Arterial Monitoring in vEDS Common Practice in Europe, Study Says

The practice is not recommended for children without symptoms of the disease

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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Screening and monitoring of arteries — the blood vessels carrying blood from the heart to other organs — in adults with vascular Ehlers-Danlos syndrome (vEDS) is common practice in Europe, despite a lack of clear guidelines, a study reports.

In contrast, arterial monitoring in young children without symptoms should not be universal as its usefulness is disputed, the researchers noted.

The study, “Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN),” was published in the European Journal of Medical Genetics.

vEDS, the most severe form of EDS, is marked by abnormalities in the vascular system, including spontaneous arterial dissections (tears in blood vessels), aneurysms (bulges), and even arterial ruptures.

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It’s mainly caused by mutations in the COL3A1 gene, which contains the instructions to produce type III collagen, an abundant collagen in soft tissues implicated in wound healing and is a structural component of large blood vessels.

Imaging of blood vessels and vascular surgery are safe procedures that could benefit vEDS patient management. However, “vascular imaging in the detection of early signs of arterial wall weakness has not been systematically explored in vEDS,” the researchers wrote.

A previous study reported that arterial monitoring of vEDS patients was linked to improved outcomes. Other studies also have emphasized the importance of regular screening for arterial diseases.

Now, a team in Europe conducted a survey to assess the currently used surveillance and monitoring strategies of arteries in vEDS.

The survey, comprised of 16 questions, was sent to all five centers in four countries (France, Belgium, The Netherlands and Cyprus) that are part of the Medium Sized Arteries (MSA) working group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) and to six other expert centers in the Netherlands and United Kingdom. The MSA mainly includes cardiologists and clinical geneticists.

The 11 centers included in the survey followed 441 vEDS patients (414 adults, 27 teenagers and children). About half (223) were index cases, meaning they were the first identified among a family or population, and 9% carried a mutation in the COL3A1 gene that impaired the sufficient production of its respective protein.

The majority of the surveyed centers agreed about the importance of monitoring arteries in clinically silent (unsuspected) vEDS patients. As such, 271 patients (61%) were seen regularly for arterial monitoring.

According to the survey, monitoring ranged from every year to every five years, but its frequency was adapted based on the type of COL3A1 mutation in some centers.

The most commonly used imaging techniques included magnetic resonance angiography (MRA), computed tomography angiography (CTA), and a combination of CTA, MRA, and duplex ultrasound (DUS).

Both CTA and MRA are used to visualize the body’s blood vessels. While in CTA a special dye is injected into the blood to produce pictures of blood vessels, a MRA uses a magnetic field and radio waves. In DUS, two types of ultrasounds are used to see how blood moves through arteries and veins.

The majority of centers (seven of 10) conducted arterial monitoring from the head to the pelvis. Three centers confined it to the thorax and abdomen, and only one center extended monitoring to the lower part of the body.

The age to test for genetic mutations in children without symptoms and with a parent with vEDS varied across the centers. Five of nine centers conducted the genetic testing at any age up to 18, while the other four centers only tested patients ages 13–18.

At least 20 children were genetically confirmed to have vEDS, despite the lack of symptoms. All were being followed.

Monitoring of arteries either began during childhood or during the teenage years (in each case, four out of nine centers). One center adapted the age to start screening in accordance with the parents.

MRA was the most commonly used imaging technique, followed by DUS. One center used CTA as the main imaging technique for children.

Overall, “this survey showed that arterial monitoring of adult clinically silent vEDS patients is standard clinical practice in European expert centres,” the researchers wrote, adding that its frequency “should be adapted individually according to personal history of arterial events, type of variant, at risk arterial territories, age of patients and family history.”

Monitoring of children under 13 is not recommended on a regular basis, however, as “it is not known if any arterial defects were identified that could justify this strategy.”