Successful Treatment of Rare vEDS Case With TAK Reported in Study

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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A first case of vascular Ehlers Danlos syndrome (vEDS) occurring with Takayasu arteritis (TAK) — a rare inflammatory condition in blood vessels — was successfully treated with anti-inflammatory therapy, according to a case report.

“To the best of our knowledge, this is the first case report demonstrating TAK associated with vEDS with a combination of inflammatory and non-inflammatory underlying causes,” the researchers wrote. “This report suggests that vEDS and vasculitis [blood vessel inflammation] may coexist and can be treated by anti-inflammatory agents.” 

The report, “Concurrent Takayasu Arteritis and Vascular Ehlers-Danlos Syndrome: A Case Report,” was recently published in the journal Frontiers in Cardiovascular Medicine

vEDS is a severe form of Ehlers-Danlos syndrome (EDS) that is characterized by fragile blood vessels. Such weakness leads to bulges in blood vessel walls (aneurysms), ruptures, and dissections — blood vessel tearing — which can cause serious internal bleeding. Diagnosis of vEDS is usually confirmed with genetic testing.

TAK is a rare form of vasculitis that predominantly affects the large artery, called the aorta, that carries blood from the heart to the rest of the body, and/or its main branches. While aneurysms and stenosis, or blood vessel narrowing, also are observed in TAK, they are usually caused by inflammation. This differs from vEDS, which is not considered an inflammatory condition.

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While one case of the hypermobile EDS type with TAK has been described, TAK and vEDS have not been previously reported to co-occur.

In this case, a 28-year-old Japanese man was treated at the hospital with a hypovolemic shock — when severe fluid shock makes the heart unable to pump enough blood — secondary to abdominal bleeding.

He had been shown to have high levels of an inflammation marker, blocked blood supply to his kidneys and spleen, and, on the morning of his admission to the team’s hospital, multiple arterial aneurysms that had ruptured.

An MRI showed blockages to the middle cerebral artery, which supplies blood to the brain, and stenosis, aneurysm, and dissection of the carotid artery, which supplies blood to the brain and head.

On neurological examination, the man showed complete paralysis of his right limbs and slurred speech. Lab tests showed the presence of HLA-B52, a molecule previously associated with TAK.

“Consequently, we diagnosed TAK based on the high inflammatory response, positive HLA-B52, perivascular inflammation [surrounding blood vessels] and stenosis, and multiple arterial aneurysms,” the researchers wrote.

The man was successfully treated with an approach that included anti-inflammatory medications, glucocorticoids, and tocilizumab — an antibody therapy approved for some inflammatory conditions. Decreases in inflammation and paralysis were gradual. Eased stenosis of the carotid artery was 0bserved six months later in an outpatient setting.

Although the man had no family history of vEDS, later genetic testing revealed a COL3A1 mutation, the most common cause of vEDS.

While the late vEDS diagnosis in this patient “could have led to catastrophic results,” the initiation of anti-inflammatory therapy for TAK helped prevent more serious outcomes, according to the team.

“Although the presence of vEDS does not change the treatment, the complication of vEDS could lead to rapid progression of rupture or stenosis, as in this case, and late therapeutic intervention could have resulted in a fatal outcome,” the researchers wrote.

The team noted that they had considered several other diagnoses, but “could arrive at a conclusive diagnosis by adequately performing physical examinations, imaging radiography, and blood tests.”

“It is pivotal to perform a systemic differential diagnosis to consider concurrent vasculitis syndrome [i.e. TAK] and non-inflammatory vasculopathy [i.e. vEDS], including hereditary disorders, even within time constraints in patients with multiple aneurysms, stenosis, and dissections, as this could lead to multiple organ [blockages] of undetermined cause,” the team concluded.