Clinical analysis of eight kindreds of familial adenomatous polyposis.
OBJECTIVE
To study the early diagnosis and management of familial adenomatous polyposis (FAP).


METHODS
Eight pedigrees of FAP were collected and their pedigree trees were protracted. Clinical characteristics and treatment outcomes of FAP patients in these kindreds were analysed.


RESULTS
A total of 157 members were investigated in eight kindreds and 25 patients with FAP were diagnosed. The ratio of male patients and female patients was 16:9 and the average age at onset was 38 years. Among them, six patients died of cancer with a mortality rate of 28%, and 36% (9/25) FAP patients were diagnosed as synchronous colorectal cancer on the basis of FAP. A proband was diagnosed as synchronous colorectal cancer with liver metastasis and died 11 mo later after partial colectomy and hepatic metastatic lesion biopsy. The other seven probands received total abdominal colectomy and rectal mucosectomy with ileal pouch-anal anastomosis (IPAA), and one of them was diagnosed as synchronous colon cancer on the basis of FAP and was still alive after 7.5 years follow-up. Among the other seven patients with synchronous colorectal cancer on the basis of FAP underwent total abdominal colectomy with ileorectal anastomosis (IRA), one underwent total remnant rectum resection and ileostomy for recurrent carcinoma in the retained rectum 2.5 years later after the IRA and was still alive, while the others all died of recurrence with a median survival time of 4.6 years. Through close follow-up and termly endoscopic surveillance, three FAP patients were detected before presenting symptoms at the age of 18, 20 and 23 years, respectively. Prophylactic IPAA was performed and results were satisfactory after the patients were followed-up for 6, 1, and 8 years, respectively.


CONCLUSIONS
Pedigree investigation, close follow-up and termly endoscopic surveillance are very important for early detection of FAP. Prophylactic IPAA can give satisfactory results to FAP patients.
He
Yu-Long
YL
Department of Gastrointestinopancreatic Surgery, the First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080, Guangdong Province, China. ylh@medmail.com.cn
Zhang
Chang-Hua
CH
Huang
Mei-Jin
MJ
Cai
Shi-Rong
SR
Zhan
Wen-Hua
WH
Wang
Jian-Ping
JP
Wang
Ji-Fu
JF
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality*; D000328:Adult; D042241:Early Diagnosis; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D010375:Pedigree; D012042:Registries; D012189:Retrospective Studies