Age and manifestation related symptoms in familial adenomatous polyposis.
BACKGROUND
To identify early symptoms of familial adenomatous polyposis with a view to improve early diagnosis and treatment. Diagnosis on the basis of genetic testing is usually limited to where there is a known family history, so FAP is more usually diagnosed on clinical grounds. Except for those identified via FAP registers, the majority of patients are symptomatic at the time of diagnosis.


METHODS
We undertook a retrospective study of 143 FAP patients treated at the Department of Surgery, University of Erlangen between 1971 and 2000. We identified patterns of symptoms, endoscopic findings and extracolonic manifestations in three age groups.


RESULTS
FAP was diagnosed clinically on the basis of symptoms in 84% (120/143) of these patients. Most presented with intestinal symptoms such as colonic bleeding (68%) and diarrhea (42%). All but one of the patients between 20 and 40 years old had rectal polyps (98.7%, 75/76), whereas in those over 40 years old the prevalence was 76% (35/46). Non-specific symptoms such as abdominal pain, fatigue and bloating were less frequent and were mainly reported by patients older than 40.


CONCLUSIONS
The commonest presenting features of FAP are alteration of bowel habit and rectal bleeding, but both are found in many other conditions. Patients with these findings need immediate endoscopy to allow prompt diagnosis and prophylactic surgery.
Croner
Roland S
RS
Department of Surgery, University of Erlangen, Maximilliansplatz 1, D-91054 Erlangen, Germany. Roland.Croner@chir.imed.uni-erlangen.de
Brueckl
Wolfgang M
WM
Reingruber
Bertram
B
Hohenberger
Werner
W
Guenther
Klaus
K
D015746:Abdominal Pain / Q000453:epidemiology; D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000453:epidemiology; D000293:Adolescent; D000328:Adult; D000368:Aged; D000740:Anemia / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003110:Colonic Neoplasms / Q000175:diagnosis / Q000453:epidemiology; D015897:Comorbidity; D003248:Constipation / Q000453:epidemiology; D003967:Diarrhea / Q000453:epidemiology; D005260:Female; D018222:Desmoid Tumors / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009780:Occult Blood; D012186:Retroperitoneal Neoplasms / Q000175:diagnosis / Q000453:epidemiology; D012189:Retrospective Studies
Dis Colon Rectum. 2002 Jan;45(1):127-34; discussion 134-6
11786778
Clin Exp Rheumatol. 2001 Jul-Aug;19(4):447-50
11491502
Acta Oncol. 2001;40(7):832-7
11859982
Am J Gastroenterol. 2002 Feb;97(2):328-33
11866269
Am J Gastroenterol. 2002 Mar;97(3):518-20
11922540
Am J Gastroenterol. 2002 Mar;97(3):729-33
11922570
Fam Cancer. 2001;1(2):75-82
14574001
Diabetes. 1976 Jul;25(7):566-73
1084308
Monatsschr Kinderheilkd. 1992 Nov;140(11):814-7
1470188
Br J Surg. 1992 Dec;79(12):1372-5
1336702
Hum Mutat. 1994;3(2):121-5
8199592
Br J Cancer. 1994 Jul;70(1):173-6
8018532
Z Gastroenterol. 1997 Jun;35(6):481-90
9231992
Dis Colon Rectum. 1999 Mar;42(3):307-10; discussion 310-2
10223748
Schweiz Med Wochenschr. 1999 May 1;129(17):665-9
10407937
Scand J Gastroenterol. 1999 Aug;34(8):808-12
10499482
Surg Today. 2000;30(8):675-82
10955728
Cancer. 1999 Dec 1;86(11 Suppl):2540-50
10630180
Infect Dis Clin North Am. 2000 Mar;14(1):41-65, viii
10738672
Mayo Clin Proc. 2000 Jun;75(6):636-7
10852426
Exp Cell Res. 2001 Mar 10;264(1):126-34
11237529
Int J Cancer. 2001 Mar 20;95(2):102-7
11241320
Hum Mol Genet. 2001 Apr;10(7):721-33
11257105
Cancer Genet Cytogenet. 2001 Jul 1;128(1):43-5
11454429
Am J Gastroenterol. 2002 Jan;97(1):180-5
11808944