Outcomes in Vascular Ehlers-Danlos Syndrome

Study Questions:

What are the long-term outcomes associated with vascular Ehlers-Danlos Syndrome (vEDS)?


Patients referred to a large referral center with confirmed COL3A1 gene mutations consistent with vEDS were followed for up to 17 years. Patients were recommended to receive celiprolol (≤400 mg/day) in addition to usual care and annual follow-up. vEDS-related events and death were assessed for all patients.


Between 2000 and 2017, 144 patients were followed. They were young (median age 34.5 years at diagnosis). With a median follow-up of 5.3 years, patient survival was high (71.6%; 95% confidence interval, 50%-90%). Survival was higher among patients treated with celiprolol than those using other (or no) medical therapy (80.7% vs. 48.5%, p = 0.0002). Similarly, treatment with celiprolol 400 mg/day was associated with better survival than doses <400 mg/day (85% vs. 69.2%, p = 0.035). Despite 51% presenting with a prior arterial event or lesion at the time of clinic enrollment, the median future arterial event rate was low (1.6 events/5 years; interquartile range, 0.9-3.0) and did not differ by medical therapy.


The authors concluded that patients with vEDS experience low annual rates of arterial complications and high survival. They also concluded that use of celiprolol was associated with better survival.


Patients with vEDS frequently present with a history of early-onset and/or multiple vascular anomalies, such as arterial aneurysms or dissection. Management is largely supportive with frequent screening for newly developed/worsened aneurysms and prophylactic surgical intervention. In the previously published BBEST study (Ong KT, et al., Lancet 2010;376:1476-84), use of celiprolol (a β1 antagonist and β2 partial agonist) resulted in reduced cardiovascular morbidity and mortality. This retrospective, single-center study largely confirms these findings. While the results are promising, this medication is currently not Food and Drug Administration-approved in the United States.

Keywords: Aneurysm, Aneurysm, Dissecting, Ataxia, Celiprolol, Drug Therapy, Ehlers-Danlos Syndrome, Mutation, Secondary Prevention, Treatment Outcome, Vascular Diseases

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