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– Vi har ingen helbredende behandling, sier legen som så langt har påvist sykdommen hos fem norske menn.
Den alvorlige sykdommen er kun påvist hos menn og skyldes mutasjoner i et gen som koder viktige biologiske prosesser. Hvorfor det skjer, vet legene ikke. Noen helbredende behandling har de heller ikke, og sykdommen kan være dødelig.
Sykdommen har fått navnet VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). Syndromet omtales på norsk som «alvorlig inflammatoriske sykdom hos voksne menn».
– Vi hørte om dette første gang i november 2020, og vi har så langt påvist sykdommen hos fem pasienter på Oslo universitetssykehus (OUS), sier Øyvind Midtvedt, overlege ved revmatologisk seksjon, til Nettavisen.
Den første pasienten gikk bort, og det var først etter hans død at legene koblet hans sykdomstilstand til det nyoppdagede syndromet.
– Vi forstod ut fra det vi hadde lest i fagtidsskrifter at dette kunne være VEXAS-syndromet. Vi tok kontakt med ektefellen til avdøde og fikk tillatelse til å gjøre genetiske tester. Dette er en sykdom som kun kan bekreftes gjennom genetisk analyse, en analyse som er tilgjengelige i Norge. For legene som behandlet pasienten gjennom mange år og ikke minst for de pårørende, var det en lettelse at en endelig kunne stille riktig diagnose, forklarer han.
Rammer middelaldrende menn
Det synes å være middelaldrende menn som er utsatt. Sykdommen gir symptomer som nedsatt allmenntilstand, feberepisoder, betennelse i nese- eller ørebrusk (kondritt), de kan ha utslett og de kan ha forandringer i lunger. Lav blodprosent, blodpropp, høy blodsenkning og høy CPR som tegn på kraftig betennelse er også kjennetegn.
– Sykdommen er ikke medfødt, og den er ikke smittsom. Vi kjenner ikke risikofaktorene. Syndromet er sjeldent, men sannsynligvis underdiagnostisert på grunn av manglende kjennskap til tilstanden.
Vi behandler symptomene med kortison og betennelsesdempende medisiner, sier Midtvedt og sier norske leger har hatt dialog med utenlands ekspertise på området.
– Siden det dreier seg om endringer i et gen, har vi ingen helbredende behandling. Så langt har vi ikke kommet, men utviklingen med raskere og billigere gensekvensering er til hjelp for diagnostikk av sykdommen, sier han.
Forsket på sebrafisk
Midtvedt forteller at de amerikanske forskerne som først påviste VEXAS-syndromet begynte med å se på et pasientregister med uklare betennelsessykdommer. Så fant de en fellesnevner, en mutasjon, det vil si en endring i et gen (UBA1-gen). Genavviket forårsaker en forstyrrelse i en sentral biologisk prosess som igjen fører til kraftig betennelse. I et forsøk der de genmanipulerte sebrafisk klarte de å framkalle sykdom hos fisk.
Dermed kunne de gi en beskrivelse av sykdommens symptomer og si at den var forårsaket av mutasjon i det aktuelle genet. Genet er lokalisert i X-kromosomet, som menn kun har ett av. Det er grunnen til at menn er mer sårbare for denne sykdommen.
– Det at vi ser at endringer i et gen gir slike betennelsesaktige syndromer er interessante funn og bør åpne opp for mer forskning, sier Midtvedt til Nettavisen.
Også påvist i Danmark
To leger ved Rigshospitalet i Danmark har nylig gått ut og fortalt at de har kunnet påvise sykdommen hos fem pasienter av en gruppe på 1000 med hittil uforklarlige symptomer.
De danske legene fant de samme genetiske mutasjonene, hematologisk og revmatologiske symptomer hos de aktuelle pasientene. Feber, blodpropper og betennelse i brusk, lungevev og blodkar er også fellesnevnere, meldte nettstedet Sundhedspolitisk Tidsskrift i sin omtale av saken tidligere i høst.
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