Vascular Ehlers-Danlos Syndrome (VEDS) is a rare genetic disorder affecting the body’s connective tissues. It stems from a mutation in the COL3A1 gene, which produces type III collagen. This protein provides strength and elasticity to blood vessels and organs. Due to this genetic alteration, individuals with VEDS have fragile tissues prone to tearing.
Characteristic Physical Features
Individuals with VEDS often present with observable external signs, particularly in their facial appearance. Common features include large, prominent eyes, a small chin, sunken cheeks, and a thin nose with thin lips. Some may also have small earlobes or ears that appear to stick out.
The skin of a person with VEDS is typically thin and translucent, making underlying blood vessels, especially on the chest and abdomen, highly visible. Severe bruising can occur from even minor trauma, a result of fragile blood vessels just beneath the skin’s surface.
The hands and feet may exhibit acrogeria, a prematurely aged appearance of the skin on these extremities. Hypermobility is frequently observed, though it is usually limited to smaller joints such as the fingers and toes, distinguishing it from other forms of Ehlers-Danlos Syndrome.
Major Vascular Events
The vascular system is a major concern in VEDS due to weakened arterial walls. Arterial dissection, a tear in the inner layer of an artery wall, can occur spontaneously in any artery, including major vessels like the aorta. The aorta is the body’s largest artery, carrying blood from the heart.
Arterial rupture, where the weakened vessel wall completely breaks, poses an immediate threat. These ruptures can be preceded by an aneurysm, a localized bulge in the artery wall caused by inherent fragility. Both dissection and rupture often manifest as sudden, severe pain. The pain can be described as sharp, tearing, or ripping, and its location depends on the affected artery.
For instance, an aortic dissection typically causes intense pain in the chest or back, though it can also present in the abdomen. Other accompanying symptoms might include nausea, shortness of breath, fainting, or loss of pulse in an affected limb. These vascular events represent medical emergencies requiring immediate attention to mitigate life-threatening consequences. Spontaneous arterial rupture is most likely to occur in a person’s twenties or thirties, but can happen at any point in life.
Internal Organ Complications
Beyond the vascular system, the fragility of connective tissues in VEDS extends to hollow organs, posing distinct risks. One significant concern is the spontaneous rupture of the colon, particularly the sigmoid colon. This can lead to peritonitis, a severe infection of the abdominal lining, as intestinal contents leak into the sterile abdominal cavity. Such an event typically presents with acute abdominal pain that can be localized or widespread.
For women with VEDS, pregnancy introduces a heightened risk of uterine rupture, especially during the later stages of gestation and labor. This is a grave obstetric complication that endangers both the mother and the baby. Signs of uterine rupture can include acute, severe lower abdominal pain, sometimes described as a ripping sensation, and changes in the shape of the abdomen.
Another potential complication arising from tissue fragility is spontaneous pneumothorax, or lung collapse. This occurs when air or gas accumulates in the space between the lung and the chest wall, preventing the lung from fully inflating. Symptoms can include sudden chest pain, which may feel sharp or like tightness, along with shortness of breath, rapid heart rate, and coughing. Spontaneous pneumothorax can even precede the diagnosis of VEDS in some individuals.
The Diagnostic Pathway
The journey to a VEDS diagnosis typically begins with a clinical assessment based on observed signs and a patient’s medical history. Clinicians look for a combination of the characteristic physical features, such as thin, translucent skin and the distinctive facial appearance, alongside a history of vascular or organ complications. These clinical indicators serve as important clues, guiding further investigation.
A detailed family history is also a valuable component of the diagnostic process. Since VEDS is an inherited condition, typically passed down in an autosomal dominant manner, a family history of unexplained arterial ruptures, bowel perforations, or sudden deaths at a young age can strongly suggest the presence of VEDS. Approximately half of individuals diagnosed with VEDS inherit the COL3A1 mutation from an affected parent.
The definitive diagnosis of VEDS is confirmed through genetic testing. This testing specifically aims to identify a pathogenic variant in the COL3A1 gene. Genetic analysis provides conclusive evidence of the underlying cause, distinguishing VEDS from other connective tissue disorders that may present with similar symptoms. This confirmation is important for guiding management and informing at-risk family members.