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Polipose adenomatosa familiar
ORPHA:733CID-10 · D12.6CID-11 · 2B90.YDOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
AudiçãoInício adultaHerança AD/AR
Também conhecida comoFAPSíndrome GardnerPAFPolipose adenomatosa familiar autossómica dominanteFAPPAFAPC
Sinônimos clínicos: FAP · Síndrome Gardner · PAF · +2

A polipose adenomatosa familiar (PAF) é caracterizada pelo desenvolvimento de centenas a milhares de adenomas no reto e cólon durante a segunda década de vida.

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A polipose adenomatosa familiar (FAP) é um distúrbio hereditário que se caracteriza por um risco muito aumentado de câncer do intestino grosso (cólon) e do reto (coletivamente conhecido como câncer colorretal). Pessoas com FAP têm múltiplos crescimentos pré-cancerosos (benignos) (pólipos) no cólon, e um ou mais desses pólipos provavelmente evoluirão para câncer colorretal. Existem duas formas de FAP: o tipo clássico e o tipo atenuado.

O tipo clássico de FAP é o tipo mais grave. Pessoas com FAP clássico desenvolvem pólipos no cólon já na infância. Até os 35 anos de idade, 95 por cento das pessoas com FAP clássico terão pólipos no cólon. Uma vez que os pólipos aparecem em pessoas com FAP clássico, o número de pólipos aumenta rapidamente. Pessoas com FAP clássico podem ter centenas a milhares de pólipos no cólon. A menos que o cólon seja removido, um ou mais desses pólipos se tornarão cancerosos (malignos). Indivíduos com FAP clássico tipicamente desenvolvem câncer colorretal por volta dos 40 anos de idade, e pelo menos 90 por cento das pessoas afetadas desenvolverão câncer colorretal até os 50 anos se não realizarem um procedimento que remova o cólon previamente (colectomia preventiva).

O tipo atenuado de FAP é a forma menos grave. Pessoas com FAP atenuado tendem a ter menos pólipos (uma média de 30) que se desenvolvem mais tarde na vida (início a meia-idade adulta) do que aquelas com FAP clássico. Pessoas com FAP atenuado têm um risco vitalício de 70 por cento de câncer colorretal, com o câncer tipicamente desenvolvendo por volta dos 55 anos de idade. Pessoas com FAP atenuado podem ou não ser aconselhadas a fazer uma colectomia preventiva.

Menos comumente, pessoas com FAP podem desenvolver outros tipos de câncer. Indivíduos afetados têm risco aumentado de desenvolver câncer de estômago, pâncreas, de uma glândula na parte inferior do pescoço (glândula tireóide), do fígado (especificamente, uma forma conhecida como hepatoblastoma), do cérebro (especificamente, uma forma conhecida como meduloblastoma) ou de uma seção do intestino delgado (duodeno).

Pessoas com FAP também podem ter crescimentos benignos em seus ossos (osteomas), em sua pele (cistos) ou nas pequenas glândulas localizadas acima dos rins chamadas glândulas adrenais (massas adrenais). Outros crescimentos benignos chamados tumores desmoides desenvolvem-se em 10 a 30 por cento das pessoas com FAP. Esses tumores fibrosos geralmente ocorrem no abdômen ou na parede abdominal. Tumores desmoides tendem a recidivar após serem removidos cirurgicamente.

Pessoas com FAP podem também apresentar anomalias dentárias, que podem incluir dentes que não rompem a gengiva, um ou mais dentes ausentes, dentes extras (supernumerários) e cistos dentários.

Indivíduos com FAP frequentemente apresentam um problema ocular chamado hipertrofia congênita do epitélio pigmentado da retina (CHRPE). CHRPE se caracteriza por lesões planas no tecido sensível à luz que reveste a parte posterior do olho (retina) e que podem ser vistas durante um exame ocular. CHRPE não causa nenhum problema de visão e ocorre em até 80 por cento das pessoas com FAP.

