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Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers-Danlos Syndrome: The First

Megumi Furuhata-Yoshimura1,2, Tomomi Yamaguchi1,3,4, Tomoki Kosho1,3,4,5,6

  • 1Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

American Journal of Medical Genetics. Part A
|May 13, 2026
PubMed

Insights

Celiprolol therapy may reduce fatal vascular events in vascular Ehlers-Danlos syndrome (vEDS). This study in Japan suggests celiprolol also offers psychological reassurance for vEDS patients, though nonfatal events persist.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Medicine
  • Rheumatology and Connective Tissue Diseases

Background:

  • Vascular Ehlers-Danlos syndrome (vEDS) is a severe genetic disorder affecting collagen production, leading to life-threatening vascular complications.
  • Previous European studies indicated celiprolol's potential benefit in reducing vascular events in vEDS patients.
  • The efficacy and psychological impact of celiprolol in non-European vEDS populations were not well-established.

Purpose of the Study:

  • To evaluate the effectiveness and psychological impact of celiprolol in a Japanese cohort of vEDS patients.
  • To investigate associations between genotype, celiprolol dosage, and vascular event occurrence.
  • To explore patient experiences with celiprolol therapy for vEDS.

Main Methods:

  • Retrospective cohort study of 26 genetically confirmed vEDS patients (≥20 years) in a Japanese referral center (2000-2024).
  • Data collection included clinical, molecular, and treatment details from medical records.
  • Semi-structured interviews were conducted with 11 patients to assess their experiences and psychological impact.

Main Results:

  • All 26 patients received celiprolol, with 61.5% reaching the target dose (400 mg/day).
  • Over a mean follow-up of 96.6 months, one patient died from hepatic artery rupture; 11 experienced vascular events, while 14 remained event-free.
  • No significant association was found between vascular events and genotype or celiprolol dose. Patient interviews indicated emotional reassurance and proactive disease management.

Conclusions:

  • Celiprolol therapy may reduce fatal vascular events in vEDS patients and positively impact psychological well-being.
  • Nonfatal vascular complications remain a significant concern in vEDS patients treated with celiprolol.
  • Further research is warranted to optimize celiprolol treatment strategies and manage ongoing vascular risks in vEDS.

Keywords:
COL3A1celiprololnon‐Europeansemi‐structured interviewvascular Ehlers–Danlos syndrome (vEDS)

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