Polyposis syndromes

Abstract

Although rare, polyposis syndromes are important to diagnose as they are associated with many manifestations outside the gastrointestinal tract and some carry an increased risk of malignancy. Most of these syndromes are familial, and genetic counseling is indicated in afflicted families. Over time, the names and categories of these syndromes have evolved largely due to improved genetic analysis. Thorough knowledge of the clinical presentation and radiographic manifestations is needed for optimal care. This chapter reviews the inheritance pattern, presenting features, distribution, manifestations, diagnosis and management of the familial adenomatous polyposis syndrome (FAPS), and the five types of hamartomatous syndromes.