Fonte: MedlinePlus Genetics (NLM/NIH), traduzido
📋
Informacoes curadas por IA — podem conter imprecisoes

A polipose adenomatosa familiar (PAF) é caracterizada pelo desenvolvimento de centenas a milhares de adenomas no reto e cólon durante a segunda década de vida.

Pesquisas ativas
23 ensaios
91 total registrados no ClinicalTrials.gov
Publicações científicas
5.712 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D12.6
Você se identifica com essa condição?
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Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

😀
Face
10 sintomas
🫃
Digestivo
10 sintomas
📏
Crescimento
6 sintomas
🧠
Neurológico
5 sintomas
🦴
Ossos e articulações
5 sintomas
🫘
Rins
3 sintomas

+ 22 sintomas em outras categorias

Características mais comuns

90%prev.
Polipose colônica adenomatosa
Muito frequente (99-80%)
90%prev.
Neoplasia do trato gastrointestinal
Muito frequente (99-80%)
90%prev.
Tumores desmoides
Muito frequente (99-80%)
90%prev.
Câncer de cólon
Muito frequente (99-80%)
90%prev.
Hipertrofia congênita do epitélio pigmentar da retina
Muito frequente (99-80%)
90%prev.
Polipose colorretal
Muito frequente (99-80%)
72sintomas
Muito frequente (6)
Frequente (7)
Ocasional (10)
Muito raro (22)
Sem dados (27)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 72 características clínicas mais associadas, ordenadas por frequência.

Polipose colônica adenomatosaAdenomatous colonic polyposis
Muito frequente (99-80%)90%
Neoplasia do trato gastrointestinalNeoplasm of the gastrointestinal tract
Muito frequente (99-80%)90%
Tumores desmoidesDesmoid tumors
Muito frequente (99-80%)90%
Câncer de cólonColon cancer
Muito frequente (99-80%)90%
Hipertrofia congênita do epitélio pigmentar da retinaCongenital hypertrophy of retinal pigment epithelium
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico5.712PubMed
Últimos 10 anos200publicações
Pico2025148 papers
Linha do tempo
2026Hoje · 2026🧪 2001Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

APCAdenomatous polyposis coli proteinDisease-causing germline mutation(s) inAltamente restrito
VIAS BIOLÓGICAS (3)
Apoptotic cleavage of cellular proteinsDegradation of beta-catenin by the destruction complexSignaling by GSK3beta mutants
MECANISMO DE DOENÇA

Familial adenomatous polyposis 1

An autosomal dominant cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years.

OUTRAS DOENÇAS (10)
familial adenomatous polyposis 1gastric cancerhepatocellular carcinomagastric adenocarcinoma and proximal polyposis of the stomach
HGNC:583UniProt:P25054

Variantes genéticas (ClinVar)

13.056 variantes patogênicas registradas no ClinVar.

🧬 APC: NM_000038.6(APC):c.5026_5034delinsGGAGGA (p.Arg1676del) ()
🧬 APC: NM_000038.6(APC):c.5629del (p.Glu1877fs) ()
🧬 APC: NM_000038.6(APC):c.6648C>G (p.Pro2216=) ()
🧬 APC: NC_000005.10:g.112707328A>G ()
🧬 APC: NM_000038.6(APC):c.5921A>G (p.Asp1974Gly) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 15.889 variantes classificadas pelo ClinVar.

