Differential Diagnosis for Intestinal Obstruction in a 20-year-old Male with Colonic Polyps

• Single most likely diagnosis:
  • A. FAP polyps: Familial Adenomatous Polyposis (FAP) is a genetic disorder characterized by the development of hundreds to thousands of polyps in the colon and rectum. If left untreated, it almost always leads to colorectal cancer. The presence of colonic polyps and intestinal obstruction in a young patient could be due to the large number of polyps obstructing the intestine, making FAP a likely cause.
• Other Likely diagnoses:
  • D. Peutz-Jeghers Syndrome: This is a genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and an increased risk of certain cancers. The polyps can cause intestinal obstruction, and the syndrome often presents at a young age.
  • B. Juvenile polyps: While typically considered benign and more common in children, large or multiple juvenile polyps can cause intestinal obstruction. However, they are less likely to cause obstruction compared to the polyps seen in FAP or Peutz-Jeghers Syndrome.
• Do Not Miss diagnoses:
  • C. Cowden syndrome: Although less common, Cowden syndrome is a genetic disorder that increases the risk of certain cancers and can cause the development of hamartomatous polyps in the gastrointestinal tract. It's crucial not to miss this diagnosis due to its association with an increased risk of breast, thyroid, and other cancers.
• Rare diagnoses:
  • Other rare syndromes that could potentially cause intestinal obstruction due to polyps, such as PTEN hamartoma tumor syndrome or Lynch syndrome with associated polyp formation, are less likely but should be considered if the more common causes are ruled out. These syndromes have specific genetic markers and are associated with an increased risk of various cancers.