Juvenile polyposis syndrome (review)

Juvenile polyposis syndrome (JPS), a rare disease with an autosomal dominant mode of inheritance, which is characterized with the presence of multiple polyps in various parts of the gastrointestinal tract, mainly in the colon. The detection of adenomatous polyps in patients with JPS, in addition to juvenile ones, significantly complicates the differential diagnosis with familial adenomatous polyposis, in which it is necessary to perform a radical surgery — proctocolectomy. Only in 40-60% of cases, pathogenic variants of the SMAD4 and BMPR1A genes can be identified, each of which is characterized with its own clinical manifestations. Treatment options for patients with JPS include endoscopic and surgical; however, the decision-making algorithm, as well as the timing of postoperative follow-up, are not evaluated in Russian clinical guidelines. The rare occurrence of this syndrome, difficulties in endoscopic diagnosis and morphological verification, as well as limitations in determining the molecular genetics cause of the disease demonstrate the need for further research.