Abstract Introduction Hereditary hemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant vascular condition marked by telangiectasias on mucous membranes and skin, along with visceral arteriovenous malformations (AVMs). Pulmonary AVMs (PAVMs) occur in up to 45% of HHT patients and predispose them to paradoxical embolization, causing neurologic complications. Case Presentation A 55-year-old woman with recurrent childhood epistaxis and a family history of similar symptoms presented with transient right-hand weakness and Wernicke’s aphasia. She was hypoxemic (SpO2 83-90% on room air) and iron-deficient (Hb 8.3 g/dL). Chest auscultation revealed a faint right-sided infrascapular bruit. CT pulmonary angiography (Figure 1.1,1.2) demonstrated multiple bilateral PAVMs with visible feeding arteries and draining veins. Brain CT (Figure 1.3) revealed multiple embolic infarcts consistent with paradoxical embolization but no cerebral AVMs. She underwent successful percutaneous transcatheter embolization of all visible PAVMs. Following embolization, oxygen saturation normalized, and no further neurological events occurred. The patient continues under multidisciplinary follow-up for HHT-related screening, including hepatic and cerebral AVMs. No procedural complications or recurrences were observed over a 6-month follow-up. Discussion The earliest sign of Hereditary hemorrhagic telangiectasia (HHT) is recurrent epistaxis occurring by the second decade of life, which was present in our patient. Diagnosis should be considered in patients with spontaneous epistaxis, telangiectasias, or a positive family history. Pulmonary arteriovenous malformations (PAVMs), seen in up to 45% of HHT patients, may cause neurological complications such as transient ischemic attacks or strokes due to paradoxical embolization. Management of PAVMs involves a combination of interventional radiology, medical, and prophylactic therapy. The combined management aims to minimize embolic complications, prevent, as well as treat hemorrhage from PAVM rupture, and improve pulmonary functional capacity by reducing shunt-related hypoxemia. Minimally invasive Transcatheter embolotherapy is the current standard treatment for PAVMs. Surgical resection of PAVMs is now rarely performed except when urgent treatment is required in settings where expertise in embolotherapy is lacking. Take-home message Early screening and timely embolization of pulmonary arteriovenous malformations (PAVMs) in patients with hereditary hemorrhagic telangiectasia (HHT) are essential to prevent serious hemorrhagic and neurological complications. This abstract is funded by: None
Zobair et al. (Fri,) studied this question.