About Vascular Ehlers-Danlos Syndrome
Vascular Ehlers-Danlos Syndrome is a genetic connective tissue disorder caused by mutations in the COL3A1 gene, which affects the production of type III collagen. This protein is essential for maintaining the strength and elasticity of blood vessels, internal organs, and skin. People with vEDS have extremely fragile arteries and hollow organs that can rupture or dissect with minimal provocation, sometimes even from normal activities.
The condition presents differently at different ages. Children often show minor features like joint hypermobility, easy bruising, and thin skin. Adults typically present with serious vascular emergencies as their first symptoms. The most common life-threatening complications are arterial ruptures (most often in the chest or abdomen), gastrointestinal perforations, and uterine ruptures during pregnancy.
Diagnosis requires genetic testing to identify pathogenic variants in the COL3A1 gene. While there is no cure, management focuses on regular monitoring with imaging studies, medication to reduce stress on blood vessels, activity restrictions, and careful planning for pregnancies.
Common Symptoms of Vascular Ehlers-Danlos Syndrome
Recognizing the signs of Vascular Ehlers-Danlos Syndrome early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.
- Thin, translucent skin with visible veins
- Easy bruising and early-onset varicose veins
- Distinctive facial features: thin lips, small chin, large eyes, narrow nose
- Arterial ruptures, dissection, and aneurysms
- Gastrointestinal perforation
- Premature aging appearance of skin and joints
Who Vascular Ehlers-Danlos Syndrome Affects
Vascular EDS can affect people of any age and gender. About 25% experience life-threatening complications before age 20, and 80% by age 40. The condition is autosomal dominant, meaning only one affected gene copy from either parent is needed to cause the disease. Median survival is approximately 50 years.
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Trusted Vascular Ehlers-Danlos Syndrome Resources
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