Richtlijn: Erfelijke darmkanker (1.0) - Genootschap van Maag-Darm ...

InhoudsopgaveAlgemeen.......................................................................................................................................................1Incidentie en risico's.....................................................................................................................................6Lynch syndroom.................................................................................................................................6DNA mismatch repair gen............................................................................................................7Familiair CRC.....................................................................................................................................9Adenomateuze polyposis.................................................................................................................12Diagnostiek..................................................................................................................................................14Kenmerken en verwijscriteria...........................................................................................................14Lynch syndroom.........................................................................................................................14Familiair CRC.............................................................................................................................20Adenomateuze polyposis...........................................................................................................20Laboratoriumonderzoek Lynch Syndroom.......................................................................................28Diagnostische tests....................................................................................................................28Restrisico op mutatie.................................................................................................................32Laboratoriumsetting...................................................................................................................34Psychosociale zorg en voorlichting..................................................................................................34Surveillance.................................................................................................................................................35Lynch syndroom...............................................................................................................................35Start en interval colonoscopische surveillance..........................................................................35Voorbereiding colonoscopie.......................................................................................................37Compliance met colonoscopische surveillance.........................................................................39Gynaecologische surveillance...................................................................................................41Familiair CRC...................................................................................................................................42Start en interval colonoscopische surveillance..........................................................................42Voorbereiding colonoscopie.......................................................................................................49Compliance met colonoscopische surveillance.........................................................................49Adenomateuze polyposis.................................................................................................................49Voorbereiding endoscopie.........................................................................................................49Compliance met endoscopische surveillance............................................................................49Duodenum.................................................................................................................................49Behandeling.................................................................................................................................................50Lynch syndroom...............................................................................................................................50Colectomie.................................................................................................................................50Chemopreventie.........................................................................................................................51Familiair CRC...................................................................................................................................51Adenomateuze polyposis.................................................................................................................51Colon en rectum.........................................................................................................................51Duodenum.................................................................................................................................57Desmoïdtumoren.......................................................................................................................62Taakverdeling en organisatie.....................................................................................................................67Verwijzing.........................................................................................................................................67Laboratoriumsetting..........................................................................................................................70Instellingen.......................................................................................................................................71Adressen..........................................................................................................................................73Psychosociale zorg en voorlichting..........................................................................................................76Erfelijkheidsadvisering......................................................................................................................76Risicocommunicatie.........................................................................................................................79At-risk familieleden...........................................................................................................................79Kinderen met polyposis....................................................................................................................81Kinderwens en zwangerschap.........................................................................................................82Maatschappelijke gevolgen..............................................................................................................83i