RESUMO
Familiar adenomatous polyposis (FAP) is a hereditary disease characterized by the development of multiple adenomatous polyps in the gastrointestinal tract and colorectal cancer in practically all patients who do not receive appropriate treatment. Although the most commonly involved region in this disease is the colorectal area, it is well known that adenomas can also develop in the upper gastrointestinal tract, mainly in the periampullary area of the duodenum. Because of the possibility of malignant transformation of these polyps, adequate monitoring is required, even though the optimal follow-up schedule has not yet been defined. In the present article, we report a case of a gastric adenocarcinoma detected during the follow-up of a patient diagnosed with FAP, as well as a review of the literature on this subject. We stress the need for early detection and appropriate management of this disease. Sufficient information is available to support the use of upper gastrointestinal endoscopy with lateral vision and serial biopsies of the periampullary region in these patients. The first endoscopy in patients with FAP should be performed at the age of 20 years or at diagnosis. Subsequently, a follow-up schedule should be designed, according to the number and histological characteristics of the polyps observed.
Assuntos
Adenocarcinoma/etiologia , Polipose Adenomatosa do Colo/complicações , Neoplasias Gástricas/etiologia , Adenocarcinoma/diagnóstico , Adulto , Endoscopia Gastrointestinal , Feminino , Humanos , Neoplasias Gástricas/diagnósticoRESUMO
La poliposis adenomatosa familiar (PAF) es una enfermedad hereditaria que se caracteriza por el desarrollo de numerosos pólipos adenomatosos gastrointestinales y de cáncer colorrectal en prácticamente el 100% de los pacientes que no reciben un tratamiento adecuado. A pesar de que esta enfermedad tiene como órgano diana fundamental el área colorrectal, es bien conocida la frecuente aparición de adenomas en el tracto digestivo superior, fundamentalmente en el área duodenal periampular. La posibilidad de malignización de estos pólipos hace imperativa la planificación de pautas de seguimiento y tratamiento adecuadas, aunque todavía hoy no se conoce cuál debería ser el calendario de seguimiento. En este trabajo presentamos un caso de adenocarcinoma gástrico en el seguimiento de una paciente afectada de PAF, se revisa la literatura médica y se hace hincapié en la necesidad de detectar y planificar el tratamiento de esta enfermedad. Existe suficiente información para considerar que el seguimiento debería realizarse mediante endoscopia digestiva alta con visión lateral, incluidas biopsias seriadas del área periampular. La primera endoscopia en pacientes con PAF debería realizarse a la edad de 20 años o al inicio de la enfermedad, y programar posteriormente un calendario de seguimiento en función del número y las características histológicas de las lesiones detectadas
Familiar adenomatous polyposis (FAP) is a hereditary disease characterized by the development of multiple adenomatous polyps in the gastrointestinal tract and colorectal cancer in practically all patients who do not receive appropriate treatment. Although the most commonly involved region in this disease is the colorectal area, it is well known that adenomas can also develop in the upper gastrointestinal tract, mainly in the periampullary area of the duodenum. Because of the possibility of malignant transformation of these polyps, adequate monitoring is required, even though the optimal follow-up schedule has not yet been defined. In the present article, we report a case of a gastric adenocarcinoma detected during the follow-up of a patient diagnosed with FAP, as well as a review of the literature on this subject. We stress the need for early detection and appropriate management of this disease. Sufficient information is available to support the use of upper gastrointestinal endoscopy with lateral vision and serial biopsies of the periampullary region in these patients. The first endoscopy in patients with FAP should be performed at the age of 20 years or at diagnosis. Subsequently, a follow-up schedule should be designed, according to the number and histological characteristics of the polyps observed
Assuntos
Feminino , Adulto , Humanos , Adenocarcinoma/etiologia , Neoplasias Gástricas/etiologia , Adenocarcinoma/diagnóstico , Endoscopia Gastrointestinal , Neoplasias Gástricas/diagnósticoRESUMO
La poliposis adenomatosa familiar (PAF) es una enfermedad hereditaria que se caracteriza por el desarrollo de numerosos pólipos adenomatosos gastrointestinales y de cáncer colorrectal en prácticamente el 100% de los pacientes que no reciben un tratamiento adecuado. A pesar de que esta enfermedad tiene como órgano diana fundamental el área colorrectal, es bien conocida la frecuente aparición de adenomas en el tracto digestivo superior, fundamentalmente en el área duodenal periampular. La posibilidad de malignización de estos pólipos hace imperativa la planificación de pautas de seguimiento y tratamiento adecuadas, aunque todavía hoy no se conoce cuál debería ser el calendario de seguimiento. En este trabajo presentamos un caso de adenocarcinoma gástrico en el seguimiento de una paciente afectada de PAF, se revisa la literatura médica y se hace hincapié en la necesidad de detectar y planificar el tratamiento de esta enfermedad. Existe suficiente información para considerar que el seguimiento debería realizarse mediante endoscopia digestiva alta con visión lateral, incluidas biopsias seriadas del área periampular. La primera endoscopia en pacientes con PAF debería realizarse a la edad de 20 años o al inicio de la enfermedad, y programar posteriormente un calendario de seguimiento en función del número y las características histológicas de las lesiones detectadas
Familiar adenomatous polyposis (FAP) is a hereditary disease characterized by the development of multiple adenomatous polyps in the gastrointestinal tract and colorectal cancer in practically all patients who do not receive appropriate treatment. Although the most commonly involved region in this disease is the colorectal area, it is well known that adenomas can also develop in the upper gastrointestinal tract, mainly in the periampullary area of the duodenum. Because of the possibility of malignant transformation of these polyps, adequate monitoring is required, even though the optimal follow-up schedule has not yet been defined. In the present article, we report a case of a gastric adenocarcinoma detected during the follow-up of a patient diagnosed with FAP, as well as a review of the literature on this subject. We stress the need for early detection and appropriate management of this disease. Sufficient information is available to support the use of upper gastrointestinal endoscopy with lateral vision and serial biopsies of the periampullary region in these patients. The first endoscopy in patients with FAP should be performed at the age of 20 years or at diagnosis. Subsequently, a follow-up schedule should be designed, according to the number and histological characteristics of the polyps observed
