What is the long-term monitoring of patients with Peutz-Jeghers syndrome (PJS)?

Updated: Oct 11, 2018
  • Author: Buu Anh T To, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

Answer

Ideally, patients with Peutz-Jeghers syndrome (PJS) should be followed by a multidisciplinary team that is familiar with the syndrome. The aim of the initial consultation and continued follow-up is to educate the patient and family on the illness, outline a schema for continued disease surveillance, offer genetic counseling and, if appropriate, offer genetic testing to the extended family. Support, including identification of psychologically at-risk individuals, needs to be factored in this holistic management approach. [107] Counseling and testing of asymptomatic but at-risk individuals is directed toward limiting the likelihood of patients presenting with complications, including malignancy, inherent to their disease, as well as providing advice regarding potential preventive strategies, including cancer-surveillance measures.

Periodic surveillance and removal of larger polyps aims to reduce the likelihood of complications in Peutz-Jeghers syndrome. Hence, surveillance for gastric and small-bowel polyposis should begin at age 8-10 years and continue at 2-3–year intervals. [2, 15, 108] When small bowel polyps are present, there is broad consensus amongst quaternary referral centers that they be removed before symptoms and obstruction become evident. A regular surveillance-based, clean-sweep enteroscopy (double-balloon or intraoperative assisted and push enteroscopy) is suggested to reduce the risk of obstruction, surgical resection and, long term, the risk of short bowel syndrome. [109, 110, 111]

Follow-up care should be supervised by a gastroenterologist familiar with Peutz-Jeghers syndrome. Patients should undergo an annual complete blood cell count, as well as an annual physical examination that includes evaluation of the breasts, abdomen, pelvis, and testes. Lifelong cancer surveillance is advocated. [5]


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