Massive muscle haematoma three months after starting vitamin K antagonist therapy for deep-vein thrombosis in an antithrombin deficient patient: Another case of factor IX propeptide mutation

Maximilian Jahns; Dorothea Friess; Franziska Demarmels Biasiutti; Johanna A. Kremer Hovinga; Lorenzo Alberio; Johannes Oldenburg; Bernhard Lämmle; Giuseppe Colucci

doi:10.1160/TH11-03-0191

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2011; 106(02): 381-382
DOI: 10.1160/TH11-03-0191

Letters to the Editor

Schattauer GmbH

Massive muscle haematoma three months after starting vitamin K antagonist therapy for deep-vein thrombosis in an antithrombin deficient patient: Another case of factor IX propeptide mutation

Authors

Maximilian Jahns

¹Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland
Dorothea Friess

¹Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland
Franziska Demarmels Biasiutti

¹Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland
Johanna A. Kremer Hovinga

¹Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland
Lorenzo Alberio

¹Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland
Johannes Oldenburg

²Institute of Experimental Hematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany
Bernhard Lämmle

¹Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland
Giuseppe Colucci

¹Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland

Abstract

Full Text

References

References
1 Chu K, Wu SM, Stanley T. et al. A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism. J Clin Invest 1996; 98: 1619-1625.
2 Oldenburg J, Kriz K, Wuillemin WA. et al. Genetic predisposition to bleeding during oral anticoagulant therapy: evidence for common founder mutations (FIXVal-10 and FIXThr-10) and an independent CpG hotspot mutation (FIXThr-10). Thromb Haemost 2001; 85: 454-457.
3 Luxembourg B, Delev D, Geisen C. et al. Molecular basis of antithrombin deficiency. Thromb Haemost 2011; 105: 635-646.
4 Oldenburg J, Quenzel EM, Harbrecht U. et al. Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy. Br J Haematol 1997; 98: 240-244.
5 Tassies D, Monteagudo J, Maragall S. et al. No impact of factor IX Ala-10 mutations in acenocoumarol-treated southern Europeans. Blood Coagul Fibrinolysis 2005; 16: 563-566.
6 Peters J, Luddington R, Brown K. et al. Should patients starting anticoagulant therapy be screened for missense mutations at Ala-10 in the factor IX propeptide?. Br J Haematol 1997; 99: 467-468.
7 van der Meer FJ, Vos HL, Rosendaal FR. No indication for APTT screening in patients on oral anticoagulant therapy. Thromb Haemost 1999; 81: 364-366.
8 van der Heijden JF, Rekke B, Hutten BA. et al. Nonfatal major bleeding during treatment with vitamin K antagonists: influence of soluble thrombomodulin and mutations in the propeptide of coagulation factor IX. J Thromb Haemost 2004; 2: 1104-1109.
9 Aegerter C, Fontana S, Fux C. et al. Life threatening bleeding under adequate oral anticoagulation. Hamostaseologie 2003; 23: 113-116.
10 Ulrich S, Brand B, Speich R. et al. Congenital hypersensitivity to vitamin K antagonists due to FIX propeptide mutation at locus -10: a (not so) rare cause of bleeding under oral anticoagulant therapy in Switzerland. Swiss Med Wkly 2008; 138: 100-107.
11 Holbro A, Marbet GA, Tran TH. et al. Prosthetic heart valves and rare hypersensitivity to vitamin K antagonists resulting from factor IX mutation: how to manage anticoagulation?. Haemophilia 2010; 1: 187-189.