Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder ...ForYouNews&PerspectiveDrugs&DiseasesCME&EducationAcademyVideoEdition:ENGLISHDEUTSCHESPAÑOLFRANÇAISPORTUGUÊSLogInSignUpIt'sFree!Edition:ENGLISHDEUTSCHESPAÑOLFRANÇAISPORTUGUÊSRegisterLogInNoResultsNoResultsForYouNews&PerspectiveDrugs&DiseasesCME&EducationAcademyVideoclosePleaseconfirmthatyouwouldliketologoutofMedscape.Ifyoulogout,youwillberequiredtoenteryourusernameandpasswordthenexttimeyouvisit.LogoutCancelhttps://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTc1Mzc3LW92ZXJ2aWV3processing....Drugs&Diseases>GastroenterologyFamilialAdenomatousPolyposisUpdated:Apr16,2019Author:MohammadWehbi,MD;ChiefEditor:BSAnand,MD more...ShareEmailPrintFeedbackCloseFacebookTwitterLinkedInGoogle+SectionsFamilialAdenomatousPolyposisSectionsFamilialAdenomatousPolyposisOverviewBackgroundPathophysiologyEtiologyEpidemiologyPrognosisShowAllPresentationHistoryPhysicalExaminationShowAllDDxWorkupApproachConsiderationsImagingStudiesLaboratoryStudiesProceduresShowAllTreatmentMedicalCareSurgicalCareConsultationsShowAllMedicationMedicationSummaryNonsteroidalanti-inflammatorydrugsShowAllQuestions&AnswersReferencesOverviewBackgroundFamilialadenomatouspolyposis(FAP)isthemostcommonadenomatouspolyposissyndrome.Itisanautosomaldominantinheriteddisordercharacterizedbytheearlyonsetofhundredstothousandsofadenomatouspolypsthroughoutthecolon.Ifleftuntreated,allpatientswiththissyndromewilldevelopcoloncancerbyage35-40years.Inaddition,anincreasedriskexistsforthedevelopmentofothermalignancies.Seetheimagebelow.Colectomyspecimenobtainedfromapatientwithfamilialadenomatouspolyposis.Notethepresenceofnumeroussynchronousadenomatouspolypsliningtheluminalsurface.SeeBenignorMalignant:CanYouIdentifyTheseColonicLesions?,aCriticalImagesslideshow,tohelpidentifythefeaturesofbenignlesionsaswellasthosewit

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon ) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps ) in the colon as early as their teenage years.YouAreHere:Home→Genetics→GeneticConditions→FamilialadenomatouspolyposisURLofthispage:https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/FamilialadenomatouspolyposisFromGeneticsHomeReference.LearnmoreDescriptionFamilialadenomatouspolyposis(FAP)isaninheriteddisordercharacterizedbycancerofthelargeintestine(colon)andrectum.Peoplewiththeclassictypeoffamilialadenomatouspolyposismaybegintodevelopmultiplenoncancerous(benign)growths(polyps)inthecolonasearlyastheirteenageyears.Unlessthecolonisremoved,thesepolypswillbecomemalignant(cancerous).Theaverageageatwhichanindividualdevelopscoloncancerinclassicfamilialadenomatouspolyposisis39years.Somepeoplehaveavariantofthedisorder,calledattenuatedfamilialadenomatouspolyposis,inwhichpolypgrowthisdelayed.Theaverageageofcolorectalcanceronsetforattenuatedfamilialadenomatouspolyposisis55years.Inpeoplewithclassicfamilialadenomatouspolyposis,thenumberofpolypsincreaseswithage,andhundredstothousandsofpolypscandevelopinthecolon.Alsoofparticularsignificancearenoncancerousgrowthscalleddesmoidtumors.Thesefibroustumorsusuallyoccurinthetissuecoveringtheintestinesandmaybeprovokedbysurgerytoremovethecolon.Desmoidtumorstendtorecuraftertheyaresurgicallyremoved.Inbothclassicfamilialadenomatouspolyposisanditsattenuatedvariant,benignandmalignanttumorsaresometimesfoundinotherplacesinthebody,includingtheduodenum(asectionofthesmallintestine),stomach,bones,skin,andothertissues.PeoplewhohavecolonpolypsaswellasgrowthsoutsidethecolonaresometimesdescribedashavingGardnersyndrome.Amildertypeoffamilialadenomatouspolyposis,calledautosomalrecessivefamilialadenomatouspolyposis,hasalsobeenidentified.Peoplewiththeautosomalrecessivetypeofthisdisor

Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon ...Clipboard,SearchHistory,andseveralotheradvancedfeaturesaretemporarilyunavailable.SkiptomainpagecontentCOVID-19isanemerging,rapidlyevolvingsituation.GetthelatestpublichealthinformationfromCDC:https://www.coronavirus.govGetthelatestresearchinformationfromNIH:https://www.nih.gov/coronavirusFindNCBISARS-CoV-2literature,sequence,andclinicalcontent:https://www.ncbi.nlm.nih.gov/sars-cov-2/ AccesskeysNCBIHomepageMyNCBIHomepageMainContentMainNavigationSearch:SearchAdvancedClipboardUserGuideSaveEmailSendtoClipboardMyBibliographyCollectionsCitationmanagerDisplayoptionsDisplayoptionsFormatAbstractPubMedPMIDSavecitationtofileFormat:Summary(text)PubMedPMIDAbstract(text)CSVCreatefileCancelEmailcitationSubject:To:Format:SummarySummary(text)AbstractAbstract(text)MeSHandotherdataSendemailCancelAddtoCollectionsCreateanewcollectionAddtoanexistingcollectionNameyourcollection:Namemustbelessthan100charactersChooseacollection:UnabletoloadyourcollectionduetoanerrorPleasetryagainAddCancelAddtoMyBibliographyMyBibliographyUnabletoloadyourdelegatesduetoanerrorPleasetryagainAddCancelYoursavedsearchNameofsavedsearch:Searchterms:TestsearchtermsWouldyoulikeemailupdatesofnewsearchresults?SavedSearchAlertRadioButtonsYesNoEmail:(change)Frequency:MonthlyWeeklyDailyWhichday?ThefirstSundayThefirstMondayThefirstTuesdayThefirstWednesdayThefirstThursdayThefirstFridayThefirstSaturdayThefirstdayThefirstweekdayWhichday?SundayMondayTuesdayWednesdayThursdayFridaySaturdayReportformat:SummarySummary(text)AbstractAbstract(text)PubMedSendatmost:1item5items10items20items50items100items200itemsSendevenwhentherearen'tanynewresultsOptionaltextinemail:SaveCancelCreateafileforexternalcitationmanagementsoftwareCreatefileCancelYourRSSFeedNameofRSSFeed:Numberofitemsdisplayed:510152050100CreateRSSCancelRSSLinkCopyFulltextlinksBioMedCentralFreePMCarticleFulltextlinksActionsCiteFavoritesDispl

Familial adenomatous polyposis (FAP) is a rare disease where a number of precancerous polyps develop in the large intestine, increasing ...CORONAVIRUS:DELAYSFORROUTINESURGERIES,VISITORRESTRICTIONS+COVID-19TESTING.Home/HealthLibrary/Disease&ConditionsFamilialAdenomatousPolyposis(FAP)Familialadenomatouspolyposis(FAP)isararediseasewhereanumberofprecancerouspolypsdevelopinthelargeintestine,increasingchancesforcancer.Preventivesurgeryisthestandardtreatment.Appointments&AccessContactUsFamilialAdenomatousPolyposis(FAP)MenuOverviewDiagnosisandTestsManagementandTreatmentWhatisfamilialadenomatouspolyposis(FAP)?Familialadenomatouspolyposis(FAP)isarare,hereditaryconditioninwhichapersondevelopsnumerousprecancerouspolypscalledadenomasinthelargeintestine(colonandrectum).Polypsdevelopinteenyearsorearly20s.Thenumberofpolypsvariesfromlessthan100tothousands,andwithincreasingagethepolypsgetlargerandmoreproblematic.Eventually,oneormoreoftheseadenomaswillbecomecancerous.Withouttreatment,patientswithFAPhaveanearly100%lifetimeriskofcolorectalcancer.Thechanceofdevelopingcolorectalcancerincreaseswithage;theaverageageatwhichpeoplearediagnosedwithcanceris39.Whatcausesfamilialadenomatouspolyposis(FAP)?FAPoccursin1in10,000people.ItiscausedbymutationsintheAPCgenethatinterferewiththefunctionoftheproteinmadebythegene.Thisallowscellstogrowinanuncontrolledwayandpredisposesthemtobecomingcancers.MostpatientswithFAPinheritedamutationinAPCfromoneoftheirparents,whowerealsoaffectedwithFAP.About25%ofthetimethemutationhappenswhenapatientisconceivedandinthiscasethereisnofamilyhistoryofFAPintheparents.BecausepatientswhoarebornwithanAPCmutationhavethemutationineverycellintheircolon,theydevelophundredsandeventhousandsofthesepotentiallyprecancerousadenomas.Becausethemutationisineverycellinthepatientsbody,otherorgansaresusceptibletogrowths,eitherbenignormalignant.Theseotherorgansinclude:Bones(osteomasarebenignbonytumorsusuallyaffectingtheskullandjaw).Themouth(uneruptedteeth,extrateethandodontomas[benigntumors]).Th

Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon ...SkiptomaincontentAdvertisementSearchallBMCarticlesSearchDownloadPDFReviewOpenAccessPublished:12October2009FamilialadenomatouspolyposisElizabethHalf1,DaniBercovich2,3&PaulRozen4,5 OrphanetJournalofRareDiseasesvolume 4,Article number: 22(2009)Citethisarticle56kAccesses261Citations66AltmetricMetricsdetailsAbstractFamilialadenomatouspolyposis(FAP)ischaracterizedbythedevelopmentofmanytenstothousandsofadenomasintherectumandcolonduringtheseconddecadeoflife.FAPhasanincidenceatbirthofabout1/8,300,itmanifestsequallyinbothsexes,andaccountsforlessthan1%ofcolorectalcancer(CRC)cases.IntheEuropeanUnion,prevalencehasbeenestimatedat1/11,300-37,600.Mostpatientsareasymptomaticforyearsuntiltheadenomasarelargeandnumerous,andcauserectalbleedingorevenanemia,orcancerdevelops.Generally,cancersstarttodevelopadecadeaftertheappearanceofthepolyps.Nonspecificsymptomsmayincludeconstipationordiarrhea,abdominalpain,palpableabdominalmassesandweightloss.FAPmaypresentwithsomeextraintestinalmanifestationssuchasosteomas,dentalabnormalities(uneruptedteeth,congenitalabsenceofoneormoreteeth,supernumeraryteeth,dentigerouscystsandodontomas),congenitalhypertrophyoftheretinalpigmentepithelium(CHRPE),desmoidtumors,andextracoloniccancers(thyroid,liver,bileductsandcentralnervoussystem).AlessaggressivevariantofFAP,attenuatedFAP(AFAP),ischaracterizedbyfewercolorectaladenomatouspolyps(usually10to100),laterageofadenomaappearanceandalowercancerrisk.Somelesions(skullandmandibleosteomas,dentalabnormalities,andfibromasonthescalp,shoulders,armsandback)areindicativeoftheGardnervariantofFAP.ClassicFAPisinheritedinanautosomaldominantmannerandresultsfromagermlinemutationintheadenomatouspolyposis(APC)gene.Mostpatients(~70%)haveafamilyhistoryofcolorectalpolypsandcancer.Inasubsetofindividuals,aMUTYHmutationcausesarecessivelyinheritedpolyposiscondition,MUTYH-associatedpolyposis(MAP),whichischar

