Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

Abstract

Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and requires multiple specialists who can respond to and manage the major complications. A summary of recommendations for management include: Identify causative variants in COL3A1 prior to application of diagnosis, modulate life style to minimize injury, risk of vessel/organ rupture, identify and create care team, provide individual plans for emergency care ("vascular EDS passport") with diagnosis and management plan for use when traveling, centralize management at centers of excellence (experience) when feasible, maintain blood pressure in the normal range and treat hypertension aggressively, surveillance of vascular tree by doppler ultrasound, CTA (low radiation alternatives) or MRA if feasible on an annual basis. These recommendations represent a consensus of an international group of specialists with a broad aggregate experience in the care of individuals with vascular EDS that will need to be assessed on a regular basis as new information develops.

Utilization of echocardiography in Ehlers‐Danlos syndrome

“…Ehlers‐Danlos (EDS) is a group of heritable connective tissue disorders . Despite some overlapping minor clinical features, namely joint hypermobility, skin hyperextensibility, and tissue fragility, major cardiovascular features are limited to only one or two of six major subtypes . While this may be well known to those routinely providing care to these patients, a single eponym for multiple distinct disorders requiring different management strategies provides a great deal of confusion for patients and providers alike.…”

“…The diagnosis of hEDS is clinical as there is no confirmatory laboratory test. In contrast to hEDS, the vascular form of Ehlers‐Danlos syndrome (vEDS) is quite rare with a prevalence of 1/50 000 and is associated with significant morbidity and mortality . While the diagnosis of vEDS can be suspected on the basis of clinical features, it is confirmed with genetic testing showing a COL3A1 mutation .…”

“…While the diagnosis of vEDS can be suspected on the basis of clinical features, it is confirmed with genetic testing showing a COL3A1 mutation . Patients with vEDS have characteristic facial features, and generalized hypermobility is not a mainstay of the diagnosis …”

Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses

“…Despite that, the prevalence of the different HTAAD diagnoses is poorly described it is assumed that MFS is more common and well‐known than the other HTAAD diagnoses. The prevalence of MFS (10/100 000) is higher compared to LDS (2/100 000) and vEDS (0.5‐ 2/100 000) . The prevalence of the other HTAAD diagnoses is even rarer.…”

“…The prevalence of MFS (10/100 000) 59,60 is higher compared to LDS (2/100 000) 61 and vEDS (0.5-2/100 000). 62 The prevalence of the other HTAAD diagnoses is even rarer. Over the prior two decades there has been exponential increase in genetic research on the mutations explaining the HTAADs.…”