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Intestinal polyposis syndromes

Elitsa Atanasova, Sesil Megdat, Ivanina Koynova, Pavel Todorov, Vyara Draganova


Introduction: Intestinal polyposis syndromes are relatively rare genetic diseases characterised by the development of hundreds to thousands of adenomatous polyps along the large bowel. They can be divided, based on histology, into the broad categories of familial adenomatous polyposis - FAP and hamartomatous polyposis syndromes. FAP is the most common among them. It`s rate varies from 1 in 6,850 cases to 1 in 31,250 cases. The hamartomatous polyposis syndromes include juvenile polyposis syndrome (JPS); Cowden and Bannayan- Riley- Ruvalcaba syndromes and Peutz-Jeghers syndrome (PJS).

Materials and methods: We report two cases with a history of intestinal polyposis syndrome: A 22-year-old woman was admitted in Second Surgery Department after several days of constant abdominal pain, bloating of the abdomen and lack of gas and stools and a 34-year-old man with suspected FAP.

Results: Both patients have a family history of adenomatous polyposis. Ultrasonography of the female patient revealed invagination of the small bowel and a region with pathological peristalsis. The patient underwent endoscopy during which a polyp was found in terminal ileum. During upper endoscopy several polyps in the distal part of the stomach, in the corpus and in the duodenum were found. She underwent medial laparotomy and resection of the small bowel. The man underwent upper and lower endoscopy which revealed a lot of polyps in the distal part of the duodenum, adenoma of the ampulla of Vater and more than 100 polyps among the large bowel with different sizes. He went through laparotomy and subtotal colectomy. Histology results came positive for intestinal polyposis syndrome: in the first case it`s considered as Peutz-Jeghers syndrome. The second case results came out as FAP.

Conclusion: If left untreated Familial adenomatous polyposis (FAP) will lead to the development of colon cancer. That`s why regular endoscopic screening and removal of the polyps or prophylactic colectomy after their manifestation is essential.


familial adenomatous polyposis; Peutz-Jeghers syndrome; ileoscopy; fibrogastroduodenoscopy; fibrocolonoscopy



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