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Hereditäre hämorrhagische Teleangiektasie (HHT), Morbus Osler

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Definition:
Autosomal-dominante Systemerkrankung mit Angiodysplasien und Blutungsneigung.
Häufigkeit:
Prävalenz in Europa 1 pro 5.000–8.000.
Symptome:
Erstsymptom im Schulalter spontane und rezidivierende Epistaxis, anschließend Teleangiektasien und ggf. Organläsionen.
Befunde:
Teleangiektasien und Befunde aufgrund von Gefäßshunts in Leber, Lunge und/oder Gehirn.
Diagnostik: 
Diagnosestellung mittels der 4 Curaçao-Kriterien: Epistaxis, Teleangiektasien, Organläsionen und positive Familienanamnese.
Therapie:
Screening auf hepatische, pulmonale und zerebrale Gefäßmalformationen und entsprechende Therapie. Oral Tranexamsäure bei rezidivierendem Nasenbluten.
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  • Lino Witte, Dr. med., Arzt in Weiterbildung, Innere Medizin, Frankfurt
  • Anders Waage, overlege og professor, Hematologisk avdeling, St. Olavs Hospital, og Norges teknisk-naturvitenskapelige universitet, Trondheim