[Pulmonary arteriovenous malformations - association with hereditary hemorrhagic telangiectasia. Clinical cases and family screening]

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 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.