7150
5561
3178
Patogênica (45.0%)
VUS (35.0%)
Benigna (20.0%)
VARIANTES MAIS SIGNIFICATIVAS
APC: NM_000038.6(APC):c.646-1806T>G [Likely pathogenic]
MUTYH: NM_001048174.2(MUTYH):c.1434+286_1434+287del [Pathogenic]
MSH3: NM_002439.5(MSH3):c.1708_1709insA (p.Ser570fs) [Pathogenic]
MUTYH: NM_001048174.2(MUTYH):c.349del (p.Thr116_Val117insTer) [Pathogenic]
MSH3: NM_002439.5(MSH3):c.802del (p.Arg268fs) [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
✓Aprovado4
3Fase 39
2Fase 219
1Fase 18
·Pré-clínico51
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 91 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Polipose adenomatosa familiar

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Onde estão os ensaios

Com ensaio aberto em 14 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

17 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT07066046 · Artificial Intelligence-assisted Colonoscopy in the Detectio…Recrutando
NA🇧🇷 Brasil
NCT07726771 · Evaluation of the Ileo-anal Pouch in FAP (ENDOPOL)Recrutando
NA🇬🇧 Reino Unido
NCT06641310 · Trial of Exercise Therapy in Familial Adenomatous Polyp (FAP…Recrutando
NA🇺🇸 Estados Unidos
NCT06557733 · An Investigational Drug (TPST-1495) in Patients With Familia…Recrutando
PHASE2🇺🇸 Estados Unidos
NCT07463599 · Safety and Efficacy of Tegavivint in Patients With Metastati…Recrutando
PHASE1, PHASE2🇺🇸 Estados Unidos
NCT05630794 · Testing for Safety and Colorectal Cancer Preventive Effects …Recrutando
PHASE1🇺🇸 Estados Unidos
NCT06950385 · Phase 3 Trial of eRapa in Patients With Familial Adenomatous…Recrutando
PHASE3🇩🇰 Dinamarca · 🇩🇪 Alemanha · 🇮🇹 Itália +4
NCT06538402 · Ten Versus Fifteen Centimeter Pouch in IPAA SurgeryRecrutando
NA🇩🇰 Dinamarca
NCT06614738 · Microbial and Environmental Factors Associated With Polyps D…Recrutando
🇫🇷 França
NCT05552755 · Evaluate REC-4881 in Participants With Familial Adenomatous …Recrutando
PHASE1, PHASE2🇺🇸 Estados Unidos
NCT05919264 · FOG-001 in Locally Advanced or Metastatic Solid TumorsRecrutando
PHASE1, PHASE2🇦🇺 Austrália · 🇺🇸 Estados Unidos
NCT04678011 · A Personalized Surveillance and Intervention Protocol for Pa…Recrutando
🇳🇱 Países Baixos · 🇺🇸 Estados Unidos
NCT04677998 · A Personalized Surveillance and Intervention Protocol for Du…Recrutando
🇳🇱 Países Baixos · 🇺🇸 Estados Unidos
NCT07199127 · Duodenal Polyposis Classification in FAPRecrutando
🇮🇹 Itália
NCT03471403 · Cold Snare Polypectomy for Duodenal Adenomas in Familial Ade…Recrutando
🇦🇺 Austrália
NCT06578637 · Investigation of β-hydroxybutyrate Supplementation as Chemop…Por convite
NA🇺🇸 Estados Unidos
NCT06649825 · Efficacy of Vitamin B1 in Familial Adenomatous Polyposis Pat…Por convite
NA🇨🇳 China

Outros ensaios clínicos

91 ensaios clínicos encontrados, 23 ativos.

