Attenuated Familial Adenomatous Polyposis (AFAP) Presenting as Ampullary Adenocarcinoma - A Case Report | oneFAPvoice

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Attenuated Familial Adenomatous Polyposis (AFAP) Presenting as Ampullary Adenocarcinoma – A Case Report

key information

source: American Journal of Gastroenterology

year: 2008

authors: Nisheeth Verma, MD; Avinash Murthy, MD; Vinay Sood, DO; Konstantinos Linos, MD


Clinical Vignettes

Purpose: To report a rare case and emphasize the significant association of AFAP with ampullary adenocarcinoma.

Methods: Literary Review and Clinical Vignette

Results: To report the various types of occurrences in AFAP and highlight the need for further research in dealing with these presentations.

Conclusion: A 66-year-old male with a family history of colon cancer presented with a two week history of right upper quadrant pain, jaundice, and 4.5-kilogram weight loss. Initial laboratory values revealed a total bilirubin of 21.6 mg/dL with direct bilirubin 12.6 mg/dL, alkaline phosphatase 462 IU/L, aspartate transaminase 73 IU/L, alanine transaminase 85 IU/L, amylase 64 IU/L, lipase 32 IU/L, and white blood cell count of 8.8 thousand per cubic millimeter. Right upper quadrant ultrasound revealed a distended gallbladder with multiple gallstones, and a 1.1 cm stone in the common bile duct with severe intra and extra hepatic biliary dilatation. Subsequently an ERCP was performed which identified numerous gastric polyps and a large, fungating ampullary mass. Cholangiogram at the time of ERCP revealed multiple stones in the bile duct. Sphincterotomy and biliary stent placement were then performed to relieve the patient’s biliary obstruction. Biopsies were taken from both the ampullary mass and the gastric polyps. Pathology revealed the gastric polyps to be fundic gland polyps and the ampullary mass biopsy showed adenomatous mucosa with focal high grade dysplasia. Follow up CT scan of the abdomen and pelvis revealed a 2.7  2.2 cm mass in the region of the ampulla/ pancreatic head. Further work up with endoscopic ultrasound identified the mass at the level of the ampulla, which was staged T2N0Mx by endosonographic criteria. Colonoscopy was then performed which revealed numerous 1–5 mm polyps in the ascending colon, hepatic flexure, and proximal transverse colon. Biopsies of these polyps were consistent with tubular adenomas. The patient was referred to surgery for Whipple resection of the ampullary mass and subtotal colectomy for resection of the multiple colonic adenomas. Surgical pathology revealed ampullary adenocarcinoma arising in association with tubulovillous adenoma and colectomy specimen identified numerous adenomas consistent with adenomatous polyposis syndrome. We present a rare case of attenuated familial adenomatous polyposis syndrome initially presenting as obstructive jaundice secondary to ampullary adenocarcinoma.

organization: Albany Medical College

DOI: 10.1111/j.1572-0241.2008.02139_7.x

presentation number:534

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