Vascular Ehlers-Danlos Syndrome (vEDS)

Vascular Ehlers-Danlos Syndrome

INTRODUCTION TO VASCULAR EDS (vEDS)

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.

Incidence and Mechanism
Vascular EDS is estimated to occur between 1 in 50,000 individuals to 1 in 200,000 and results from pathogenic variants in COL3A1, which is responsible for producing chains of type III procollagen, a major protein in the walls of blood vessels and hollow organs. The changes in COL3A1 known to cause Vascular EDS alter the framework used to build connective tissue, which decreases its capacity to withstand stress.

Mortality risk
Potentially fatal effects include: arterial aneurysm, dissection, and rupture; bowel rupture; and rupture of the uterus when pregnant. Life span is often affected. Currently, the median life span is about 51 years—within a wide range from 10 to 80 years—and it is influenced by the nature of the particular COL3A1 variant.

Diagnosis
A vEDS diagnosis is most often sought because of family history; someone’s medical history; or pregnancy complications at a young age. Diagnosis should be confirmed by identifying the COL3A1 variant through genetic testing. Confirmation helps rule out other possible causes for symptoms as well as establishing a clear need for medical surveillance, treatment, and study of family members.

Management and care
After diagnosis, the first priority is assembling an integrated care team to provide a clinical and social support network for the individual and their family. Management is complex and requires multiple specialists who can respond to and manage the major complications.

  • Establish coordinated care team including multiple specialists who can quickly respond to and treat the major complications.
  • Create individualized plan for emergency (EDS passport), including diagnosis and management plan, that can be carried when traveling.
  • Modulate lifestyle to minimize injury and risk of ruptures.
  • Maintain normal blood pressure and treat hypertension aggressively.
  • Schedule examination of the vascular system, using doppler ultrasound, CTA (low radiation alternatives), or MRA, if feasible on an annual basis.
  • Centralize management at centers of excellence (experience) when feasible.

Our vEDS Stories

Recreating myself in a safer environment

CW// Discussion of surgery and medical trauma When I was a child, I recall my mother suffering from daily migraines, and neck pain. The day before my 13th birthday, my mom passed away. At the time, it was said to me that she died from “an aneurysm in her heart”. Now, I know that she

Aytu BioPharma Announces PREVEnt Trial Start Planned for Late 2022 or Early 2023

The specialty pharmaceutical company,  AytuBio Pharma, announced this week that it anticipates the PREVEnt trial will begin in late 2022 or early 2023. This study will be investigating the ability of enzastaurin to reduce the severe complications of vEDS. There are currently no FDA-approved therapies for vEDS.   Aytu BioPharma CEO Josh Disbrow writes the following:   “Aytu BioPharma remains committed

Aytu BioPharma Announces FDA Clearance of Investigational New Drug (IND) Application for AR101/Enzastaurin in Vascular Ehlers-Danlos Syndrome

The specialty pharmaceutical company, Aytu BioPharma, Inc. (Nasdaq: AYTU), announced this week that it has received U.S. Food and Drug Administration (FDA) clearance of its Investigational New Drug (IND) application for AR101/enzastaurin for vascular Ehlers-Danlos syndrome (vEDS).   This clearance will enable the company to commence its pivotal PREVEnt clinical trial in early 2022, investigating the ability of enzastaurin to reduce the severe

Acer Therapeutics Plans Clinical Trial for EDSIVO™ (celiprolol) in Vascular Ehlers-Danlos Syndrome 

The pharmaceutical company, Acer Therapeutics Inc. (Nasdaq: ACER), focus on the acquisition, development, and commercialization of therapies for serious rare and life-threatening diseases with significant unmet medical needs, announcing this week that they are planning a pivotal clinical trial in patients with COL3A1+ vascular Ehlers-Danlos syndrome (vEDS) with the treatment EDSIVO™ (celiprolol). Vascular EDS is a

I just try to live a normal life

I had my first heart attack in 2003, but with minor damage and no explanation as to why I had it. In 2015, my second heart attack was discovered by a dissection in one of my vessels. This would open up a study in Halifax Nova Scotia, with many doctors, and with the results of

Clinical trial announced for vascular Ehlers-Danlos syndrome (vEDS)

Specialty pharmaceutical company, Aytu BioPharma, announced this week that they will be conducting a pivotal clinical trial for the development of treatment for vascular Ehlers-Danlos syndrome (vEDS).  What is vascular Ehlers-Danlos syndrome?  VEDS is estimated to occur between 1 in 50,000 individuals to 1 in 200,000 and results from pathogenic variants in COL3A1, which is responsible for producing chains of

As I clung to life in the hospital, I was diagnosed with vEDS

This story was shared in Spanish, the English version has been translated and in the event of any discrepancies, the original version below with prevail.  I have always been the most vulnerable in my family, half of my life has been in hospitals and medical appointments, everything hurt and I was sick all the time. 

Advocacy became my biggest lifeline during my diagnosis journey

TW: Contains mention of suicide. For years, the struggle to find the words to raise awareness for my genetic condition, vascular Ehlers-Danlos syndrome (vEDS), has mimicked the years of working through speech therapy, as my family tried to decipher the tongue-tied soliloquy I called talking. A million details scrambled together, just enough to make it

#REDS4VEDS Day, 2020

My gastroenterologist went the extra mile to help me get a diagnosis

Hello all, my name is Faith. I am 27 years old, my diagnosis journey began in 2017. Feb 13, 2017, to be exact. That morning I was awakened from my sleep with really sharp pains in my stomach. I thought it was just the normal gastrointestinal issues I normally live with, being that I was