PREVALENCE OF EXTRA-INTESTINAL LESIONS IN PATIENTS WITH FAMILIAL ADENOMATOUS POLYPOSIS

Introduction Familial adenomatous polyposis (FAP) is a hereditary genetic condition with an autosomal dominant inheritance pattern, predisposing individuals to colorectal cancer and a wide range of extra-intestinal manifestations. In addition to colorectal polyps, FAP can affect the entire gastrointestinal tract and other organs, including the stomach, duodenum, small intestine, thyroid, adrenal glands, pancreas, and pituitary gland. Benign extra-intestinal manifestations include sebaceous cysts, lipomas, osteomas, clubbed fingers, dental abnormalities, and desmoid tumors. Malignant manifestations encompass periampullary, bile duct, gastric, ileal, thyroid, adrenal, and central nervous system tumors. Early diagnosis and identification of these complications are crucial for effective disease management and improved patient quality of life.

Objective The objective of this study was to analyze the prevalence and types of extra-intestinal manifestations in FAP patients treated at a university hospital.

Methodology A retrospective analysis of medical records was conducted for patients diagnosed with FAP who were treated at the coloproctology outpatient clinic of the University Hospital between 1992 and 2024. Data collected included patient age, sex, and the presence of extra-intestinal manifestations at diagnosis or during follow-up. These manifestations were categorized as dental-bone lesions, desmoid tumors, duodenal tumors, sebaceous cysts, brain tumors, and mandibular osteomas.

Results The analysis included 72 patients with FAP, of whom 15 (20.8%) presented with at least one extra-intestinal manifestation. The most common manifestations were dental-bone lesions, found in 9 patients (12.5%), desmoid tumors in 3 patients (4.2%), and duodenal tumors in 3 patients (4.2%). Other manifestations included mandibular osteomas in 2 patients (2.7%), sebaceous cysts in 1 patient (1.38%), and brain tumors in 1 patient (1.38%).

Conclusion The results of this study indicate that extra-intestinal manifestations are relatively common in patients with FAP. Dental-bone lesions, desmoid tumors, and duodenal tumors were the most frequent manifestations. These findings underscore the need for a proactive clinical approach to identify and manage extra-intestinal complications associated with FAP, contributing to improved disease management and patient quality of life.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
25 April 2025