Vascular Ehlers-Danlos Syndrome (vEDS) is a rare, inherited disorder affecting connective tissues throughout the body. It is recognized as the most severe form within the Ehlers-Danlos syndrome family due to the fragility of blood vessels and hollow organs. The condition results from a mutation, most often in the COL3A1 gene, which provides instructions for making Type III collagen. This collagen is a main structural component of the walls of arteries, intestines, and the uterus. A defect in Type III collagen compromises the strength and integrity of these tissues, leading to life-threatening symptoms. Recognizing the signs of vEDS is important because early diagnosis can influence management and outcomes.
Defining Physical Characteristics
The connective tissue fragility in vEDS manifests through several chronic, visible features. A hallmark sign is thin, translucent skin, particularly noticeable on the chest, abdomen, and extremities. This thinness allows underlying veins to be clearly visible, especially in fair-skinned individuals.
Individuals with vEDS also experience easy and extensive bruising, which may occur spontaneously or with minimal trauma. This bruising is a direct result of fragile capillaries and blood vessels near the skin’s surface. Another physical trait is acrogeria, which refers to an aged, wrinkled appearance of the skin on the hands and feet.
Hypermobility, or excessive flexibility, is typically limited to the small joints, such as the fingers and toes, unlike other types of Ehlers-Danlos syndrome. Many individuals also share a characteristic facial appearance, including a narrow nose, thin lips, a small chin, and prominent eyes. Less common findings include early-onset varicose veins and gingival fragility.
The Major Vascular and Organ Risks
The defining characteristic of vEDS is the fragility of medium-sized arteries and hollow organs, which presents the most serious health risks. The weakened walls of blood vessels are prone to three main types of failure: aneurysm, dissection, and rupture.
Vascular Events
An arterial aneurysm is a bulge in the artery wall that can burst, leading to severe internal bleeding. Arterial dissection involves a tear in the inner layer of the blood vessel wall, allowing blood to flow between the layers and separate them. This creates a compromised area that can lead to rupture and is considered a medical emergency. These vascular events can occur in any artery, including the aorta, and often present as sudden, unexplained pain in the abdomen, chest, or head.
Organ Rupture
The connective tissue fragility extends to hollow organs, making them susceptible to spontaneous rupture. The gastrointestinal tract is frequently affected, with spontaneous perforation or rupture of the bowel, most commonly the sigmoid colon. Symptoms of a bowel rupture, such as acute abdominal pain, demand immediate surgical attention.
For women, pregnancy carries an increased risk of complications, particularly uterine rupture during the third trimester. Spontaneous pneumothorax, the sudden collapse of a lung, is another potential risk associated with the fragility of the tissue surrounding the lungs. These major complications can be the first indication of vEDS in previously undiagnosed adults.
Clinical Assessment and Diagnosis
Diagnosis of vEDS typically begins with a thorough clinical assessment based on physical signs and a detailed family history. Clinicians look for major features, such as a history of arterial or intestinal rupture before the age of 40, or a confirmed family history of vEDS. The presence of several minor features, like easy bruising, translucent skin, and small joint hypermobility, may also raise suspicion.
Genetic testing is required to confirm the diagnosis. This testing involves analyzing a blood or saliva sample to identify a pathogenic variant in the COL3A1 gene. Genetic testing is highly effective, detecting the causative mutation in nearly all individuals with a clinical diagnosis.
Genetic confirmation is important because it rules out other connective tissue disorders that may share similar symptoms, a process known as differential diagnosis. Identifying the specific genetic change is also helpful for family members who may be at risk. An accurate diagnosis enables the patient and healthcare providers to implement appropriate monitoring and preventative strategies.
Managing Symptoms and Reducing Risk
While there is no cure for vEDS, management focuses on minimizing risk and preventing life-threatening events. Lifestyle modifications are a significant component of risk reduction, centered on avoiding activities that place undue stress on the fragile tissues. This includes abstaining from contact sports, heavy weightlifting, and any activity that involves muscle straining or sudden jarring of the body.
Medication is often used to manage vascular stress, with beta-blockers frequently prescribed to lower blood pressure and heart rate. Medications like atenolol or metoprolol reduce the force of blood flow against the artery walls, theoretically lessening the risk of dissection or rupture. Angiotensin receptor blockers may also be used to help control blood pressure.
Regular vascular monitoring is necessary for early detection of problems like aneurysms or dissections. Non-invasive imaging techniques, such as magnetic resonance angiography (MRA) or computed tomography angiography (CTA), are preferred over conventional methods to avoid potential vessel damage. A multidisciplinary team including a cardiologist, vascular surgeon, and geneticist provides specialized, coordinated care.