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Slovenska pediatrija 2018; 25: 360-366

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Review article


M. Koder
Zdravstveni dom Celje, Celje, Slovenija

M. Homan
Klinični oddelek za gastroenterologijo, hepatologijo in nutricionistiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija


If a child has multiple gut polyps and a positive family history of cancer in the gastrointestinal tract and other organs, there is a strong suspicion that he has a hereditary polyposis syndrome (HPS). In this case, genetic testing is crucial. If the genetic testing is positive, the child must be treated appropriately and followed-up over a prolonged period. Depending on the type of mutation, close family members must also be treated and followed-up. The most common hereditary gastrointestinal polyposis syndromes are familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome and Cowden syndrome. Individuals who have a personal history of > 10 colorectal adenomas, a family history of FAP or FAP-type extracolonic manifestations should undergo FAP assessment. If genetic testing is positive, children should undergo annual colonoscopy, beginning at 10 years of age. Since all patients with FAP develop carcinoma of the large intestine, in this review article, a list of indications for prophylactic colorectal surgery and recommendations for postoperative follow-up are stated. In patients with FAP, the risk of developing adenocarcinoma of the duodenum is 100 to 330 times greater than in the general population. Therefore, upper gastrointestinal endoscopy with duodenoscopy should start at the age of 25-30 years. The investigation should be repeated every 0.5 - 4 years depending on the degree of duodenal polyposis. Follow-up of patients with Peutz-Jeghers syndrome is recommended because of the increased risk of cancers in the gastrointestinal tract and in other systems and due to complications associated with the polyps. The results of recent studies show that early screening can detect hamartomas even before they cause symptoms (e.g. invagination) when treatment is less invasive. In this review article, a summary of current recommendations for the management and follow-up of the most common hereditary polyposis syndromes is presented.

Key words: polyps, neoplastic syndromes, hereditary, intussusception.