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Hjerteamyloidose

Sist oppdatert: Sist revidert:
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Definisjon:
Skyldes avleiring av amyloidfibriller i hjertets ekstracellulære rom med risiko for å utvikle hjertesvikt med bevart ejeksjonsfraksjon. Flere undertyper
Forekomst:
Øker med alder og varierer mellom 14-25% avhengig av pasientutvalg og påvisningsmetode
Symptomer:
Ofte få symptomer tidlig. Typisk kan være perifere ødemer, venestuvning, dyspné ved aktivitet og etterhvert hvile, slapphet, vekttap, synkopetendens
Funn:
Senere i forløpet hjertesvikt i form av forhøyet venetrykk i v. jugularis, tredje hjertetone, hepatomegali, perifere ødemer, lavt pulstrykk, nedsatt kapillær refylling. Atrieflimmerf/flutter 
Diagnostikk:
Ekkokardiografi påviser venstre ventrikkelhypertrofi. EKG kan vise low-voltage (lave QRS utslag). DPD scintigrafi har meget høy sensitivitet og spesifisitet. MR ikke diagnostisk, men øker diagnostisk sannsynlighet. Kappa/lambda ratio er viktig for å differensiere mellom TTR og AL amyloid.
Behandling:
Rettes mot hjertesvikt og underliggende sykdom. Diuretika og spesifikke sykdomsmodifiserende medikamenter. Direkte transthyretinhemmere er demonstrert effektive, men ikke godkjent for refusjon i Norge. AL amyloidose behandles med kjemoterapi
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  9. Fontana M, Banypersad SM, Treibel TA, et al. Differential Myocyte Responses in Patients with Cardiac Transthyretin Amyloidosis and Light-Chain Amyloidosis: A Cardiac MR Imaging Study. Radiology. 2015;277(2):388-397. doi:10.1148/radiol.2015141744 DOI  
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  15. Venner CP, Lane T, Foard D, et al. Cyclophosphamide, bortezomib, and dexamethasone therapy in AL amyloidosis is associated with high clonal response rates and prolonged progression-free survival. Blood. 2012;119(19):4387-4390. doi:10.1182/blood-2011-10-388462 DOI  
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  • Einar Gude, dr.med. og overlege ved kardiologisk avdeling ved Oslo universitetssykehus, Rikshospitalet
  • Terje Johannessen, professor i allmennmedisin, Trondheim