Distribuição por fase
NCT07729371 · A Safety Study of ST316 in Participants With Familial Adenom…Em breve
PHASE1
NCT06308445 · Safety Study for the Use of Rapamycin in Children With Famil…Em breve
PHASE2🇫🇷 França
NCT06881303 · Impact of Prior Identification and Education of Patients Req…Em breve
NA🇫🇷 França
NCT04531930 · Colorectal Adenoma Canceration in FAPEm breve
🇨🇳 China
NCT07461246 · Familial Adenomatous Poliposys Italian Network (Rete Italian…Ativo
🇮🇹 Itália
NCT04230499 · Trial of ERapa to Prevent Progression in Familial Adenomatou…Ativo
PHASE2🇺🇸 Estados Unidos
NCT05657145 · Visualization of the Papilla Through Use of the NuView Devic…Concluído
🇺🇸 Estados Unidos
NCT05687318 · A Clinical Trial of the Effectiveness and Safety of Software…Concluído
NA🇨🇳 China
NCT05402891 · The CHAMP-study: The CHemopreventive Effect of Lithium in Fa…Concluído
PHASE2🇳🇱 Países Baixos
NCT05014360 · A Study of JNJ-64251330 in Participants With Familial Adenom…Concluído
PHASE1🇫🇷 França · 🇩🇪 Alemanha · 🇳🇱 Países Baixos +4
NCT03847636 · CryoBalloon Ablation for Treatment of Duodenal AdenomasConcluído
NA🇺🇸 Estados Unidos
NCT03649971 · A Study of Guselkumab in Participants With Familial Adenomat…Concluído
PHASE1🇫🇷 França · 🇩🇪 Alemanha · 🇮🇱 Israel +6
NCT07278687 · LATA-IBD TRIAL a Controlled Feasibility Study for the Introd…Concluído
🇸🇪 Suécia
NCT05171426 · Incidental Cancer in Familial Adenomatous PolyposisConcluído
Turkey (Türkiye)
NCT03346980 · Endoscopic Evaluation of Duodenal Polyposis in Patients With…Concluído
🇩🇰 Dinamarca
NCT02961374 · Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in…Concluído
PHASE2Puerto Rico · 🇺🇸 Estados Unidos
NCT03095703 · Sirolimus and Familial Adenomatous Polyposis (FAP)Concluído
PHASE2🇳🇱 Países Baixos
NCT04552405 · Preventive Anti-inflammatory Diet to Reduce Gastro-intestina…Concluído
NA🇮🇹 Itália
NCT02198092 · Preliminary Evaluation of Septin9 in Patients With Hereditar…Concluído
🇺🇸 Estados Unidos
NCT02113202 · Molecular Fluorescence Endoscopy in Patients With Familial A…Concluído
PHASE1🇳🇱 Países Baixos
NCT01483144 · Trial of Eflornithine Plus Sulindac in Patients With Familia…Concluído
PHASE3🇧🇪 Bélgica · 🇨🇦 Canadá · 🇩🇪 Alemanha +4
NCT01725490 · The Chemopreventive Effect of Metformin in Patients With Fam…Concluído
PHASE2South Korea
NCT02162173 · Dual Focus NBI and pCLE in FAP Related Duodenal AdenomaConcluído
NAThailand
NCT01604564 · Registry With Information About Colitis Ulcerosa and Familia…Concluído
🇧🇪 Bélgica
NCT00641147 · Curcumin in Treating Patients With Familial Adenomatous Poly…Concluído
PHASE2Puerto Rico · 🇺🇸 Estados Unidos
NCT01656746 · Single Incision Laparoscopic Surgery in Treating Patients Wi…Concluído
NA🇺🇸 Estados Unidos
NCT01187901 · A Clinical Trial of COX and EGFR Inhibition in Familial Poly…Concluído
PHASE2🇺🇸 Estados Unidos
NCT00808743 · Prevention of Progression of Duodenal Adenomas in Patients W…Concluído
PHASE2, PHASE3🇳🇱 Países Baixos
NCT02747862 · Non-Surgical Management of Attenuated and Deleterious (Class…Concluído
🇺🇸 Estados Unidos
NCT00927485 · Use of Curcumin for Treatment of Intestinal Adenomas in Fami…Concluído
NAPuerto Rico
NCT00525655 · Multimedia Intervention in Patients With Familial Adenomatou…Concluído
NA🇺🇸 Estados Unidos
NCT00675636 · Collecting Information From Patients and Family Members With…Concluído
🇺🇸 Estados Unidos
NCT00510692 · Chemoprevention Trial in Familial Adenomatous Polyposis (FAP…Concluído
PHASE2, PHASE3🇬🇧 Reino Unido
NCT00770991 · Lyophilized Black Raspberries in Adults With Familial Adenom…Concluído
PHASE1🇺🇸 Estados Unidos
NCT03494543 · Endoscopic Papillectomy for Ampullary AdenomasConcluído
NCT00503035 · Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apop…Concluído
PHASE2🇺🇸 Estados Unidos
