Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- presença de fatores de risco
- obstrução do intestino delgado
- pigmentação mucocutânea
Outros fatores diagnósticos
- 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
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- endoscopia
- histologia do pólipo
- teste genético para STK11
Algoritmo de tratamento
Colaboradores
Autores
Licensed Genetic Counselor
Genomic Medicine Institute
Sanford R. Weiss Center for Hereditary Colorectal Neoplasia
Cleveland Clinic
Cleveland
OH
Declarações
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
Declarações
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
Declarações
CAB receives research support from Cancer Prevention Pharmaceuticals.
Revisores
Chief of Pediatric Surgery
University of North Carolina
Chapel Hill
NC
Declarações
DVA declares that he has no competing interests.
Consultant in Clinical Genetics
Department of Medical Genetics
Belfast HSC Trust
Belfast
UK
Declarações
PM declares that he has no competing interests.
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