Juvenile polyposis syndrome : A Case Report
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Juvenile polyposis syndrome (JPS) is characterized by multiple hamartomatous polyps of the GI tract. The lifetime risk of developing malignancy with this condition is approximately 40%. The condition is inherited autosomal dominantly due to SMAD4 or BMPR1A gene mutations.

A 43‐year‐old male who had a history of JPS and underwent a risk‐reducing surgery in the form of restorative proctocolectomy and ileal pouch anal anastomosis at the outside hospital presented for further management of his condition. Post–pouch surgery, patient had regular endoscopic surveillance for new polyps. The polyp burden was managed with repeated endoscopic resections. He was also medically treated with sulindac for chemoprevention during the same period. However, despite our best efforts, patient developed a significantly high‐volume disease necessitating close and frequent interval polypectomies. He underwent excision of anal pouch and end ileostomy formation as a last attempt to reduce the risk of future malignancy. After the second procedure, new polyps developed over the ileostomy stump (Figure 1) prompting a close clinical, endoscopic, and radiological (MR small bowel) surveillance. Most of the new polyps on the ileostomy stump were treated with electro‐cautery excision in an office‐based setting (Figure 2).

Case highlights the natural history of disease progression in JPS patients which appears to be different to other bowel polyposis syndromes such as familial adenomatous polyposis (FAP). In this case, clinical surveillance besides regular imaging and endoscopic surveillance after GI surgery helped diagnose and treat new polyps before they turn malignant. This due to an increased risk (50%‐60%) malignancy associated with JPS.