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Marfans syndrom

Sist revidert:
Sist revidert av:
Definisjon:
Arvelig bindevevssykdom med nedsatt styrke i bindevev. Autosomalt dominant arv.
Forekomst:
Er ca. 1 per 10.000, med lik kjønnsfordeling
Symptomer:
Aortaaneurisme og klaffefeil kan gi sviktsymptomer i alvorlige tilfeller, men er ofte asymptomatisk. Nedsatt syn er vanlig. Økt lengdevekst av knokler, særlig i lemmene. Feilstillinger i ledd, smerter og hypermobile ledd er vanlig.
Funn:
Utvidet aortarot og klaffefeil ved ekko cor. Ev. bilyder over hjertet. Linsedislokasjon, ev. brytningsfeil. Lange lemmer, deformitet i thorax, skoliose, plattfot.
Diagnostikk:
Øye-undersøkelse og kardiologisk undersøkelse. Beskrive funn ved skjelettsystemet. Diagnose stilles ved bruk av diagnostiske kriterier og bekreftes med gentest for FBN1.
Behandling:
Av eventuelle komplikasjoner fra øyne eller hjerte-kar systemet.
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  • Terje Johannessen, professor i allmennmedisin, Trondheim

Tidligere fagmedarbeidere

  • Nina Riise, overlege, TRS kompetansesenter for sjeldne diagnoser, Sunnaas sykehus
  • Arild Aamodt, overlege/professor, Ortopedisk avdeling, Lovisenberg Sykehus, Oslo