biostudies-literatureUnknown11(9)Floria MHereditary hemorrhagic telangiectasia is a rare autosomal dominant vascular disease defined by the presence of mucosal and cutaneous telangiectasia and visceral arterio-venous malformations. The latter are abnormal capillary-free direct communications between the pulmonary and systemic circulations with the following consequences: arterial hypoxemia caused by right-to-left shunts; paradoxical embolism with transient ischemic attack or stroke and brain abscess caused by the absence of the normally filtering capillary bed; and hemoptysis or hemothorax due to the rupture of the thin-walled arterio-venous malformations (particularly during pregnancy). It is frequently underdiagnosed, commonly presenting as complications from shunting through arterio-venous malformations: dyspnea, chronic bleedJournal of clinical medicine2634https://www.ebi.ac.uk/biostudies/studies/S-EPMC9105924biostudies-literatureHereditary Hemorrhagic Telangiectasia and Arterio-Venous Malformations-From Diagnosis to Therapeutic Challenges.PMC9105924Cobzeanu MDIov DEDrug VLSirbu ODranga MFloria MNafureanu EDTanase DMOuatu ABarboi OBfalseHereditary Hemorrhagic Telangiectasia and Arterio-Venous Malformations-From Diagnosis to Therapeutic Challenges.Hereditary hemorrhagic telangiectasia is a rare autosomal dominant vascular disease defined by the presence of mucosal and cutaneous telangiectasia and visceral arterio-venous malformations. The latter are abnormal capillary-free direct communications between the pulmonary and systemic circulations with the following consequences: arterial hypoxemia caused by right-to-left shunts; paradoxical embolism with transient ischemic attack or stroke and brain abscess caused by the absence of the normally filtering capillary bed; and hemoptysis or hemothorax due to the rupture of the thin-walled arterio-venous malformations (particularly during pregnancy). It is frequently underdiagnosed, commonly presenting as complications from shunting through arterio-venous malformations: dyspnea, chronic bleed2022-01-01T00:00:00Z2022 May2025-04-18T21:52:06.432Z2025-04-07T09:41:40.16ZS-EPMC91059243556675910.3390/jcm11092634