Abstract
BackgroundTo identify early symptoms of familial adenomatous polyposis with a view to improve early diagnosis and treatment. Diagnosis on the basis of genetic testing is usually limited to where there is a known family history, so FAP is more usually diagnosed on clinical grounds. Except for those identified via FAP registers, the majority of patients are symptomatic at the time of diagnosis.MethodsWe 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.ResultsFAP 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.ConclusionThe 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.
Highlights
To identify early symptoms of familial adenomatous polyposis with a view to improve early diagnosis and treatment
Somatic mutations of the adenomatous polyposis coli gene (APC) gene occur in about 80% of sporadic colorectal cancers
Attenuated forms of FAP (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]
Summary
To identify early symptoms of familial adenomatous polyposis with a view to improve early diagnosis and treatment. Diagnosis on the basis of genetic testing is usually limited to where there is a known family history, so FAP is more usually diagnosed on clinical grounds. Except for those identified via FAP registers, the majority of patients are symptomatic at the time of diagnosis. Congenital hypertrophy of retinal pigment epithelium, upper gastrointestinal polyps, desmoid tumors, adrenal adenomas and osteomas are extracolonic FAP phenotypic features whose expression depends upon the mutated region of the APC gene [7,8,9,10,11]
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