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Vol. 12. Issue 4.
Pages 383-399 (July - August 2006)
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Vol. 12. Issue 4.
Pages 383-399 (July - August 2006)
Artigo de Revisão\Revision Article
Open Access
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
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Diva Ferreira1,
Corresponding author
divafferreira@sapo.pt

Correspondência: Diva de Fátima Gonçalves Ferreira, Rua Conceição Fernandes 4434-502 Vila Nova de Gaia.
, Joana Amado2, Raquel Duarte2, José Almeida2, Paulo Morgado3, Teresa Shiang4
1 Interna complementar de Pneumologia, Centro Hospitalar de Vila Nova de Gaia
2 Assistente Hospitalar de Pneumologia, Centro Hospitalar de Vila Nova de Gaia
3 Assistente Hospitalar de Radiologia, Centro Hospitalar de Vila Nova de Gaia
4 Assistente Graduada de Pneumologia, Centro Hospitalar de Vila Nova de Gaia
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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.

Rev Port Pneumol 2006; XII (4): 383-399

Palavras-chave:
Malformações arteriovenosas pulmonares
telangiectasia hemorrágica hereditária
embolização
Abstract

Pulmonary arteriovenous malformations are a rare disorder associated to hereditary hemorrhagic telangiectasia in over50 % 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 treatment being 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.

Rev Port Pneumol 2006; XII (4): 383-399

Key-words:
Pulmonary arteriovenous malformations
hereditary hemorrhagic telangiectasia
embolization
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Copyright © 2006. Sociedade Portuguesa de Pneumologia/SPP
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