Outcomes in Vascular Ehlers-Danlos Syndrome

Study Questions:

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

Methods:

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.

Results:

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.

Conclusions:

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.

Perspective:

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.

Clinical Topics: Prevention, Vascular Medicine

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


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