NCT00685568 · Celecoxib in Preventing Colorectal Cancer in Young Patients …Concluído
PHASE1🇺🇸 Estados Unidos
NCT00033371 · Celecoxib With or Without Eflornithine in Preventing Colorec…Concluído
PHASE2🇺🇸 Estados Unidos
NCT01173250 · Is Diverting Ileostomy Necessary in Stapled Ileoanal Pouch?Concluído
NA
NCT02656134 · Small Bowel Endoscopic Evaluation in Familial Adenomatous Po…UNKNOWN
🇧🇷 Brasil
NCT05954949 · Detection of Ileoanal Pouch/Reservoir AdenomasUNKNOWN
NCT06545526 · Chemopreventive Effect of Combination of Celecoxib and Metfo…UNKNOWN
PHASE3South Korea
NCT06435533 · Cold Atmospheric Plasma for the Endoscopic Treatment of Duod…UNKNOWN
NA🇩🇪 Alemanha
NCT06163365 · Inherited Cancer Early Diagnosis (ICED) StudyUNKNOWN
🇬🇧 Reino Unido
NCT04865601 · DNA Adductomics for Colorectal Cancer InvestigationUNKNOWN
🇩🇰 Dinamarca
NCT04454151 · Azithromycin Treatment for Readthrough of APC Gene Stop Codo…UNKNOWN
PHASE4🇮🇱 Israel
NCT04709445 · Perfusion Rate Assessment by Near-infrared Fluorescence in G…UNKNOWN
NA🇩🇪 Alemanha
NCT04296851 · Niclosamide for Familial Adenomatous PolyposisUNKNOWN
PHASE2South Korea
NCT04695964 · Objective Perfusion Rate Assessment by Near-infrared Fluores…UNKNOWN
NA🇩🇪 Alemanha
NCT04695184 · Subjective Near-infrared Fluorescence Guidance in Perfusion …UNKNOWN
NA🇩🇪 Alemanha
NCT03806426 · Effect of EPA-FFA on Polypectomy in Familial Adenomatous Pol…UNKNOWN
PHASE3🇮🇹 Itália
NCT03847532 · MUTYH-associated PolyposisUNKNOWN
NARussia
NCT03061591 · Turmeric Supplementation on Polyp Number and Size in Patient…UNKNOWN
PHASE2
NCT02354560 · Erythromycin Treatment for Readthrough of APC Gene Stop Codo…UNKNOWN
PHASE4
NCT02175914 · Erythromycin Treatment for Readthrough of APC Gene Stop Codo…UNKNOWN
PHASE4🇮🇱 Israel
NCT00319007 · Influence of Sulindac and Probiotics on the Development of P…UNKNOWN
PHASE2🇳🇱 Países Baixos
NCT00253812 · Adenoma Detection Rate:NBI, AFI, Chromoscopic or Standard En…UNKNOWN
NA🇬🇧 Reino Unido
NCT00134758 · Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas i…UNKNOWN
PHASE2, PHASE3🇫🇷 França
NCT05223036 · Testing Obeticholic Acid for Familial Adenomatous PolyposisEncerrado
PHASE2Puerto Rico · 🇺🇸 Estados Unidos
NCT04674228 · Review of Post-Study Clinical Endoscopy Reports in Follow Up…Encerrado
🇺🇸 Estados Unidos
NCT02374931 · 18F-FES PET/CT in Imaging Patients With Desmoid TumorsEncerrado
EARLY_PHASE1🇺🇸 Estados Unidos
NCT01026480 · Ileal Pouch-Anal Anastomosis RegistryEncerrado
🇺🇸 Estados Unidos
NCT01002287 · An Evaluation of SprayShield in Reducing Post-Operative Adhe…Encerrado
NA🇺🇸 Estados Unidos
NCT01052376 · Endomicrocancer: Confocal Endomicroscopy in Patients With Hi…Encerrado
NA🇫🇷 França
NCT00663819 · Bioabsorbable Staple Line Reinforcement in Colorectal,Coloan…Encerrado
NA🇺🇸 Estados Unidos
NCT00585312 · Trial In Pediatric Patients With Familial Adenomatous Polypo…Encerrado
PHASE3🇧🇪 Bélgica · 🇨🇿 Tchéquia · Hong Kong +11
NCT01815463 · Non-Invasive Prediction of Colorectal NeoplasiaEncerrado
🇺🇸 Estados Unidos
NCT00151476 · Observational Familial Adenomatous Polyposis Registry Study …Encerrado
🇨🇦 Canadá · 🇩🇰 Dinamarca · 🇪🇸 Espanha +1
NCT00140894 · A Study of Rofecoxib in Familial Adenomatous Polyposis (FAP)…Encerrado
PHASE4
NCT03027401 · Clinical Sequencing of Cancer and Tissue Repository: OncoGen…Cancelado
🇺🇸 Estados Unidos
NCT01245816 · A Trial of Low Dose Sulindac Combined With Eflornithine in P…Cancelado
PHASE3
NCT00248053 · Use of Curcumin in the Lower Gastrointestinal Tract in Famil…Cancelado
PHASE2
NCT04948398 · Post-Trial Access for Guselkumab in Participants With Famili…NO_LONGER_AVAILABLE
NCT07689942 · Expanded Access to 0.5 mg eRapa for Familial Adenomatous Pol…AVAILABLE
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
1.852 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 1.852

