RT Journal Article
SR Electronic
T1 Attenuated familial adenomatous polyposis presenting as ampullary adenocarcinoma
JF Gut
JO Gut
FD BMJ Publishing Group Ltd and British Society of Gastroenterology
SP 903
OP 904
DO 10.1136/gut.52.6.903
VO 52
IS 6
A1 J D Trimbath
A1 C Griffin
A1 K Romans
A1 F M Giardiello
YR 2003
UL http://gut.bmj.com/content/52/6/903.abstract
AB The risk of periampullary cancer in patients with classic familial adenomatous polyposis (FAP) is significantly increased compared with the general population. However, the incidence of this extracolonic manifestation in attenuated FAP (AFAP) is unknown. We report the case of a 38 year old woman with no known family history of polyposis or colorectal cancer, who presented with ampullary adenocarcinoma. Diagnosis of AFAP was made only after evaluation of the patient’s extended family history and genetic testing. This case report suggests that AFAP should be included in the differential diagnosis of patients with ampullary/duodenal tumours.