Hamartomatous polyps: Diagnosis, surveillance, and management

World J Gastroenterol. 2023 Feb 28;29(8):1304-1314. doi: 10.3748/wjg.v29.i8.1304.


Hereditary polyposis syndrome can be divided into three categories: Ade-nomatous, serrated, and hamartomatous polyps. Hamartomatous polyps, malformations of normal tissue presenting in a disorganized manner, are characterized by an autosomal dominant inheritance pattern. These syndromes exhibit hamartomatous gastrointestinal polyps in conjunction to extra-intestinal manifestations, which require conscientious and diligent monitoring. Peutz-Jeghers syndrome, Cowden syndrome, and juvenile polyposis syndrome are the most common displays of hamartomatous polyposis syndrome (HPS). Diagnosis can be pursued with molecular testing and endoscopic sampling. Early identification of these autosomal dominant pathologies allows to optimize malignancy sur-veillance, which helps reduce morbidity and mortality in both the affected patient population as well as at-risk family members. Endoscopic surveillance is an important pillar of prognosis and monitoring, with many patients eventually requiring surgical intervention. In this review, we discuss the diagnosis, surveillance, and management of HPS.

Keywords: Cowden syndrome; Hamartomatous polyps; Juvenile polyposis syndrome; Peutz-Jegher syndrome.

Publication types

  • Review

MeSH terms

  • Hamartoma Syndrome, Multiple* / diagnosis
  • Hamartoma Syndrome, Multiple* / genetics
  • Hamartoma Syndrome, Multiple* / therapy
  • Hamartoma*
  • Humans
  • Intestinal Polyps
  • Neoplastic Syndromes, Hereditary* / diagnosis
  • Peutz-Jeghers Syndrome* / complications
  • Peutz-Jeghers Syndrome* / diagnosis
  • Peutz-Jeghers Syndrome* / genetics
  • Polyps*