Extrahepatic portal vein obstruction associated with juvenile polyposis-hereditary haemorrhagic telangiectasia overlap syndrome.

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterised by epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations (AVMs) in various organs. When linked to mutations in the SMAD4 gene, it also involves multiple hamartomatous polyps; this condition is known as juvenile polyposis syndrome-HHT (JP-HHT) overlap syndrome. Typically considered a bleeding disorder, HHT is associated with an increased risk of vascular thrombosis. Early diagnosis and genotyping can significantly reduce morbidity and mortality in patients with JP-HHT overlap by allowing appropriate screening for complications. Treatment mainly aims to manage symptoms and complications. We present the case of a 32-year-old man exhibiting features of extrahepatic portal venous obstruction with portal hypertension and JP-HHT overlap, along with a review of the literature.