UPPER GASTROINTESTINAL MANIFESTATIONS IN FAMILIES WITH HEREDITARY FLAT ADENOMA SYNDROME

Background. The hereditary flat adenoma syndrome (HFAS) is characteriz ed by an autosomal dominantly inherited predisposition to multiple col onic adenomas (usually less than 100) with proximal predominance and f lat as opposed to polypoid growth. Patients with the syndrome experien ce colorectal cancers in excess, and the lesions are distributed rando mly in the colon. The polyps occur at a later age (median, 55 years) c ompared with age at onset of polyps in patients with familial adenomat ous polyposis (FAP) and patients with the Lynch syndromes. FAP and HFA S are linked to the same locus on chromosome 5q21-q22. Methods. Upper endoscopic examination was performed on 22 relatives from four familie s with HFAS. Results. Fifteen patients from three of these families ha d multiple fundic gland polyps; four had duodenal or gastric adenomas. Periampullary carcinoma was present in two members from separate fami lies. Conclusions. The authors conclude that the upper gastrointestina l tract pathologic characteristics of HFAS are similar to those descri bed in FAP. Thus, those at risk for HFAS require upper endoscopic scre ening in addition to meticulous attention to the colon.