INTRODUCTION. Vascular Ehlers–Danlos syndrome (vascular EDS, vEDS, or VEDS, previously known as Ehlers–Danlos type IV) is a dominantly inherited disorder that results from mutations in COL3A1, the gene that encodes the chains of type III collagen [Pope et al., 1975; Pepin et al., 2014; Frank et al., 2015a].

av E Johansson · 2017 — författarna dra slutsatsen om att personer med EDS upplever stora brister i den Vascular Ehlers-Danlos Syndrome. 2015. 5. GeneReviews [Internet].

Overall, those with classic EDS and TNX-deficient EDS reported the most neuromuscular involvement, with muscle weakness, hypotonia, myalgia, easy fatigability, and intermittent paresthesias, although patients in all groups reported these features. Vascular variant of Ehlers–Danlos syndrome. Vascular EDS (formerly categorized as type 4) is identified by skin that is thin, translucent, extremely fragile, and bruises easily. It is also characterized by fragile blood vessels and organs that can easily rupture. Affected people are frequently short, and have thin scalp hair. CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions. AJR Am J Roentgenol 2014; 202:1120.

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001 Oct 18;345(16):1167-75. EDS type IV- Vascular type 2020-07-16 · Ehlers-Danlos syndrome (EDS) comprises a group of genetic disorders that affect the connective tissue, which provides support to structures such as joints, blood vessels, and skin. Vascular EDS (vEDS) patients often have fragile skin, bruise easily, and are at higher risk of rupturing blood vessels. 2016-08-03 · Background The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coagulation contribute to the challenge in treatment strategies. Until now there is little information about clotting characteristics that might influence hemostasis decisively and Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues.

Schalkwijk J et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

We can help you find answers to questions or guide you through your concerns about vascular EDS even if you or a loved one have not been diagnosed yet. You are probably in a state of shock making it difficult to take in what the medical professionals are telling you.

Watanabe A, Kosho T, Wada T, Sakai N, Fujimoto M, Fukushima Y, Shimada T. Circ J. 2007 Feb; 71(2):261-5. Review Alport Syndrome and Thin Basement Membrane Nephropathy [GeneReviews ® . 1993] Mar 23, 2018 - Vascular Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf Vascular Ehlers-Danlos syndrome is also known as EDS Type IV. Unlike other types of EDS, people with vascular EDS do not have stretchy skin.

The Gene Review on vascular EDS (see link at right) has a list of other conditions that are part of the differential diagnosis for EDS. They include Loeys-Dietz syndrome, Stickler syndrome, and a number of others.

It is caused by a gene mutation affecting a major protein, which causes weakness in vessel walls and hollow organs. Vascular EDS (vEDS) is a rare type of EDS. It is inherited in an autosomal dominant way which means that if a person has vEDS there is a 50% (1 in 2) chance that the condition will passed on to a child in each pregnancy. Vascular EDS is caused by a genetic alteration in a gene called COL3A1. Vascular EDS is considered the most serious form of Ehlers-Danlos Syndrome due to the possibility of arterial or organ rupture.

Diagnosis.
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Vascular EDS is considered the most serious form of Ehlers-Danlos Syndrome due to the possibility of arterial or organ rupture. If you experience sudden chest, back or abdominal pain, go to a hospital emergency department immediately. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types. Other types of Ehlers-Danlos syndrome have additional signs and symptoms.

Vascular Ehlers-Danlos syndrome. Jessica Bowen & Judy Tocher, Genetic Counsellors, EDS National Diagnostic Service, Sheffield Children's Hospital. Please Learn about vascular Ehlers-Danlos Syndrome (vEDS) symptoms, treatment, life expectancy and other frequently asked questions.
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Ehlers-Danlos syndrome - vascular type is a genetic condition characterized by In: GeneReviews at GeneTests Medical Genetics Information Resource

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. Sometimes, Ehlers-Danlos syndrome (EDS) can affect the eyes. Certain subtypes are more likely to be associated with eye problems than other subtypes.

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Annabelle's Challenge Vascular EDS Charity, Bury. 5,479 likes · 166 talking about this · 111 were here. UK registered charity supporting patients and families touched by Vascular Ehlers-Danlos Syndrome.

Although vascular EDS appears to be genetically homogeneous, allelic heterogeneity is marked, and the natural history varies with gender and type of mutation in COL3A1. Pepin et al. (2014) concluded that these findings indicate that when counseling families, confirmation of the presence of a COL3A1 mutation and its nature can help evaluate the risks of complications. The vascular type of EDS is inherited in an autosomal dominant manner. About 50% of affected individuals have inherited the mutant COL3A1 gene from an affected parent and about 50% have new disease-causing mutations.