Osler-Weber-Rendu Syndrome with Severe Hepatic Manifestations: A Rare Clinical Case
  • Maria Inês Silva
    Internal Medicine Department, Hospital Prof. Dr. Fernando Fonseca EPE, Amadora, Portugal
  • Clara Matos
    Internal Medicine Department, Hospital Prof. Dr. Fernando Fonseca EPE, Amadora, Portugal
  • Fabio Correia
    Internal Medicine Department, Hospital Prof. Dr. Fernando Fonseca EPE, Amadora, Portugal
  • Sofia Carola
    Internal Medicine Department, Hospital Prof. Dr. Fernando Fonseca EPE, Amadora, Portugal
  • Maria João Gomes
    Internal Medicine Department, Hospital Prof. Dr. Fernando Fonseca EPE, Amadora, Portugal
  • Teresa Branco
    Internal Medicine Department, Hospital Prof. Dr. Fernando Fonseca EPE, Amadora, Portugal

Keywords

Rendu-Osler-Weber syndrome, arteriovenous malformations, epistaxis, congestive heart failure, chronic hepatic disease

Abstract

Rendu-Osler-Weber syndrome is a rare inherited syndrome with autosomal dominant transmission characterized by systemic arteriovenous malformations (AVMs) with multi-organ involvement. Its incidence is 1–2/100,000 and it is predominant in females (the male/female ratio varies from 1:2 to 1:4.5).Clinical manifestations and complications are related to recurrent bleeding and, in some cases, the development of end-organ failure. Management is mostly supportive care and it is essential to promote control of the disease as much as possible and screen eventual complications.

We describe the case of a 67-year-old male patient with Rendu-Osler-Weber syndrome admitted to the emergency department with decompensated heart failure due to acute anaemia because of severe epistaxis. During hospitalization, the patient progressed to acute-on-chronic liver failure with hepatic encephalopathy and an abdominal computed tomography scan showed multiple hepatic AVMs considered to be the cause of the chronic liver disease.

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    Published: 2020-08-03
    Issue: 2020: Vol 7 No 11 (view)


    How to cite:
    1.
    Silva MI, Matos C, Correia F, Carola S, Gomes MJ, Branco T. Osler-Weber-Rendu Syndrome with Severe Hepatic Manifestations: A Rare Clinical Case. EJCRIM 2020;7 doi:10.12890/2020_001831.

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