Última revisão: 28 Out 2020
Última atualização: 31 Jan 2019

Resumo

Definição

História e exame físico

Principais fatores de diagnóstico

  • presença de fatores de risco
  • obstrução do intestino delgado
  • pigmentação mucocutânea

Outros fatores de diagnóstico

  • desconforto e distensão abdominal
  • dor abdominal
  • hemorragia digestiva
  • prolapso de pólipo perianal
  • testículo aumentado (sem massas)
  • ginecomastia bilateral
  • fadiga
  • palidez
  • sinais de insuficiência cardíaca

Fatores de risco

  • história familiar positiva
  • mutação das linhas germinativas no gene STK11

Exames diagnósticos

1° exames a serem solicitados

  • endoscopia
  • histologia do pólipo
  • teste genético para STK11
Mais 1° exames a serem solicitados

Algoritmo de tratamento

Colaboradores

Licensed Genetic Counselor

Genomic Medicine Institute

Sanford R. Weiss Center for Hereditary Colorectal Neoplasia

Cleveland Clinic

Cleveland

OH

Divulgações

BH declares that she has received payment from the following but has no contractual agreement to disseminate product information for them: Speakers Bureau Myriad Genetics Lab, and the advisory board for Invitae. BH is also President of the Collaborative Group of the Americas on Inherited Colorectal Cancer, for which she does not receive payment.

Victor W. Fazio Chair

Department of Colorectal Surgery

Digestive Disease Institute

Cleveland Clinic

Director

Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia

Cleveland Clinic

Cleveland

OH

Divulgações

JC declares that he has no competing interests.

Director

Center for Colon Polyp and Cancer Prevention

Department of Gastroenterology and Hepatology

Associate Director

Sanford R. Weiss Center for Hereditary Colorectal Neoplasia

Section of Polyposis

Digestive Disease Institute

Cleveland Clinic

Cleveland

OH

Divulgações

CAB receives research support from Cancer Prevention Pharmaceuticals.

Colegas revisoresMOSTRAR TODOS

Chief of Pediatric Surgery

University of North Carolina

Chapel Hill

NC

Divulgações

DVA declares that he has no competing interests.

Consultant in Clinical Genetics

Department of Medical Genetics

Belfast HSC Trust

Belfast

UK

Divulgações

PM declares that he has no competing interests.

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