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Min bok om EDS. Bilaga I Information inför behandling

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. If you experience sudden chest, back or abdominal pain, go to a hospital emergency department immediately. 2005-06-01 · Vascular EDS has an autosomal dominant inheritance pattern, individuals and families must be informed of the 50% risk of transmission to the offspring of affected individuals. In addition, women with type IV EDS have a 25% risk of death with each pregnancy.

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Learn about clinical trials and other studies in vascular Ehlers-Danlos Syndrome (vEDS, EDS Type IV). Subscribe to our mailing list to always stay up to date on any ongoing vascular EDS trials. 2021-04-08 Vascular EDS is almost always inherited in an autosomal dominant manner, but rare examples of biallelic inheritance have been reported. About 50% of affected individuals have inherited the COL3A1 pathogenic variant from an affected parent, and about 50% of affected individuals have a de no … 2017-08-24 · It is typically considered the most severe form of EDS and is often associated with a shortened lifespan. Among affected people diagnosed as the result of a complication, 25% have experienced a significant medical complication by age 20 and more than 80% by age 40. The median life expectancy for people affected by vascular EDS is 48 years. Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.

vEDS or Ehlers-Danlos syndrome type IV is an autosomal dominant disorder of COL3A1 which encodes type III collagen, an important component of the connective tissue in skin, blood vessel walls and visceral organs. Degradation of collagen leads to loss of tensile strength in the aorta and vascular fragility.

Personer med Ehler-Danlos syndrom - DiVA

The frequency is estimated as 1/50,000–1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Background Ehlers–Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine Vascular Ehlers-Danlos Syndrome.

Ehlers-Danlos syndrom - Socialstyrelsen

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. 2019-09-18 · GeneReviews (see below) offers more detailed information regarding the treatment and management of hypermobile EDS. Please speak to your healthcare provider if you have any questions about your personal medical management plan. Vascular EDS is not in the usual evaluation protocol for bruising in the perinatal and early childhood periods. Major complications in childhood are very rare and death prior to the age of 10 is even less common .

EDS is characterized by skin extensibility, joint hpermobility, and tissue fragility. The prevalence of EDS is estimated to be about 1 in 5000 births.
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These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. Ehlers-Danlos syndrome type IV (EDS IV or Vascular EDS, OMIM# 130050) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance; and arterial, intestinal, or uterine fragility (Pepin & Byers. GeneReviews.

Ann Surg 2013; 258:257. Vascular Ehlers-Danlos syndrome (vEDS, VEDS, previously known as EDS type IV) is an uncommon, dominantly inherited, genetic connective tissue disorder. Vascular EDS is particularly serious because of the risk for spontaneous arterial or organ rupture.
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Personer med Ehler-Danlos syndrom - DiVA

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GeneReviews.