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. 2020 Aug 3;7(11):001831.
doi: 10.12890/2020_001831. eCollection 2020.

Osler-Weber-Rendu Syndrome with Severe Hepatic Manifestations: A Rare Clinical Case

Inês Nunes da Silva  1 , Clara Matos  1 , Fábio Correia  1 , Sofia Carola  1 , Maria João Gomes  1 , Teresa Branco  1
Affiliations

Osler-Weber-Rendu Syndrome with Severe Hepatic Manifestations: A Rare Clinical Case

Inês Nunes da Silva et al. Eur J Case Rep Intern Med. .

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.

Learning points: Rendu-Osler-Weber syndrome is a rare autosomal dominant syndrome characterized by systemic arteriovenous malformations (AVMs) with multi-organ involvement, in which the most common manifestation is recurrent epistaxis.In more severe cases the prognosis is determined by organ dysfunction caused by AVMs, including hepatic involvement, which happens in 74-79% of cases, leading to poor outcomes.The treatment is mainly supportive care so early recognition of major organ involvement is fundamental to prevent severe complications.

Keywords: Rendu-Osler-Weber syndrome; arteriovenous malformations; chronic hepatic disease; congestive heart failure; epistaxis.

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Conflict of interest statement

Conflicts of Interests: The Authors declare that there are no competing interests.

Figures

Figure 1
Figure 1
A abdominal CT scan documented multiple arteriovenous malformations between the hepatic artery and the suprahepatic veins and heterogeneity due to numerous micronodular and hypervascular lesions related to vascular malformations and/or millimetric haemangiomas
See this image and copyright information in PMC

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