About Vascular Ehlers-Danlos
The Basics of vEDS
What is Vascular Ehlers-Danlos Syndrome?
Vascular Ehlers-Danlos Syndrome (vEDS, previously Ehlers-Danlos Type IV) is a rare genetic disorder with an estimated prevalence of 1/50,000 to 1/200,000(1).
vEDS is caused by mutations in the COL3A1 gene. Mutations in this gene effect the production of type III collagen. Type III collagen is a protein which is found throughout the body including skin, blood vessels and hollow organs (such as the intestines). Type III collagen is a structural protein, important for the strength and integrity of tissues like blood vessels and the intestines. It is important in helping these tissues withstand stress.
In vascular Ehlers-Danlos Syndrome, the genetic defect which causes the disease (mutations in COL3A1) leads to ‘weaker’ than normal type III collagen. This eventually causes the symptoms of the disease, discussed below.
How does someone get vEDS?
A person can have vascular EDS for one of two reasons:
One of the person's parents had vascular EDS
The person had a spontaneous mutation
Every gene in the body has two copies—one inherited from each of parent. Vascular Ehlers-Danlos Syndrome is an Autosomal Dominant disease, following Autosomal Dominant inheritance. This means that you only need to have one abnormal copy of the responsible gene (from either parent) to have the disease. Anyone with vEDS will be at a 50% chance of passing on the ‘bad’ gene to their children.
In the case of a spontaneous mutation, neither of your parents has the disease, but you developed the mutation randomly during development in utero.
How is the diagnosis made?
The diagnosis is typically first made based on clinical suspicion. Someone may suspect vEDS based on your family history, if you either have a known family member with vEDS or have a family history of arterial dissections, aneurysms, or ruptures(1). It may also be due to other events at a young age such as rupture of the large intestine, or issues in pregnancy (such as uterine rupture)(1). Keep in mind, these events might make your physician suspicious of vEDS. However, there are other genetic diseases that can have similar complications. Loeys-Dietz syndrome, Marfan Syndrome, and other familial arterial aneurysm syndromes can have overlapping symptoms(1). A true diagnosis must be established through genetic testing.
The definitive diagnosis is made through gene sequencing to look for mutations along the COL3A1 gene. This is now the most common way to diagnose the disease(2). Another method of diagnosis which was commonly used before gene sequencing became more cost-efficient was biochemical testing to look at the quality of type III collagen being produced by skin cells.
FIGHT vEDS is passionate about helping patients get genetic testing done quickly, easily, and affordably. For more information visit our vEDS Genetic Testing program.
How does vascular EDS compare to other forms of EDS?
In general, Ehlers-Danlos Syndrome is a family of connective tissue disorders. It is a diverse group of connective tissue disorders but they are uniformly characterized by variable degrees of involvement of the skin, joints, and in some cases arteries and intestines. Unifying findings and features between all EDS include some degree of joint hypermobility, skin hyperextensibility and fragility, as well as tissue fragility(2).
For comparison, the Hypermobile Type of Ehlers-Danlos Syndrome is characterized by joint hypermobility (which can sometimes be dramatic), skin that is often times distensible/stretchy and soft or velvety to the touch, joint dislocations and chronic joint pain(2).
What are Symptoms of Vascular EDS?
Vascular Ehlers-Danlos syndrome is the most severe form of EDS with symptoms that can be life-threatening. These include vascular events, described in detail below, and rupture of hollow organs such as bowel and the uterus (in pregnant women).
In general, there are two types of blood vessels in the body that are part of the vascular system: Arteries and Veins. Arteries carry blood away from the heart, and veins carry blood back to the heart. Symptoms of vascular EDS are characterized by artery involvement. The disease affects medium and large arteries in the body. Issues of the arteries include aneurysms (enlargement of the artery) or dissections (tears in the artery). Patients can have spontaneous vascular ruptures, with or without prior enlargement of the artery. This can be life threatening.
Skin manifestations are another symptom of the disease:
Skin: Patients may note thin, translucent appearing skin as if you can almost see through it. Patients will often have prominent, visible veins, especially on the chest, due to this(1,2).
Bruising: Very prominent bruising is often noted and is the most common presentation in childhood(1). This may be as a result of trauma, but with larger bruises than one might expect for the event. Or, it can mean unexplained bruising where individuals with vEDS find bruises without an obvious cause.
There can be characteristic facial features including a ‘tight’ or ‘pinched’ appearance of the mid face, prominent eyes, and thinner lips. Joint hypermobility is not as common of a feature in vEDS as in other forms of EDS. If it is present, it often affects smaller joints such as those in the hand(2).
What is the impact of VEDS on life expectancy?
The current life expectancy for patients with vEDS is a median survival of 51 years. It is slightly higher in women, with a median of 53 years and slightly less men with a median of 49 years(1). However, there is a very wide range of life expectancy of about 10-80 years(3). The type of COL3A1 mutation you have often effects the severity of your disease, your symptoms and your life expectancy.
A note from FIGHT vEDS: Please keep in mind that the above information is based on historical data. Vascular EDS impacts patients in a wide spectrum of ways, with some patients having more severe forms of the disease than others. This will affect life expectancy estimates and how they pertain to you as an individual. Also remember that this information is over many decades of studying the disease and doesn’t necessarily account for advances in medicine—the introduction of celiprolol, the use of other beta-blockers and blood pressure lowering agents, advancements in imaging (CT, MRI), or close surveillance by a skilled team to help manage your disease as issues arise.
Understanding if you have the disease is critical to getting the right treatment plan to increase life expectancy. If you're interested in learning more about getting tested for vEDS click here.
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(1) Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin MG, Robert L, Sanders L, Wheeldon N. 2017. Diagnosis, natural history and management in vascular Ehlers-Danlos syndrome. American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 175C:40-47.
(3) Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. 2014. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos Syndrome (EDS type IV). Genet Med 16: 881-888.