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BMC Cancer  2005 

Age and manifestation related symptoms in familial adenomatous polyposis

DOI: 10.1186/1471-2407-5-24

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Abstract:

We undertook a retrospective study of 143 FAP patients treated at the Department of Surgery, University of Erlangen between 1971 and 2000. We identified patterns of symptoms, endoscopic findings and extracolonic manifestations in three age groups.FAP was diagnosed clinically on the basis of symptoms in 84% (120/143) of these patients. Most presented with intestinal symptoms such as colonic bleeding (68%) and diarrhea (42%). All but one of the patients between 20 and 40 years old had rectal polyps (98.7%, 75/76), whereas in those over 40 years old the prevalence was 76% (35/46). Non-specific symptoms such as abdominal pain, fatigue and bloating were less frequent and were mainly reported by patients older than 40.The commonest presenting features of FAP are alteration of bowel habit and rectal bleeding, but both are found in many other conditions. Patients with these findings need immediate endoscopy to allow prompt diagnosis and prophylactic surgery.Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease and is caused by germline mutations in the adenomatous polyposis coli gene (APC) in chromosome 5q21 [1]. Somatic mutations of the APC gene occur in about 80% of sporadic colorectal cancers. APC encodes for a multimodal protein that plays an important role in the wnt-signalling pathway and in intercellular adhesion [2,3]. The APC germline mutation has a penetrance which is close to 100% [4]. Untreated, the disease usually leads to the appearance of hundreds of adenomatous polyps in the colorectum between puberty and age 20 and to cancer by the early forties at the latest which is the most frequent reason for death in patients with FAP [5]. Attenuated forms of FAP (AFAP) are variations in phenotype. AFAP with less than 100 adenomatous polyps is diagnosed at a mean age of 44 years, and cancer is diagnosed at a mean age of 56 years [6]. Congenital hypertrophy of retinal pigment epithelium, upper gastrointestinal polyps, desmoid tumors, adrenal

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