Familial adenomatous polyposis (FAP) is an autosomal-dominant colorectal cancer syndrome, caused by a germline mutation in the adenomatous polyposis coli ...Clipboard,SearchHistory,andseveralotheradvancedfeaturesaretemporarilyunavailable.SkiptomainpagecontentCOVID-19isanemerging,rapidlyevolvingsituation.GetthelatestpublichealthinformationfromCDC:https://www.coronavirus.govGetthelatestresearchinformationfromNIH:https://www.nih.gov/coronavirusFindNCBISARS-CoV-2literature,sequence,andclinicalcontent:https://www.ncbi.nlm.nih.gov/sars-cov-2/ AccesskeysNCBIHomepageMyNCBIHomepageMainContentMainNavigationSearch:SearchAdvancedClipboardUserGuideSaveEmailSendtoClipboardMyBibliographyCollectionsCitationmanagerDisplayoptionsDisplayoptionsFormatAbstractPubMedPMIDSavecitationtofileFormat:Summary(text)PubMedPMIDAbstract(text)CSVCreatefileCancelEmailcitationSubject:To:Format:SummarySummary(text)AbstractAbstract(text)MeSHandotherdataSendemailCancelAddtoCollectionsCreateanewcollectionAddtoanexistingcollectionNameyourcollection:Namemustbelessthan100charactersChooseacollection:UnabletoloadyourcollectionduetoanerrorPleasetryagainAddCancelAddtoMyBibliographyMyBibliographyUnabletoloadyourdelegatesduetoanerrorPleasetryagainAddCancelYoursavedsearchNameofsavedsearch:Searchterms:TestsearchtermsWouldyoulikeemailupdatesofnewsearchresults?SavedSearchAlertRadioButtonsYesNoEmail:(change)Frequency:MonthlyWeeklyDailyWhichday?ThefirstSundayThefirstMondayThefirstTuesdayThefirstWednesdayThefirstThursdayThefirstFridayThefirstSaturdayThefirstdayThefirstweekdayWhichday?SundayMondayTuesdayWednesdayThursdayFridaySaturdayReportformat:SummarySummary(text)AbstractAbstract(text)PubMedSendatmost:1item5items10items20items50items100items200itemsSendevenwhentherearen'tanynewresultsOptionaltextinemail:SaveCancelCreateafileforexternalcitationmanagementsoftwareCreatefileCancelYourRSSFeedNameofRSSFeed:Numberofitemsdisplayed:510152050100CreateRSSCancelRSSLinkCopyFulltextlinksWoltersKluwerFulltextlinksActionsCiteFavorites

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when they are left untreated.FamilialadenomatouspolyposisFromWikipedia,thefreeencyclopediaJumptonavigationJumptosearchFamilialadenomatouspolyposisOthernamesFAPEndoscopicimageofsigmoidcolonofpatientwithfamilialadenomatouspolyposisSpecialtyGastroenterology,OncologyComplicationsColorectalcancerUsualonset<35yearsofageDurationLifelongTypesClassicalorattenuatedCausesAPCgenemutationDiagnosticmethodColonoscopyGenetictestingDifferentialdiagnosisLynchsyndrome,MUTYH-associatedpolyposisTreatmentColonoscopyPolypectomyUpperendoscopyColectomyFrequency1in10,000-15,000Familialadenomatouspolyposis(FAP)isanautosomaldominantinheritedconditioninwhichnumerousadenomatouspolypsformmainlyintheepitheliumofthelargeintestine.Whilethesepolypsstartoutbenign,malignanttransformationintocoloncanceroccurswhentheyareleftuntreated.Threevariantsareknowntoexist,FAPandattenuatedFAP(originallycalledhereditaryflatadenomasyndrome[1])arecausedbyAPCgenedefectsonchromosome5whileautosomalrecessiveFAP(orMUTYH-associatedpolyposis)iscausedbydefectsintheMUTYHgeneonchromosome1.Ofthethree,FAPitselfisthemostsevereandmostcommon;althoughforallthree,theresultingcolonicpolypsandcancersareinitiallyconfinedtothecolonwall.Detectionandremovalbeforemetastasisoutsidethecoloncangreatlyreduceandinmanycaseseliminatethespreadofcancer.TherootcauseofFAPisunderstoodtobeageneticmutation—achangeinthebody'stumoursuppressorgenesthatpreventdevelopmentoftumours.Thechangeallowsnumerouscellsoftheintestinalwalltodevelopintopotentiallycancerouspolypswhentheywouldusuallyreachtheendoftheirlife;inevitablyoneormorewilleventuallyprogressandgiverisetocancer(7%riskbyage21,risingto87%byage45and93%byage50).Thesegenechangesdonottriggercancer,butrather,theyreducethebody'sabilitytopreventcellsfrombeco

Classic familial adenomatous polyposis, called FAP or classic FAP, is a genetic condition. It is diagnosed when a person develops more than 100 adenomatous ...SkiptoContentSearchMenuYouarehereHome>TypesofCancer>FamilialAdenomatousPolyposisRequestPermissionsFamilialAdenomatousPolyposisApprovedbytheCancer.NetEditorialBoard,11/2020Whatisfamilialadenomatouspolyposis?Classicfamilialadenomatouspolyposis,calledFAPorclassicFAP,isageneticcondition.Itisdiagnosedwhenapersondevelopsmorethan100adenomatouscolonpolyps.Anadenomatouspolypisanareawherenormalcellsthatlinetheinsideofaperson’scolonformamassontheinsideoftheintestinaltract.TheaverageageforpolypstodevelopinpeoplewithFAPisinthemid-teens.MostpeoplewithFAPwillhavemultiplecolonpolypsbyage35.IfFAPisnotrecognizedandtreated,thereisaveryhighlikelihoodthatapersonwilldevelopcolorectalcancer.IndividualswithFAPalsohaveanincreasedchanceofdevelopingcancerinotherorgans,includingthestomach,smallintestine,andthepancreasandbiliarytree.Riskforhepatoblastoma,araretypeoflivercancer,isincreasedinchildrenwithFAP.Alocallyaggressive,non-canceroustumortypecalleddesmoidtumors/desmoidfibromatosisandararetypeofbraintumorcalledmedulloblastomacanalsooccurinsomeindividuals.Riskforpapillarythyroidcancerisalsoincreased.NotallsymptomsofFAParecancer-related.SomeadditionalfeaturesofFAPmayinclude:Osteomas,whicharenon-cancerousbonygrowths,usuallyfoundonthejawExtra,missing,oruneruptedteethCongenitalhypertrophyoftheretinalpigmentepithelium(CHRPE).Thisisaneyeconditionthatispresentatbirththatdoesnotaffectvision,butitisaconditionthataneyedoctormayseeduringanexaminationwithaspecialinstrumentcalledanophthalmoscope.Non-cancerousskinchanges,suchasepidermoidcystsandfibromasAdrenalmassesAretheresubtypesofFAP?TherearesubtypesofFAPwhichcanvarywithclinicalfeatures,including:ClassicFAPistypicallycharacterizedbymorethan100colorectalpolypsasdescribedabove.Surgerytoremovethecolonisoftenthemosteffectivewaytomanagethepolypsandreducetheriskforcolorectalcancer.AttenuatedFAP(AFAP)iso

Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal ...ScrollToTopAboutNewsEventsContactPODCASTStoredonateMenuforPatientsandFamiliesInformation&ResourcesRareDiseaseInformationRareDiseaseVideoLibraryPatientandCaregiverResourceCenterInformationonClinicalTrialsandResearchStudiesCOVID-19ResourcesHelptoAccessMedicationsPatientAssistanceProgramsOtherFinancialAssistanceConnectwithOthersFindaPatientOrganizationRareDiseaseDay®PatientStoriesTakeActionAttendEventsAdvocateSupportCloseforPatientOrganizationsJoinMembershipNetworkValueofMembershipMembershipCriteriaApplyforMembershipNonprofitResourcesMemberResourcesRareLaunch®WebinarSeriesCOVID-19RapidResponseLeadershipSeriesOtherWaystoPartnerGrowyourorganizationPatientRegistriesAdvocacyRareDiseaseDay®RDCA-DAPMembershipProfilesAboutourMembersMemberListRareCancerCoalitionCloseforCliniciansandResearchersResourcesResourcesforMedicalProfessionalsRareDiseaseInformationResourcesforyourPatientsContinuingMedicalEducationResearchOpportunitiesResearchGrantProgramRequestsforProposalsResearchGrantRecipientsConnectLendYourExpertiseRareDiseaseDay®CloseNORDRareDiseaseAdvocacyNORD’sPolicyinActionIssueOverviewsNORDontheIssuesPolicySteeringCommitteeNORDStateReportCardNationalPartnershipsTakeActionLocallyJointheRareActionNetwork®ProjectRDACContactYourRepresentativesTakeActionRareInsights®RareInsights®5MythsAboutOrphanDrugsandtheOrphanDrugActCloseGetInvolvedDonateNowGiveWaystoGiveDonatetoResearchNORD®StoreEducateEducationalInitiativesRaiseAwarenessIdentifyRareDiseaseExpertsJoinParticipateinEventsBecomeaMemberRareCancerCoalitionEmploymentOpportunitiesCorporateCouncilAbouttheCorporateCouncilCurrentMembersCouncilCodeofConductJointheCouncilCloseHome/ForPatientsandFamilies/RareDiseaseInformation/FamilialAdenomatousPolyposisRareDiseaseDatabase0-9•A•B•C•D•E•F•G•H•I•J•K•L•M•N•O•P•Q•R•S•T•U•V•W•X•Y•ZPrintFamilialAdenomatousPolyposisNORDgratefullyacknowledgesRa

Familial adenomatous polyposis (FAP) is a rare, inherited condition caused by a defect in the adenomatous polyposis coli (APC) gene.Scheduleyourappointmentnowforsafein-personcare.Learnmore:MayoClinicfactsaboutcoronavirusdisease2019(COVID-19)Our COVID-19patient andvisitorguidelines,plustrustedhealthinformationLateston COVID-19vaccination bysite:ArizonapatientvaccinationupdatesArizona,FloridapatientvaccinationupdatesFlorida,RochesterpatientvaccinationupdatesRochesterandMayoClinicHealthSystempatientvaccinationupdatesMCHS​​SkiptositenavigationSkiptoContentThiscontentdoesnothaveanEnglishversion.ThiscontentdoesnothaveanArabicversion.SectionsforFamilialadenomatouspolyposisSymptoms&causesDiagnosis&treatmentDoctors&departmentsCareatMayoClinicPrintWe'rewelcomingpatientsatMayoClinicSeeoursafetyprecautionsinresponsetoCOVID-19.Requestanappointment.OverviewFamilialadenomatouspolyposis(FAP)isarare,inheritedconditioncausedbyadefectintheadenomatouspolyposiscoli(APC)gene.Mostpeopleinheritthegenefromaparent.Butfor25to30percentofpeople,thegeneticmutationoccursspontaneously.FAPcausesextratissue(polyps)toforminyourlargeintestine(colon)andrectum.Polypscanalsooccurintheuppergastrointestinaltract,especiallytheupperpartofyoursmallintestine(duodenum).Ifuntreated,thepolypsinthecolonandrectumarelikelytobecomecancerouswhenyouareinyour40s.Mostpeoplewithfamilialadenomatouspolyposiseventuallyneedsurgerytoremovethelargeintestinetopreventcancer.Thepolypsintheduodenumalsocandevelopcancer,buttheycanusuallybemanagedbycarefulmonitoringandbyremovingpolypsregularly.Somepeoplehaveamilderformofthecondition,calledattenuatedfamilialadenomatouspolyposis(AFAP).PeoplewithAFAPusuallyhavefewercolonpolyps(anaverageof30)anddevelopcancerlaterinlife.Products&ServicesBook:MayoClinicFamilyHealthBook,5thEditionNewsletter:MayoClinicHealthLetter—DigitalEditionShowmoreproductsfromMayoClinicSymptomsThemainsignofFAPishundredsoreventhousandsofpolypsgrowinginyourcolonandrectum,usuallystartingbyyourmid-teens.Thepolypsarenearly100