Melena Revealing an Attenuated Familial Adenomatous Polyposis in an Elderly Patient: A Case Report

We describe a patient who was diagnosed with multiple tubulleuvillous adenomas focus of high-grade tubular dysplasia all over the colonic mucosa, discovered during colonoscopy performed an episode melena. Genetic testing has identified germline truncating mutation at codon (5q22.2) adenomatous polyposis (APC) gene. This is localized in alternately spliced region exon 12, which associated attenuated familial (PAFA) phenotype. Our had no extracolic manifestations PAFA and none her relatives history rectocolic polyposis. Treatment consisted colectomy ileorectal anastomosis. ill-defined condition unknown prevalence penetrance, requiring individual treatment lifelong monitoring. It essential to identify these patients view setting up appropriate endoscopic surveillance early age family members carrying this mutation, due marked intra-family phenotypic variance.