Evaluating causes of death in familial adenomatous polyposis

Abstract

Background: Familial adenomatous polyposis is a genetic syndrome associated with an increased risk of colorectal cancer (CRC) and different extracolonic manifestations.

Goals: The goal of this study is to evaluate the frequency of death causes.

Material and methods: Charts from 97 patients treated from 1977 to 2008 were reviewed. Retrieved data and family information allowed us to classify causes of death in those related to CCR to other malignancies or other causes.

Results: There were analyzed data from 46 men (47.4%) and 51 women (52.6%) with an average age of 35.1 years (14 to 82). At diagnosis, 57 patients (58.7%) already had CRC-associated polyposis. There were performed 93 colectomies, one internal diversion, and one partial resection. Two patients were not operated on. Results from 19 deceased patients (19.5%) were analyzed. CRC, other tumors (desmoid tumors, lymphoma, and gastric cancer), and other causes (complication of duodenal cancer surgery, complication after ileorectal anastomosis (IRA), and coronary disease) were responsible for 12 (63.1%), four (21.1%), and three (15.8%) of all deaths, respectively. Death from CRC occurred in the context of either systemic, rectal, or pouch recurrence. Desmoid disease was the second cause of death (10.5% of all causes), leading to a fatal outcome 22% of all patients who developed DT during the study period. Upper digestive carcinomas were responsible for other two death cases.

Conclusions: (1) CRC is still the most prevalent cause of death; (2) even after curative resections, CRC can cause death through rectal or pouch malignization; (3) long-term survival was also strongly related to the development of extracolonic neoplasia, especially desmoid tumors and gastroduodenal carcinoma; (4) our results raise the need for local improvement in familiar screening and help us to define follow-up strategies and patient-information standards.