Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update

Abstract

Familial adenomatous polyposis is characterized by the development of multiple (>100) colorectal adenomas throughout the colorectum. This disorder can be caused by a germline mutation in the adenomatous polyposis coli gene and can be diagnosed either clinically or genetically. After diagnosis with the condition, patients should undergo prophylactic proctocolectomy with a neoreservoir, usually an ileoanal pouch, at an appropriate time. Individuals with a family history of this disease who have not been diagnosed should be advised to attend genetic counseling and to enroll in appropriate clinical and genetic surveillance programs. Recent progress in endoscopic technology, including high-resolution endoscopy, capsule endoscopy, and double-balloon endoscopy, has made possible more detailed and wide-ranging investigation of the gastrointestinal tract. Although there has been limited evidence, further studies on these new endoscopic technologies might alter the surveillance strategies for familial adenomatous polyposis.

Fig. 1

Colonoscopic findings of familial adenomatous polyposis.

Fig. 2

Gastric fundic gland polyps in a familial adenomatous polyposis patient.

Fig. 3

Endoscopic view of the duodenum in a familial adenomatous polyposis patient showing confluent adenomatous plaques.