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SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history
  1. Wendy Chang1,
  2. Patricia Renaut2 and
  3. Casper Pretorius1,3
  1. 1General Surgery, Mackay Base Hospital, Mackay, Queensland, Australia
  2. 2Pathology, Queensland Pathology, Herston, Queensland, Australia
  3. 3James Cook University School of Medicine, Douglas, Queensland, Australia
  1. Correspondence to Dr Wendy Chang; wendy.chang2{at}


Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

  • endoscopy
  • genetics
  • gastrointestinal surgery

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  • Contributors WC wrote the article. CP provided interpretation of endoscopic findings, and insights on pathophysiology. PR provided explanation and description of pathology.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.