Inherited Gastrointestinal-Polyposis Syndromes

Isolated polyps in the gastrointestinal tract, particularly in the colon, are relatively common, whereas only occasionally do patients have large numbers of polyps. Many of these patients have one of the genetic gastrointestinal-polyposis syndromes, so that there may be a risk that offspring will inherit the disorder. In evaluating persons with multiple gastrointestinal polyposis, the most important information for purposes of differential diagnosis consists of the number and distribution of the polyps within the gastrointestinal tract, the pathological features of the polyps and the nature and distribution of any extraintestinal manifestations (Table 1). All these syndromes are inherited as Mendelian.