Ehlers-Danlos syndrome, Vascular type (type IV)

Causes

What gene causes vascular Ehlers-Danlos syndrome?

Vascular Ehlers-Danlos syndrome 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. People with mutations in COL3A1 have collagen that doesn't work properly. This means that their connective tissue does not develop in the right way. Specifically, the blood vessel walls are fragile and can break (rupture) easily. The walls of other organs, like the intestines and uterus are also fragile. These breaks (ruptures) can lead to serious, life-threatening health issues.

References
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Why does vascular Ehlers-Danlos syndrome cause vascular rupture?

Does everyone with vascular Ehlers-Danlos syndrome have a gene mutation?

Does anything make vascular Ehlers-Danlos syndrome worse?

Why does vascular Ehlers-Danlos syndrome cause vascular rupture?

Vascular Ehlers-Danlos syndrome 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. People with mutations in COL3A1 have collagen that didn't form properly, and so it doesn't work properly. Vascular rupture occurs when the weak walls of the blood vessels break and blood escapes. If they occur in an organ, these breaks (ruptures) can lead to serious, life-threatening health issues.

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Does everyone with vascular Ehlers-Danlos syndrome have a gene mutation?

Vascular Ehlers-Danlos syndrome is caused by different 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 properly. Almost everyone who has a mutation in this group will develop vascular Ehlers-Danlos syndrome. The second group of gene mutations reduces the amount of collagen protein in the blood vessels (although it works properly). Not everyone who has this group of mutations will develop vascular Ehlers-Danlos syndrome.

It is important to remember that not all people with vascular Ehlers-Danlos syndrome will have the same symptoms. If you would like to learn more about vascular Ehlers-Danlos syndrome and the symptoms it can cause, speak to your doctor about a referral to see a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.

References
Does anything make vascular Ehlers-Danlos syndrome worse?

People with vascular Ehlers-Danlos syndrome (vEDS) have fragile blood vessels that can break (rupture) easily. The walls of other organs, like the intestines and uterus are also fragile. These breaks (ruptures) can lead to serious health issues or death. Therefore, it is important that people with vascular Ehlers-Danlos syndrome avoid activities that can lead to trauma, such as contact/high-impact sports and heavy lifting. Moderate exercise will generally not make symptoms worse. Since the intestines are fragile, someone with vascular EDS should let their gastrointestinal doctor (GI/gastroenterologist) know about their condition before having a colonoscopy.

References

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