Care of Patients and Their Families With Familial Adenomatous Polyposis

摘要: Familial adenomatous polyposis (FAP) is a dominantly inherited disorder that typically characterized by the appearance of multiple colorectal adenomas usually teenage years, with risk early cancer approaching 100%. Genetic testing can help determine which family members have and require surveillance endoscopy. Astute physicians may detect unsuspected FAP in patients extraintestinal manifestations such as hard or soft cutaneous tumors. Colectomy will prevent but often necessary before patient 20 years old. Postoperative lifelong indicated to screen for associated duodenal, thyroid, rectal ileal neoplasms. Attenuated variants are less typical be confused other types familial neoplasia. Chemoprevention, regression, treatment strategies being developed improve management extracolonic neoplasms desmoid A better understanding natural history these FAP-associated phenomena facilitate rational selection interventions. Management guidelines were recently at Mayo Clinic Rochester provide uniform care discussed.