New study finds higher vascular complication risk in males with vEDS
Analysis of 557 patients shows earlier vascular disease and higher mortality
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Males with vascular Ehlers-Danlos syndrome (vEDS) face a higher risk of certain blood vessel complications and poorer survival than female patients, according to a large study.
By analyzing data from more than 550 people with vEDS, researchers found that males were more likely to develop aortic and arterial disease at younger ages and had higher overall mortality rates, particularly from aortic and other arterial events. The aorta is the body’s main artery, carrying oxygen-rich blood from the heart to the rest of the body.
According to the researchers, the study may “lay the groundwork for improving early diagnosis, risk stratification, and care management of affected individuals.”
The study, “Sex Differences in Aortopathy, Arteriopathy, and Mortality in Vascular Ehlers-Danlos Syndrome,” was published in the Journal of Vascular Surgery.
Understanding vascular Ehlers-Danlos syndrome
vEDS is a form of Ehlers-Danlos Syndrome (EDS), a group of connective tissue disorders mostly caused by defects in the production or function of collagen, a key structural protein. vEDS is usually caused by mutations in the COL3A1 gene, which provides instructions for making part of type III collagen, resulting in weak, fragile blood vessels and skin that bruises easily.
People with vEDS commonly experience aneurysms, bulges that form in weakened blood vessels, as well as ruptures or dissections (tears) that can lead to serious bleeding.
In this study, researchers examined sex differences in the risk of conditions affecting the aorta (aortopathy) and other arteries (arteriopathy) in people with vEDS.
The study included 557 patients with COL3A1 mutations, with a mean age of 32.3 years at genetic diagnosis, and a slight majority were female (55.5%). Slightly more than half had a family history of aneurysm, dissections, sudden death, or a known vEDS diagnosis.
Common symptoms included easy bruising (40.6%), thin or translucent skin (34.1%), joint hypermobility — when joints move beyond the normal range (24.4%) — and characteristic facial features (19.9%). Coexisting conditions included abnormal skin findings, hypertension (high blood pressure), and inguinal hernia, which occurs when tissue such as part of the intestine pushes through a weak area in the abdominal muscles.
In both sexes, the most common type of disease-causing genetic changes was missense mutations (61.4%), which occur when a change in one DNA building block results in a different amino acid in the resulting protein.
Males were significantly younger than females at the start of the study (35.8 vs. 39.2 years) and more likely to have hypertension, hemoptysis (coughing up blood), inguinal hernia, and spontaneous pneumothorax, or collapsed lung.
Study examines vascular complications and survival
Aortopathy and/or arteriopathy were diagnosed in 65.2% of the patients, at a mean age of 35.8 years. These conditions most often affected branches of the aorta, including visceral arteries (23.2%), which supply blood to abdominal organs such as the intestines and liver, and iliac arteries (18.9%), which supply blood to the pelvis and legs. Ruptures of the aorta or other arteries occurred in 8.8% of patients.
The median survival time was 69 years. About one quarter of the patients died, at a mean age of 35.7 years. Among patients with a known cause, most cases were linked to aortic events (58.3%) or other arterial events (33%), while about 20% had an unknown cause.
Aortopathy and arteriopathy were significantly more common in males than in females (74.2% vs 57.9%). These events also tended to occur at younger ages in males (34.4 vs 37.3 years). According to the researchers, this pattern was “largely due to increased incidence of aortic/arterial events in male individuals younger than 20 years. This difference narrowed with increasing age and there were minimal differences in aortopathy/arteriopathy events by age 40 years.”
Males also had a higher all-cause mortality rate (32.3% vs 20.4%) and showed a trend toward higher aortic-related mortality (53.7% vs 38.1%).
In contrast, females had higher rates of carotid-cavernous fistulas — abnormal connections allowing blood to flow from the carotid artery into the cavernous sinus at the base of the skull — and spontaneous coronary artery dissections.
