minimize risk of injury by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Germaine L Defendi, MD, MS, FAAP. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. October 2013; http://emedicine.medscape.com/article/943567-overview.
- Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.
- Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. Jan 2015; 100(1):57-61.
- Ehlers-Danlos syndrome. Genetics Home Reference. 2006; http://ghr.nlm.nih.gov/condition=ehlersdanlossyndrome.
- Pepin MG, Byers PH. Ehlers-Danlos syndrome, Vascular type. GeneReviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds4#eds4.Molecular_Genetics. Accessed 7/21/2008.
- What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. September 23, 2013; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns. Accessed 9/24/2013.