Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study

Area of Science:

• Genetics
• Cardiology
• Rare Diseases

Background:

• Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder caused by COL3A1 gene variants, leading to severe arterial and organ fragility.
• It is associated with a high risk of premature death due to vascular complications.

Purpose of the Study:

• To describe the outcomes of a large cohort of vEDS patients over a 17-year period.
• To evaluate the long-term efficacy of celiprolol in managing vEDS patients.

Main Methods:

• Retrospective cohort study of 144 molecularly confirmed vEDS patients.
• Patients received celiprolol (≤400 mg/day) as part of their usual care, with yearly follow-ups.
• vEDS-related events and mortality were collected.

Main Results:

• Overall survival was 71.6% after a median follow-up of 5.3 years, influenced by COL3A1 variant type, age, and treatment.
• Patients treated with celiprolol demonstrated significantly better survival (p=0.0004).
• Mortality reduction was dose-dependent, with 400 mg/day offering the best protection (p=0.003).

Conclusions:

• Long-term management of vEDS patients resulted in a low annual occurrence of arterial complications and high survival rates.
• Overall medical care, particularly celiprolol treatment, positively influences vEDS patient outcomes.