Upper gastrointestinal polyps in familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is an autosomal dominant disease in which affected family members develop numerous colorectal adenomas with a virtually 100% chance of malignant degeneration unless the colon is prophylactically removed. After colectomy the main cause of death is upper gastrointestinal malignancy. The majority of FAP patients also develop upper gastrointestinal polyps, and especially those in the antrum and duodenum are usually neoplastic. Therefore, surveillance of FAP patients through endoscopy plus biopsy is recommended. The Spigelman classification in which the number of adenomas, the size, architecture and degree of dysplasia account for the scoring system, provides a guide for follow-up in these patients. Molecular genetic markers to assess the risk of upper gastrointestinal cancer in FAP patients are as yet not available.