Jornal Vascular Brasileiro
https://jvascbras.org/article/doi/10.1590/1677-5449.202301331
Jornal Vascular Brasileiro
Therapeutic Challenge

Malformações arteriovenosas pulmonares na síndrome de Rendu-Osler-Weber

Pulmonary arteriovenous malformations in Rendu-Osler-Weber syndrome

Cristiane Ferreira de Araújo-Gomes; Carlos Eduardo Virgini-Magalhães; Leonardo Silveira de Castro; Eduardo de Oliveira Rodrigues Neto; Alex Antunes Bezerra; Monica Rochedo Mayall; Cristina Ribeiro Riguetti-Pinto; Felipe Borges Fagundes

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Resumo

A síndrome de Rendu-Osler-Weber, também conhecida como telangiectasia hemorrágica hereditária, é uma doença hereditária autossômica dominante. Ela é caracterizada pela presença de múltiplas malformações arteriovenosas e telangiectasias. Este artigo relata dois casos de pacientes com síndrome de Rendu-Osler-Weber que apresentaram malformações arteriovenosas pulmonares e foram submetidos a tratamento endovascular com sucesso. Uma breve revisão da literatura mostra que até 50% dos pacientes com a síndrome têm malformações arteriovenosas pulmonares e geralmente há um histórico familiar positivo nesses pacientes. Em 30% dos casos, elas são múltiplas e estão associadas a complicações mais graves da doença. A maioria dos pacientes é assintomática, mesmo na presença de malformações arteriovenosas com shunt direito-esquerdo. Quando esses shunts excedem 25% do volume total de sangue, podem surgir dispneia, cianose, baqueteamento digital e sopros extracardíacos. O tratamento endovascular oferece segurança e controle das complicações da telangiectasia hemorrágica hereditária, sendo atualmente o tratamento de escolha para essas lesões.

Palavras-chave

embolização terapêutica; fístula arteriovenosa; telangiectasia hemorrágica hereditária; Rendu-Osler-Weber

Abstract

Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia, is an autosomal dominant hereditary disorder. It is characterized by presence of multiple arteriovenous malformations (AVMs) and telangiectasias. This article reports two cases of patients with Rendu-Osler-Weber syndrome who had pulmonary AVMs and underwent successful endovascular treatment. A brief review of the literature shows that up to 50% of patients with the syndrome have pulmonary AVMs and there is usually a positive family history in these patients. These pulmonary AVMs are multiple in 30% of cases and are associated with the most severe disease complications. Most patients are asymptomatic, even in the presence of AVMs with right-left shunts. When these shunts exceed 25% of the total blood volume, dyspnea, cyanosis, digital clubbing, and extracardiac murmurs may occur. Endovascular treatment is safe and offers control of complications from hereditary hemorrhagic telangiectasia and is currently the treatment of choice for these lesions.

Keywords

embolization, therapeutic; arteriovenous fistula; telangiectasia, hereditary hemorrhagic; Rendu-Osler-Weber.

References

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Submitted date:
09/06/2023

Accepted date:
12/11/2023

Sociedade Brasileira de Angiologia e Cirurgia Vascular (SBACV)"> Sociedade Brasileira de Angiologia e Cirurgia Vascular (SBACV)">
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