Peutz-Jeghers syndrome natural history, complications, and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]

Overview

If left untreated, patients with Peutz-Jeghers syndrome may progress to develop rectal bleeding, anemia, intussusception, bowel obstruction, and abdominal pain. Common complications of Peutz-Jeghers syndrome include colon cancer, and cachexia.[1] Prognosis is generally good if polypectomy was performed before any dysplastic degenerations take place.

Natural History

Without screening, patients with Peutz-Jeghers syndrome may develop symptoms of intestinal cancers (colon cancer) and extra intestinal cancers (e.g. pancreatic cancer and lung cancer), which will eventually lead to death.

Complications

Complications that can develop as a result of Peutz-Jeghers syndrome are:[2]

Prognosis

Almost half of Peutz-Jeghers patients die from cancer by age 57 years, and the cumulative risk of developing a form of cancer associated with Peutz-Jeghers syndrome between ages 15-64 is 93%.[4]

References

  1. Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007 Sep. 4(9):492-502.
  2. http://radiopaedia.org/articles/peutz-jeghers-syndrome-2
  3. Butt N, Salih M, Khan MR, Ahmed R, Haider Z, Shah SH (2012). "An incidentally discovered asymptomatic para-aortic paraganglioma with Peutz-Jeghers syndrome". Saudi J Gastroenterol. 18 (6): 388–91. doi:10.4103/1319-3767.103432. PMC 3530995. PMID 23150026.
  4. "eMedicine - Peutz-Jeghers Syndrome : Article by Andrea Duchini, MD". Retrieved 2007-07-21.

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