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Polipose adenomatosa familiar : uma revisão
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O carcinoma colo-rectal é uma das neoplasias mais frequentes na sociedade ocidental, verificando-se que alguns destes doentes possuem uma predisposição hereditária. Existem várias síndromes genéticas que aumentam a predisposição para carcinoma colo-rectal, sendo a polipose adenomatosa familiar (PAF) a mais comum. A PAF consiste numa doença autossómica dominante, caracterizada pelo desenvolvimento de centenas ou milhares de adenomas no recto e no cólon, sobretudo durante a segunda década de vida. Esta revisão tem como objectivo compilar informação acerca da polipose adenomatosa familiar, nomeadamente a sua epidemiologia, a fisiopatologia, as manifestações clínicas, o diagnóstico, a vigilância, o tratamento, a quimioprevenção e por fim o prognóstico.
Colo-rectal cancer is one of the most common malignancies in the western world. A hereditary predisposition for this type of cancer is present in some of the patients affected. There are various genetic syndromes that increase the risk of developing colo-rectal cancer and out of those, familial adenomatous polyposis (FAP), is the most frequent. FAP is an autosomal dominant disease that consists in the development of hundreds or thousands of colo-rectal adenomas, mainly during the second decade of a patient’s life. This review has the primary objective of compiling information on familial adenomatous polyposis, namely it’s epidemiology, physiopathology, clinical manifestations, diagnosis, vigilance, treatment, chemoprevention and prognosis.
Colo-rectal cancer is one of the most common malignancies in the western world. A hereditary predisposition for this type of cancer is present in some of the patients affected. There are various genetic syndromes that increase the risk of developing colo-rectal cancer and out of those, familial adenomatous polyposis (FAP), is the most frequent. FAP is an autosomal dominant disease that consists in the development of hundreds or thousands of colo-rectal adenomas, mainly during the second decade of a patient’s life. This review has the primary objective of compiling information on familial adenomatous polyposis, namely it’s epidemiology, physiopathology, clinical manifestations, diagnosis, vigilance, treatment, chemoprevention and prognosis.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2017
Palavras-chave
Carcinoma colo-rectal Polipose adenomatosa familiar Neoplasia Síndrome genética Cirurgia geral