#1

Longitudinal Surveillance of Gastric Polyposis in Familial Adenomatous Polyposis: Incidence, Progression, and Endoscopic Outcomes.

United European gastroenterology journal2026 Apr

Contrariando a visão tradicional que considerava as manifestações gástricas da Polipose Adenomatosa Familiar (PAF) de limitada relevância, este estudo demonstra que a polipose gástrica é uma condição dinâmica e de alto risco. A carga de pólipos fundicos no estômago proximal aumenta substancialmente com o tempo, elevando significativamente o risco de displasia e adenocarcinoma, que infelizmente apresenta desfechos desfavoráveis. Isso exige uma vigilância endoscópica mais rigorosa e direcionada ao estômago proximal em pacientes com PAF, suportando estratégias de acompanhamento personalizadas e baseadas no fenótipo para prevenir o câncer gástrico.

🇧🇷 traduzido
#2

Molecular and regional characterization of colorectal polyps: insights from proteomics, phosphoproteomics, and immune profiling.

Translational gastroenterology and hepatology2026

Este estudo sobre a Polipose Adenomatosa Familiar (FAP) em crianças revela que os pólipos no lado direito do cólon (proximal) são molecularmente mais agressivos, apresentando maior dano ao DNA, atividade elevada das proteínas ATR e CDK4, e menor vigilância do sistema imunológico, em comparação com os pólipos do lado esquerdo (distal). Para pacientes e médicos, essa heterogeneidade regional sugere que a localização dos pólipos é crucial e pode exigir estratégias de prevenção e tratamento mais personalizadas, com a inibição de ATR e CDK4 emergindo como potenciais alvos terapêuticos.

🇧🇷 traduzido
#3

Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.

