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Hamostaseologie 2004; 24(04): 221-233
DOI: 10.1055/s-0037-1619638
Original Article
Schattauer GmbH

Ausgeprägte Blutungsneigungen

Angeborener Mangel an Gerinnungsfaktor und erworbene InhibitorenCongenital deficiencies of coagulation factors and acquired inhibitors leading to marked bleeding disorders
E. O. Meili
1   Abteilung Hämatologie (Klinischer Direktor: Prof. J. Fehr), Departement Innere Medizin, Universitätsspital, Zürich, Schweiz
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Publication History

Publication Date:
03 February 2018 (online)

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Zusammenfassung

In dieser Übersicht werden die pathophysiologischen und molekulargenetischen Zusammenhänge erwähnt, die zu schweren Blutungsneigungen durch Gerinnungsfaktormängel bzw. -inhibitoren führen. Diagnostische Besonderheiten, Verlauf und Behandlung einzelner Störungen werden besprochen. Die Übersicht über die Hämophilie A und B umfasst die Konduktorinnenproblematik, Substitutionsbehandlung, ergänzende blutstillende Therapien mit Antifibrinolytika und DDAVP, die spezifische Behandlung der typischen Blutungen, Probleme der Hemmkörperbildung und zukünftige Behandlungsmöglichkeiten. Die autosomal vererbten, homozygoten Blutungsneigungen von-Willebrand-Syndrom (VWS) Typ 3, Afibrinogenämie, Faktor(F)-XIII-, FVII- und FXI-Mangel haben je ihre Spezifitäten, welche für die Behandlung bestimmend sind. Bei den erworbenen Blutungsneigungen durch Inhibitoren wird auf die Mechanismen der Inhibition, die Diagnostik und die Behandlungsprinzipien eingegangen. Besprochen werden die erworbene Hemmkörperhämophilie, das erworbene VWS, der erworbene FV-Mangel und am Rande das erworbene Hypoprothrombin-Lupusantikoagulans.

Summary

This review focuses on symptoms, course and treatment of bleeding disorders due to hereditary coagulation factor deficiencies and acquired inhibitors, mentioning as well the pathophysiologic and molecular genetic aspects and diagnostic particularities. The review of haemophilia A and B deals with carrier problems, replacement therapy, additional haemostatic agents such as antifibrinolytics and desmopressin, the treatment of typical haemorrhages, haemophilia with inhibitors and future therapeutic options. Of the autosomal homozygous bleeding disorders such as von Willebrand disease type 3, afibrinogenaemia, factor XIII-, VII- and XI-deficiency each has its particularities influencing treatment strategies. The last chapter discusses acquired bleeding disorders such as acquired haemophilia A, von Willebrand disease, factor V deficiency and the hypoprothrombinaemia lupus anticoagulant syndrome, the different modes of inhibition, diagnostics and principles of treatment.

Schlüsselwörter

Hämophilie - von-Willebrand-Syndrom Typ 3 - Afibrinogenämie - Faktor VIII - Faktor IX - Faktor XIII - Faktor VII - Faktor XI - Hemmkörperhämophilie

Keywords

Haemophilia - von Willebrand disease type 3 - afibrinogenaemia - factor VIII - factor IX - factor XIII - factor VII - factor XI
 

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