Vascular Ehlers-Danlos Syndrome (vEDS)
Description
Vascular Ehlers-Danlos Syndrome (vEDS) is a rare, inherited disorder that primarily affects the blood vessels. It is characterized by fragile blood vessels that are prone to rupture, leading to serious health complications. This blog post aims to provide comprehensive information on vEDS, covering its signs and symptoms, causes, inheritance patterns, diagnosis, management, and strategies for thriving with the condition.
Genes Involved
Genes Involved in vEDS:
The most commonly affected gene in vEDS is COL3A1. This gene provides instructions for producing the protein collagen type III, which is essential for the structure and integrity of blood vessels, skin, and other connective tissues. Mutations in the COL3A1 gene disrupt collagen production, leading to the fragile blood vessels characteristic of vEDS.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of vEDS can be crucial for early diagnosis and intervention. Common signs and symptoms include:
- Fragile blood vessels: This is the hallmark of vEDS, leading to easy bruising, spontaneous bleeding, and a high risk of blood vessel rupture.
- Thin, translucent skin: The skin may appear thin, stretchy, and prone to tearing.
- Hypermobility of joints: Individuals with vEDS often have extremely flexible joints, which can lead to dislocations and chronic pain.
- Delayed wound healing: Wounds may take longer to heal and are prone to reopening.
- Varicose veins and hernias: These conditions can occur due to weakened blood vessels and connective tissue.
- Organ rupture: The fragility of blood vessels can lead to organ rupture, especially in the digestive tract and uterus.
Causes
Causes of Vascular Ehlers-Danlos Syndrome:
- Genetic mutation: vEDS is caused by a mutation in the COL3A1 gene, which is inherited in an autosomal dominant pattern. This means that if one parent carries the mutated gene, there is a 50% chance that their child will inherit the condition.
Inheritance/recurrence risk
Inheritance and Recurrence Risk:
As vEDS is inherited in an autosomal dominant pattern, individuals with the condition have a 50% chance of passing it on to their children. If one parent has vEDS and the other parent does not, there is a 50% chance that each child will inherit the disorder. If both parents have vEDS, there is a 75% chance that each child will inherit the condition.