Gastroenterology2026 Mar 09

O estudo revela que uma proporção considerável (9-14%) de pacientes com polipose adenomatosa, sem variante germinativa conhecida no gene APC, possui, na verdade, mosaicismo de APC. Para médicos, recomenda-se testar o mosaicismo de APC em pacientes com 20 ou mais adenomas antes dos 60 anos (ou 30+ antes dos 70), que testaram negativo para variantes germinativas. Pacientes com mosaicismo devem realizar colonoscopias e gastroduodenoscopias regulares, e o teste genético para descendentes deve ser considerado devido ao risco potencial de transmissão.

🇧🇷 traduzido
#4

Incidence of Cancer in Patients With Familial Adenomatous Polyposis in the Netherlands: A Nationwide Cohort Study.

Gastroenterology2026 Feb 25

Um estudo nacional holandês em pacientes com Polipose Adenomatosa Familiar (FAP) confirmou que, apesar das cirurgias preventivas para o câncer colorretal, eles ainda enfrentam um risco significativamente elevado para múltiplos tipos de câncer. Notavelmente, o câncer gástrico se tornou o mais diagnosticado desde 2020, e há riscos elevados para outros cânceres gastrointestinais (como duodenal, ampular) e extraintestinais (como tireoide, ginecológicos e do sistema nervoso central). Isso sublinha a necessidade de aprimorar urgentemente as estratégias de rastreamento e vigilância para esses pacientes.

🇧🇷 traduzido
#5

Cold snare polypectomy for 10-19 mm colorectal adenomas in familial adenomatous polyposis: a prospective randomized controlled trial.

Scandinavian journal of gastroenterology2026 Feb 24

Um estudo recente demonstrou que a polipectomia com ansa fria (CSP) é tão eficaz quanto a polipectomia com ansa quente (HSP) para remover completamente adenomas colorretais de 10-19mm em pacientes com polipose adenomatosa familiar (FAP). Para médicos e pacientes, a CSP oferece vantagens significativas: é mais rápida, menos custosa e está associada a menos complicações graves, como sangramento tardio ou síndrome pós-polipectomia, em comparação com a HSP, apesar de um risco ligeiramente maior de sangramento imediato e controlável. Isso sugere que a CSP é uma opção segura e eficiente para o manejo desses pólipos em pacientes com FAP.

🇧🇷 traduzido

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Hereditary cancer in clinical practice
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DEN open
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Effectiveness and Safety of Cold Snare Polypectomy in Intensive Downstaging Polypectomy for Colorectal Polyps in Patients with Familial Adenomatous Polyposis.

Digestion
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Familial cancer
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Comparing surgical outcomes of robotic and laparoscopic or open ileal pouch-anal anastomosis: a systematic review and meta-analysis.

Journal of robotic surgery
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Malignant Testicular Sex Cord-Stromal Tumor With Signet Ring Stromal Features Associated With Familial Adenomatous Polyposis.

Mayo Clinic proceedings
2025

APC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation.

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Endoscopy international open
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Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
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The international journal of medical robotics + computer assisted surgery : MRCAS
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Twin research and human genetics : the official journal of the International Society for Twin Studies
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2025

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medRxiv : the preprint server for health sciences
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Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society
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Arquivos de gastroenterologia
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Cancer gene therapy
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Translational cancer research
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Annals of gastroenterological surgery
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The American journal of surgical pathology
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BMJ case reports
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Dietary lipids, not ketone body metabolites, influence intestinal tumorigenesis in a ketogenic diet.

bioRxiv : the preprint server for biology
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Frontiers in oncology
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The efficacy of genetic counseling for familial colorectal cancer: A meta-analysis.

Journal of genetic counseling
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Robot-Assisted Multiquadrant Operation: Proctocolectomy and Abdominoperineal Resection Using the Da Vinci Xi for Familial Adenomatous Polyposis With Rectal Carcinoma.

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Familial adenomatous polyposis: non-surgical management of large bowel disease: endoscopic and chemoprevention strategies.

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Redefining familial adenomatous polyposis: competition, cooperation, and the path to monoclonality.

