Ehlers-Danlos syndrome, Vascular type (type IV)

Symptoms

What are the main symptoms of vascular Ehlers-Danlos syndrome in children?

Children with vascular Ehlers-Danlos syndrome (vEDS) have similar very flexible joints, especially in their fingers and toes. Their skin is very thin, so that the blood vessels are easily seen. Unlike with other types of EDS, someone with vascular EDS does not have very stretchy skin. Instead, their skin is very fragile and can break easily. Since the blood vessels are very fragile, someone can easily bruise. Wounds take a long time to heal. As children with EDS get older, it is especially important that they avoid contact sports and heavy exercise. This is because blood vessels can easily break which can be fatal if left without treatment. Some children with vascular EDS have distinctive facial features that make them look prematurely aged. Their lips and nose can be thin. The eyes are large and the face has a pinched look.

References
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What are the main symptoms of vascular Ehlers-Danlos syndrome in adults?

What are the main symptoms of vascular Ehlers-Danlos syndrome?

What types of ruptures happen in vascular Ehlers-Danlos syndrome?

If you have vascular Ehlers-Danlos syndrome will you always have symptoms?

Are there different types of vascular Ehlers-Danlos syndrome?

What health problems should I look for in vascular Ehlers-Danlos syndrome?

Do other diseases look like vascular Ehlers-Danlos syndrome?

Are there any typical symptoms of vascular Ehlers-Danlos syndrome that are "odd" or "unique"?

What are the main symptoms of vascular Ehlers-Danlos syndrome in adults?

Adults with vascular Ehlers-Danlos syndrome (vEDS) have very flexible joints, especially their fingers and toes. Their skin is very thin, so that the blood vessels are easily seen. Unlike with other types of EDS, someone with vascular EDS does not have very stretchy skin. The skin is very fragile and can break easily. Since the blood vessels are very fragile, someone can easily bruise. Wounds take a long time to heal. It is especially important to avoid contact sports and heavy exercise, because the blood vessels can easily break and this can lead to death. Some people with vascular EDS have distinctive facial features that make them look prematurely aged. Their lips and nose are thin. The eyes are large and the face has a pinched look.

Some symptoms that are more common to adults include spontaneous pneumothorax (collapsed lung) and hemoptysis (coughing up blood). The walls of the intestines can break (rupture) in about 15% of adults. The walls of the uterine can also rupture and the risk is greatest during pregnancy. Should this happen, it is life-threatening to both mother and baby. Individuals with vEDS have an increased risk for strokes and aneurysms.

References
What are the main symptoms of vascular Ehlers-Danlos syndrome?

People with vascular Ehlers-Danlos syndrome (vEDS) have problems with their collagen and connective tissue. Connective tissue is the material between the cells of the body that connects and supports different tissues and organs. It gives them strength and elasticity. A structural protein called collagen is one of the major components in connective tissue. Problems with collagen cause a number of different symptoms.

The joints are very flexible, especially the smaller joints. The skin is very thin, so that the blood vessels are easily seen. Unlike with other types of EDS, someone with vascular EDS does not have very stretchy skin. The skin is very fragile and can break easily. Since the blood vessels are very fragile, someone can easily bruise. Wounds take a long time to heal. As children get older it is especially important that they avoid contact sports and heavy exercise, because the blood vessels can easily break and this can lead to death. The most common blood vessel that breaks is the aorta, the biggest artery in the body. Some people with vascular EDS have distinctive facial features that make them look prematurely aged. Their lips and nose can be thin. The eyes can be large and the face has a pinched look.

Some symptoms that are more common to adults include spontaneous pneumothorax (air in the chest area that can cause the lung to collapse) and hemoptysis (coughing up blood). The walls of the intestines can break (rupture) in about 15% of adults. The walls of the uterine can also rupture and the risk is greatest during pregnancy. Should this happen, both mother and baby can die. Strokes and aneurysms can also happen.

References
What types of ruptures happen in vascular Ehlers-Danlos syndrome?

People who have vascular Ehlers-Danlos syndrome (vEDS) are at high risk to have breaks (ruptures) in the blood vessels and organs. Ruptures occur because the collagen in the walls of blood vessels and other organs is not properly formed. Properly formed collagen provides the walls with strength and elasticity. People with vascular EDS have fragile walls that can break very easily.

