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Hereditaire hemochromatose (HH)

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Startpagina - Hereditaire Hemochromatose (HH)

Beoordeeld: 28-10-2018
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IJzerstapeling

Waar gaat deze richtlijn over?

Deze richtlijn gaat over diagnostiek, behandeling en follow-up van volwassenen met hereditaire hemochromatose, dan wel verdenking op of een verhoogde kans daarop.

De richtlijn bevat nieuwe aanbevelingen voor:

  • Diagnostisch vervolgonderzoek bij klinische verdenking hereditaire hemochromatose (inclusief flow-chart voor work-up bij verdenking hemochromatose/verhoogd ferritine met plaatsbepaling aanvullend genetisch onderzoek en MRI-lever-ijzer)
  • Genetisch onderzoek bij familieleden van mensen met hereditaire hemochromatose
  • Interpretatie van genetisch onderzoek bij mensen met ijzerstapeling
  • Starten en stoppen met aderlaten, in de ontijzeringsfase en de onderhoudsfase
  • De plaats van erythrocytaferese in de behandeling van hereditaire hemochromatose
  • Follow-up van mensen met hereditaire hemochromatose met betrekking tot orgaanschade

Daarnaast zijn de teksten van de richtlijn uit 2007 geactualiseerd, zodat de richtlijn aanbevelingen bevat voor het gehele spectrum van diagnostiek, behandeling en follow-up bij hereditaire hemochromatose.

 

Voor wie is deze richtlijn bedoeld?

De doelgroep van deze richtlijn zijn professionals die zich bezighouden met medisch specialistische zorg voor mensen met (verdenking op of verhoogde kans op) hereditaire hemochromatose. Hieronder worden in ieder geval verstaan: internisten, maag-darm-leverartsen, hematologen, radiologen, klinisch chemici en klinisch genetici. Maar, ook anderen kunnen deze richtlijn gebruiken.

 

Voor patiënten

Deze richtlijn gaat over diagnose, behandeling en begeleiding van mensen met hereditaire hemochromatose. Het gaat hierbij om een erfelijke ziekte, waarbij mensen teveel ijzer in hun lichaam hebben. Om de diagnose hereditaire hemochromatose te stellen, wordt bloedonderzoek en DNA-onderzoek gedaan. Als er teveel ijzer in het lichaam blijft kunnen organen, zoals de lever, beschadigen. Bij de behandeling van hemochromatose wordt daarom het teveel aan ijzer uit het bloed gehaald. Mensen met hereditaire hemochromatose hebben niet altijd klachten, maar moeten soms wel behandeld worden om ernstige gevolgen te voorkomen. Daarom kan genetisch onderzoek van familieleden van mensen met hereditaire hemochromatose nuttig zijn.

De richtlijn geeft aanbevelingen voor al deze onderwerpen.

Betrouwbare informatie voor patiënten kan gevonden worden op: https://www.thuisarts.nl/hemochromatose en https://hemochromatose.nl/hemochromatose-in-het-kort/.

 

Bij deze richtlijn is een keuzekaart ontwikkeld. Een keuzekaart kan helpen bij het maken van keuzes over screening, diagnose en behandeling in het kader van samen beslissen. Meer informatie over behandelmogelijkheden bij primaire ijzerstapeling kunt u vinden op de keuzekaart Diagnose ijzerstapeling (primaire hemochromatose).

 

Hoe is de richtlijn tot stand gekomen?

Het initiatief voor de ontwikkeling van deze richtlijn is genomen door de Nederlandse Internisten Vereniging. De richtlijn is ontwikkeld door een multidisciplinaire richtlijnwerkgroep. Deze werkgroep werd ondersteund door PROVA en het bureau van de Nederlandse Internisten Vereniging. Na inventarisatie van knelpunten werd een aantal nieuwe uitgangsvragen voor de richtlijn uitgewerkt. Ook is een update van de richtlijn uit 2007 doorgevoerd en geïntegreerd tot een nieuwe richtlijn.

Onderbouwing

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Afbakening en definities