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Screening and surveillance of hereditary upper GI cancers.

Best practice &amp; research. Clinical gastroenterology
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American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting
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Diagnostics (Basel, Switzerland)
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Upper GI polyposis and cancer in FAP: diagnosis, surveillance and treatment.

Familial cancer
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A Closer Look: Familial Adenomatous Polyposis Suspected Through Ophthalmological Findings in an Adolescent.

Cureus
2025

Ileal pouch-anal anastomosis in familial adenomatous polyposis and ulcerative colitis with coexisting colorectal cancer: a guideline for treatment.

Journal of surgical case reports
2025

Familial polyposis syndrome and achalasia in a young adult.

JPGN reports
2025

Impact of stool transplantation and metformin on polyp reduction and inflammation in an APC Min mouse model.

Intestinal research
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[A Case of Rectal Cancer with Lateral Lymph Node, Liver and Lung Metastases after Surgery, Successfully Undergoing Radical Resection with Multidisciplinary Treatment].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
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Screening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes.

Virchows Archiv : an international journal of pathology
2025

Mental Health in Familial Adenomatous Polyposis: A Systematic Review.

Psycho-oncology
2025

Intestinal transplantation in Familial Adenomatous Polyposis.

Familial cancer
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Hereditary Colorectal Cancer: Clinical Implications of Genomic Medicine and Precision Oncology.

Journal of the anus, rectum and colon
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Hereditary Colorectal Cancer: From Diagnosis to Surgical Options.

Clinics in colon and rectal surgery
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Nature communications
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A Systematic Review of Cost-Effectiveness Studies on Pancreatic Cancer Screening.

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Current Guidelines and Advances in the Management of Fundic Gland Polyps.

Journal of gastroenterology and hepatology
2025

Decoding the genetic and environmental forces in propelling the surge of early-onset colorectal cancer.

Chinese medical journal
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Genetics, genomics and clinical features of adenomatous polyposis.

Familial cancer
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A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants.

Familial cancer
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Population Prevalence of the Major Thyroid Cancer-Associated Syndromes.

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Case reports in gastrointestinal medicine
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One hundred years of the St Mark's hospital polyposis registry.

Familial cancer
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Case reports in vascular medicine
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Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
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Current oncology (Toronto, Ont.)
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An uncommon intersection: Familial adenomatous polyposis and solid pseudopapillary neoplasm of the pancreas: A case report and review of the literature.

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Robotic proctocolectomy with ileal pouch-anal anastomosis: a hybrid approach.

International journal of colorectal disease
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Outcomes of intestinal transplantation for familial adenomatous polyposis-associated intra-abdominal desmoid disease.

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Antitumor efficacy of intermittent low-dose erlotinib plus sulindac via MHC upregulation and remodeling of the immune cell niche.

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Ver todos os 2.548 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Polipose adenomatosa familiar.

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Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Polipose adenomatosa familiar e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

A Polipose adenomatosa familiar é uma síndrome hereditária em que se desenvolvem centenas a milhares de pólipos no cólon e reto a partir da juventude. Sem acompanhamento preventivo, esses pólipos possuem risco praticamente total de evoluir para câncer colorretal ao longo da vida.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

9 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. ORPHA:733
    Orphanet
  2. GARD:6408
    GARD (NIH)
  3. Q1369011
    Wikidata

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (s.d.). Polipose adenomatosa familiar. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/polipose-adenomatosa-familiar

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Polipose adenomatosa familiar
Compêndio · Raras BR

Polipose adenomatosa familiar

ORPHA:733 · MONDO:0021055
Prevalência
1-9 / 100 000
Herança
Autosomal dominant, Autosomal recessive
CID-10
D12.6 · Neoplasia benigna do cólon, não especificada
CID-11
Ensaios
23 ativos
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0032580
Testes
214 disponíveis
EuropePMC
Wikidata
Wikipedia
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Rara