Approach to the Patient With Multiple Colorectal Polyps?
Approach to the Patient With Multiple Colorectal Polyps?
The patient is a 53-year-old man with multiple (10-20) colorectal polyps (pedunculated, sessile, tubular, and villous adenoma, also with severe dysplasia; maximum diameter = 3 cm), predominantly right-sided. Two first-degree relatives had colorectal cancer (70 years of age). Six polyps have been resected in 3 sessions. Should this patient be tested for AFAP (attenuated familial adenomatous polyposis)? Is repeat colonoscopic polypectomy sufficient or is surgical resection (colectomy) the treatment of choice?
The question posed is intriguing. A definitive answer to the question about AFAP will require more clinical information, although from the data provided, the diagnosis cannot be absolutely ruled in or out. There is also the potential for the kindred in question to have hereditary nonpolyposis colorectal cancer (HNPCC), given the right-sided predominance of the lesions and the report that some are sessile. It is unclear to me whether all of the 20 polyps are adenomas, as only 6 are reported to be resected. There is also the potential for an "age march" (earlier onset of phenotypic expression in HNPCC). There is no question that the risk of colon cancer in the patient presented is increased. The occurrence of 2 colon cancers in first-degree relatives clearly increases the risk, but we need to know whether the relatives are also first-degree to each other and their generation to the patient. The age of the patient at the time of the initial colonoscopy would also be helpful.
Additional information may be gathered from an esophagogastroduodenoscopy, and failing that, an upper gastrointestinal exam. If there is histologic evidence of duodenal and/or ampullary adenomas, then there is a high probability of familial adenomatous polyposis (FAP). If there are fundic polyps, one needs to also strongly consider the diagnosis of FAP.
Genetic counseling and a formal risk assessment are in order for this patient, because the usual testing for FAP may not reveal AFAP due to the location of the mutation. After a thorough discussion with the patient and an understanding of the implications, genetic testing appears to be indicated to aid in establishing the exact diagnosis because issues in surveillance and the implications for other family members will need to be assessed. The issue of surgical resection is complex -- if the genetic testing is informative, the answer is easy. However, if the results of genetic testing are negative, or if the patient refuses testing, then an extended resection appears to be in order. In any case, close surveillance of any residual mucosa will be needed. I do not believe that only colonoscopy with polypectomy is in this patient's best interest given the information provided, nor would a simple right-hemicolectomy be optimal.
The patient is a 53-year-old man with multiple (10-20) colorectal polyps (pedunculated, sessile, tubular, and villous adenoma, also with severe dysplasia; maximum diameter = 3 cm), predominantly right-sided. Two first-degree relatives had colorectal cancer (70 years of age). Six polyps have been resected in 3 sessions. Should this patient be tested for AFAP (attenuated familial adenomatous polyposis)? Is repeat colonoscopic polypectomy sufficient or is surgical resection (colectomy) the treatment of choice?
The question posed is intriguing. A definitive answer to the question about AFAP will require more clinical information, although from the data provided, the diagnosis cannot be absolutely ruled in or out. There is also the potential for the kindred in question to have hereditary nonpolyposis colorectal cancer (HNPCC), given the right-sided predominance of the lesions and the report that some are sessile. It is unclear to me whether all of the 20 polyps are adenomas, as only 6 are reported to be resected. There is also the potential for an "age march" (earlier onset of phenotypic expression in HNPCC). There is no question that the risk of colon cancer in the patient presented is increased. The occurrence of 2 colon cancers in first-degree relatives clearly increases the risk, but we need to know whether the relatives are also first-degree to each other and their generation to the patient. The age of the patient at the time of the initial colonoscopy would also be helpful.
Additional information may be gathered from an esophagogastroduodenoscopy, and failing that, an upper gastrointestinal exam. If there is histologic evidence of duodenal and/or ampullary adenomas, then there is a high probability of familial adenomatous polyposis (FAP). If there are fundic polyps, one needs to also strongly consider the diagnosis of FAP.
Genetic counseling and a formal risk assessment are in order for this patient, because the usual testing for FAP may not reveal AFAP due to the location of the mutation. After a thorough discussion with the patient and an understanding of the implications, genetic testing appears to be indicated to aid in establishing the exact diagnosis because issues in surveillance and the implications for other family members will need to be assessed. The issue of surgical resection is complex -- if the genetic testing is informative, the answer is easy. However, if the results of genetic testing are negative, or if the patient refuses testing, then an extended resection appears to be in order. In any case, close surveillance of any residual mucosa will be needed. I do not believe that only colonoscopy with polypectomy is in this patient's best interest given the information provided, nor would a simple right-hemicolectomy be optimal.