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Hereditær hemoragisk telangiektasi (HHT), Oslers sykdom

Sist oppdatert: Sist revidert:
Sist revidert av:
Definisjon:
Arvelig systemsykdom med diffus angiodysplasi.
Forekomst:
Svært varierende forekomst. Prevalens sannsynligvis omkring 1 pr. 5000. Lik fordeling mellom kjønnene.
Symptomer:
Symptomdebut i tidligst i skolealder med residiverende epistaxis, telangiektasier senere. Lesjoner i indre organer og sentralnervesystem er ikke uvanlig. For de fleste øker plagene med alderen.
Funn:
Telangiektasier og funn relatert til shunting av blod i lunger.
Diagnostikk:
Bildediagnostikk kan være aktuelt. En genetisk test gir diagnosen.
Behandling:
Terapi kan være indisert for alvorlige tilfeller med større karmalformasjoner. 
  • Anders Waage, overlege og professor, Hematologisk avdeling, St. Olavs Hospital, og Norges teknisk-naturvitenskapelige universitet, Trondheim
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  • Tor Andre Johannessen, lege og redaktør NEL.