Familial adenomatous polyposis-associated desmoid disease: comprehensive review

Background

Familial adenomatous polyposis (FAP)-associated desmoid disease is a rare but important manifestation of FAP and remains a major cause of morbidity and mortality. In contrast to sporadic desmoids, which most commonly occur in the abdominal wall or extra-abdominal sites, approximately 70% of FAP-associated desmoids arise intra-abdominally, usually within the small bowel mesentery. These lesions can cause bowel and ureteric obstruction, sepsis, intestinal failure, and death. This review summarizes current evidence regarding the pathogenesis, risk factors, diagnosis, surveillance, and management of FAP-associated desmoid disease, and identifies key evidence gaps.