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Revista Portuguesa de Pneumologia

versão impressa ISSN 0873-2159

Rev Port Pneumol v.12 n.4 Lisboa jul. 2006

 

Malformações arteriovenosas pulmonares – Associação a telangiectasia hemorrágica hereditária

Casos clínicos e rastreio familiar

Pulmonary arteriovenous malformations – Association with hereditary hemorrhagic telangiectasia.

Clinical cases and family screening

 

Diva Ferreira1

Joana Amado2

Raquel Duarte2

José Almeida2

Paulo Morgado3

Teresa Shiang4

 

 

Resumo

As malformações arteriovenosas pulmonares são raras e mais de metade dos casos surgem em associação a telangiectasia hemorrágica hereditária. Faz-se uma revisão teórica sobre a apresentação clínica, abordagem diagnóstica, terapêutica e prognóstico destas malformações vasculares. Estão associadas a morbilidade e mortalidade consideráveis, pelo que se preconiza o seu tratamento, assim como o rastreio dos familiares directos quando se identificam malformações arteriovenosas pulmonares num doente com telangiectasia hemorrágica hereditária. Ainda não existem estudos prospectivos que estabeleçam o melhor plano de estudo do doente e seus familiares. Descrevem-se dois casos clínicos de malformações arteriovenosas pulmonares no contexto familiar de telangiectasia hemorrágica hereditária. A identificação das doentes implicou o rastreio familiar que permitiu detectar malformações arteriovenosas pulmonares em dois familiares e excluir o envolvimento pulmonar em quatro familiares com a doença.

Palavras-chave: Malformações arteriovenosas pulmonares, telangiectasia hemorrágica hereditária, embolização.

 

 

Abstract

Pulmonary arteriovenous malformations are a rare disorder associated to hereditary hemorrhagic telangiectasia in over 50% of the cases. Clinical presentation, diagnostic work-up, therapeutic options and prognosis are reviewed by the authors. Pulmonary arteriovenous malformations are known to have considerable morbidity and mortality, their treatmentbeing advisable as well as their screening among family members, especially if the index case is diagnosed with both pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. To this moment prospective studies establishing the best diagnostic work-up for the patients and their families are lacking. The authors report two pulmonary arteriovenous malformations cases in a family with hereditary hemorrhagic telangiectasia. Patient’s diagnosis led to family screening which resulted in the identification of pulmonary arteriovenous malformations in two family members and pulmonary disease exclusion in four patients previously known to have hereditary hemorrhagic telangiectasia.

Key-words: Pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, embolization.

 

 

Texto completo disponível apenas em PDF.

Full text only available in PDF format.

 

 

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1 Interna complementar de Pneumologia

2 Assistente Hospitalar de Pneumologia

3 Assistente Hospitalar de Radiologia

4 Assistente Graduada de Pneumologia

Centro Hospitalar de Vila Nova de Gaia

 

Recebido para publicação/received for publication: 06.03.21

Aceite para publicação/accepted for publication: 06.05.12