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Rendú Osler Weber Syndrome; case report.

Oscar Manuel García Córdova1, Tania Cristina Pérez Morales1, Verónica Andrea Del Pilar Barón Hernández2

  • 1Interventional Radiologist, Departamento de radiología intervencionista, Hospital Regional 1° de Octubre del ISSSTE, Universidad Nacional Autónoma de México, CP 07300, C.D. Mx.

Radiology Case Reports
|June 27, 2022
PubMed
Summary

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder causing abnormal blood vessels. This case study shows embolization improved symptoms and survival in a complex HHT patient.

Keywords:
Arteriovenous fistulaArteriovenous malformationEpistaxisHereditary hemorrhagic telangiectasiaRendu-Osler-Weber

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Area of Science:

  • Genetics and Vascular Medicine

Background:

  • Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder.
  • It is characterized by mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in various organs.

Observation:

  • A 62-year-old female patient presented with recurrent epistaxis and vaginal bleeding.
  • The patient was diagnosed with complex HHT.

Findings:

  • Management with multiple embolization procedures was performed.
  • The treatment led to significant improvement in symptoms and enhanced patient survival.

Implications:

  • Timely diagnosis and individualized treatment are crucial for improving quality of life and survival in HHT patients.
  • Embolization is an effective therapeutic option for managing complex HHT cases.