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Inherited resistance to activated protein C and venous thrombosis

  • Conference paper
25. Hämophilie-Symposion Hamburg 1994

  • 23 Accesses

Summary

Venous thromboembolism is a serious health problem, causing considerable suffering. The yearly incidence is around 1 per 1000 people. Circumstantial situations such as surgery, fractures, pregnancy, the use of oral contraceptives, and immunobilization increase the risk of thrombosis. In addition, thrombosis is often familial, suggesting that genetic risk factors are involved [1]. Previously, the major genetic defects known to predispose for thrombosis were deficiencies of protein C, protein S, and antithrombin III which together did not account for more than 5 – 10% of the cases [1]. Recently, hereditary activated protein C (APC) resistance, has been identified as a major basis for familial thrombosis [2, 3]. It is caused by a single point mutation in the factor V gene, changing Arg(R)506 in the APC-cleavage sit of factor V to a Gln(Q) [4–7]. The APC-mediated cleavage and inhibition of mutated factor V (FV:Q506) is impaired which leads to a hypercoagulable state with a lifelong increased risk of thrombosis.

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Authors
  1. B. Zöller
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  2. B. Dahlbäck
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Editor information

Editors and Affiliations

  1. Abteilung für Angiologie, Universitätsklinikum, Theodor-Stern-Kai 7, D-60590, Frankfurt am Main, Deutschland

    Inge Scharrer

  2. Hämostaseologische Abteilung, Med. Univ.-Klinik Innenstadt, Ziemssenstraße 1a, D-80336, München, Deutschland

    Wolfgang Schramm

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© 1996 Springer-Verlag Berlin Heidelberg

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Zöller, B., Dahlbäck, B. (1996). Inherited resistance to activated protein C and venous thrombosis. In: Scharrer, I., Schramm, W. (eds) 25. Hämophilie-Symposion Hamburg 1994. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-79648-7_17

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  • DOI: https://doi.org/10.1007/978-3-642-79648-7_17

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-59103-0

  • Online ISBN: 978-3-642-79648-7

  • eBook Packages: Springer Book Archive

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