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<p>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 <i>SMAD4</i> 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.</p>

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

  • 期刊论文

  • 发表日期：

    2025年12月4日

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  • Amit Bagrodia,
  • Venkatesh Vaithiyam,
  • Ujjwal Sonika,
  • Surbhi Goyal,
  • Siddharth Srivastava,
  • Sanjeev Sachdeva

摘要

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.