Vascular Ehlers-Danlos Syndrome

What is vascular Ehlers-Danlos syndrome?

Vascular Ehlers-Danlos syndrome is one type of Ehlers-Danlos syndrome. It is caused by the body not producing a proper form of collagen, which is used to build connective tissues in the body (such as skin and bones). The signs and symptoms of vascular Ehlers-Danlos syndrome include soft thin skin, easy bruising, very flexible joints (and sometimes dislocations), and a high risk for internal organ damage and serious bleeding. Vascular Ehlers-Danlos syndrome can be diagnosed as early as birth, or as late as adulthood.

How common is vascular Ehlers-Danlos syndrome?

Vascular Ehlers-Danlos syndrome affects about 1 in every 125,000 babies born in the United States each year.

What can be done for vascular Ehlers-Danlos syndrome?

Although there is no cure for vascular Ehlers-Danlos syndrome, identifying this condition early (at or soon after birth) can lead to better monitoring and treatment of symptoms. A team of medical specialists can help people with vascular Ehlers-Danlos syndrome manage their symptoms.

How is vascular Ehlers-Danlos syndrome inherited?

Vascular Ehlers-Danlos syndrome is caused by changes in the COL3A1 gene. It is a dominant genetic condition, which means that a single altered copy of the COL3A1 gene can cause the disease. About half of people with vascular Ehlers-Danlos syndrome inherit the altered gene copy from one of their parents, while the other half of the time an alteration occurs spontaneously in the COL3A1 gene. If a baby is identified as having vascular Ehlers-Danlos syndrome through Eli screening, genetic counseling and additional testing in the parents is recommended.

References

https://www.ncbi.nlm.nih.gov/books/NBK1494/
https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#diagnosis

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