Since the blood vessel walls can break (rupture) easily, the skin can easily bruise and wounds take a long time to heal. The most common artery that ruptures is the aorta. If blood vessel walls break it can, in the worst case, lead to death. Other organs that can rupture include the intestines and the uterus (in females). If the intestines rupture, it can lead to sepsis and serious health complications. Uterine ruptures are more likely to occur during pregnancy. Should this happen and the pregnancy is not being carefully monitored, the baby and the mother could die.

References
If you have vascular Ehlers-Danlos syndrome will you always have symptoms?

Not everyone with Vascular Ehlers-Danlos syndrome (vEDS) will have symptoms, or the same symptoms. Vascular EDS is caused by changes (or mutations) in the COL3A1 gene. The COL3A1 gene creates a part of the collagen protein that's specifically found in the walls of blood vessels and other major organs. Collagen is what gives the blood vessels their strength. If the collagen is not formed properly, the blood vessels become weak and fragile.

There are 2 main groups of COL3A1 gene mutations that someone can have. One group of gene mutations create a collagen protein that doesn't work. Almost everyone who has a mutation in this group will show symptoms of vascular EDS. The second group of gene mutations reduces the amount of collagen protein in the blood vessels. Not everyone who has a mutation in this group will have symptoms of vascular EDS.

References
  • Germain D. (2007). Ehlers-Danlos syndrome, vascular type. OrphaNet. Retrieved September 21, 2017 from http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=286
  • Pepin, M. G., Murray, M. L., Byers, P. H. (2015 November 19). Vascular Ehlers-Danlos Syndrome. GeneReviews. Retrieved December 26, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK1494/
Are there different types of vascular Ehlers-Danlos syndrome?

Vascular Ehlers-Danlos syndrome is a member of the Ehlers-Danlos syndrome (EDS) group of diseases. There are 6 major types of EDS. Vascular Ehlers-Danlos syndrome is known as Type IV (four) EDS. There is only one type of vascular Ehlers-Danlos syndrome.

Unlike most people with EDS, people with vascular EDS do not have very stretchy skin. The skin is very thin so that you can see many blood vessels underneath. The defining characteristic of vascular EDS is that the blood vessel walls are very weak and fragile. The walls of many organs (such as the uterus and intestines) will also be weak and fragile. They can easily break (rupture) which can cause serious health problems.

References
What health problems should I look for in vascular Ehlers-Danlos syndrome?

The main symptom to watch for in vascular Ehlers-Danlos syndrome (vEDS) is the weakness of the walls of blood vessels and other organs. Vascular EDS directly affects the strength of these walls, making them weak and fragile. This means that they can easily break (rupture). If they rupture, it can lead to serious health problems or death. People with vascular EDS must take care to avoid trauma (such as from collision sports), heavy exercising, and heavy lifting. Moderate exercise is usually okay. Since the blood vessels are weak, people also bruise easily and wounds heal slowly.

Joints are usually very flexible, especially the smaller joints, such as of the hands and feet. For some people, the first symptom that becomes obvious is spontaneous pneumothorax (a collapsed lung). This is when air spontaneously gets in the chest cavity and causes the lungs to collapse. Another common symptom is coughing up blood.

References
Do other diseases look like vascular Ehlers-Danlos syndrome?

Vascular Ehlers-Danlos syndrome is a member of the Ehlers-Danlos syndrome (EDS) group of diseases. There are 6 major types of EDS, and many minor types (which are more rare). All these types of EDS share many common symptoms, like very flexible joints. It is possible for vascular EDS to be mistaken for another type of EDS. The key characteristics that sets vascular EDS apart is that the blood vessels are very weak and fragile. They can easily break (rupture). Other organs (like the intestines and the uterus) can also easily rupture.

Vascular EDS can also be mistaken for other genetic diseases that cause blood vessel problems, such as Loeys-Dietz syndrome, autosomal dominant polycystic kidney disease, and Marfan syndrome. They have similar symptoms, but also some symptoms that are quite different.

References
Are there any typical symptoms of vascular Ehlers-Danlos syndrome that are "odd" or "unique"?

Vascular Ehlers-Danlos syndrome is a member of the Ehlers-Danlos syndrome (EDS) group of diseases. There are 6 major types of EDS, and many minor types (which are more rare). All these types of EDS share many common symptoms, like very flexible joints. A unique group of symptoms that set vascular EDS apart from the other types of EDS is that the blood vessels are very weak and fragile. They can break (rupture) easily. Other organs (like the intestines and the uterus) can also easily rupture. Unlike other types of EDS, people with vascular EDS do not have very stretchy skin. The skin is fragile and thin and many blood vessels are visible underneath. People with vascular EDS bruise easily and wounds heal slowly.

References

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