Open AccessAppropriate Management of Attenuated Familial Adenomatous Polyposis: Report of a Case and Review of the Literature
Author(s) -
Aleksandra Sokić-Milutinović
Publication year - 2019
Publication title -
digestive diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.879
H-Index - 66
eISSN - 1421-9875
pISSN - 0257-2753
DOI - 10.1159/000497207
Subject(s) - medicine , hepatoblastoma , colonoscopy , familial adenomatous polyposis , polypectomy , gastroenterology , colorectal cancer , germline mutation , adenomatous polyposis coli , cancer , mutation , gene , biochemistry , chemistry
Hereditary polyposis syndromes in which APC gene germline mutations can lead to colorectal carcinogenesis are familial adenomatous polyposis (FAP), attenuated FAP (AFAP) and MUTYH-associated polyposis. All 3 syndromes increase the potential for the development of colorectal cancer. AFAP is diagnosed if less than 100 adenomas are detected in the colon at presentation. AFAP is inherited in an autosomal dominant manner. We present a case of a 22-year-old female with AFAP who was treated with endoscopic polypectomy and surveilled by annual colonoscopy. Guidelines for AFAP surveillance suggest annual colonoscopy with endoscopic polypectomy in asymptomatic individuals. Indications for immediate surgery include documented or suspected cancer or significant symptoms. Preferred surgical option in AFAP is colectomy and ileo-rectal anastomosis. Surveillance of the AFAP patients should include upper GI endoscopy and duodenoscopy with random biopsies of fundic gland polyps and endoscopic resection of detected adenomas. Annual thyroid ultrasound is indicated due to increased risk for thyroid cancer. In pediatric patients tested positive for germline mutation of APC gene screening for hepatoblastoma using alpha-fetoprotein and liver ultrasound should be performed.