[Extracolonic manifestations of familial adenomatous polyposis: incidence and impact on the disease outcome].
BACKGROUND
Familial adenomatous polyposis is a hereditary disease with autossomic and dominant features, frequently associated to many extracolonic manifestations.


OBJECTIVE
To report extracolonic manifestations incidence and to analyze its impact on the disease's outcome.


METHODS
Revision of patient charts treated from 1977 to 2001, relating associated extracolonic manifestations and its complications.


RESULTS
Among 59 familial adenomatous polyposis patients, 23 (38,9%) presented some extracolonic manifestations at diagnosis or during follow-up. There were registered 37 different extracolonic manifestations (1.6 per patient). The most common manifestations were osteomas and congenital hypertrophy of the retinal pigment epithelium, diagnosed in 25% and 20% of the investigated patients, respectively. Other extracolonic manifestations were represented by upper digestive adenomas, epidermoid cysts, desmoid tumor (seven each), gastric cancer (three) and tireoid cancer (two). Desmoid-associated complications were reported in six patients, being intestinal obstruction in four and hidronephrosis in two; two deaths (28,5%) were registered.


CONCLUSIONS
Extracolonic manifestations incidence is high (40%) and may affect disease's outcome and patient's quality of life. For these reasons, the research, prevention and adequate treatment of extracolonic manifestations turn into vital importance in familial adenomatous polyposis patients.
Campos
Fábio Guilherme
FG
Departamento de Gastroenterologia da Faculdade de Medicina da Universidade de São paulo, Brasil. fgmcampos@terra.com.br
Habr-Gama
Angelita
A
Kiss
Desidério Roberto
DR
Atuí
Fábio César
FC
Katayama
Fábio
F
Gama-Rodrigues
Joaquim
J
D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000601:surgery; D000293:Adolescent; D000328:Adult; D000368:Aged; D001938:Brazil; D002648:Child; D005260:Female; D005736:Gardner Syndrome / Q000150:complications / Q000601:surgery; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies