Acquired von Willebrand syndrome type 2A in a JAK2-positive essential thrombocythaemia -affected member of a large von Willebrand disease family with a novel autosomal dominant A1716P mutation

• References

• 1 Federici AB. Acquired von Willebrand syndrome: an underdiagnosed and misdiagnosed bleeding complication in patients with lymphoproliferative and myeloproliferative disorders. Semin Hematol 2006; 43 S 48-58.
• 2 Mohri H, Motomura S, Kanamori H, Matsuzaki M. et al. Clinical significance of inhibitors in acquired von Willebrand syndrome. Blood 1998; 91: 3623-3629.
• 3 Federici AB, Rand JH, Bucciarelli P. et al. Acquired von Willebrand syndrome: data from an international registry. Thromb Haemost 2000; 84: 345-349.
• 4 Federici AB, Budde U, Rand JH. Acquired von Willebrand syndrome 2004: international registry-diagnosis and management from online to bedside. Hamostaseologie 2004; 24: 50-55.
• 5 Budde U, Dent JA, Berkowitz SD. et al. Subunit composition of plasma von Willebrand factor in patients with the myeloproliferative syndrome. Blood 1986; 68: 1213-1217.
• 6 Van Genderen PJJ, Prins FJ, Lucas IS. et al. Decreased half-life time of plasma von Willebrand factor collagen binding activity in essential thrombocythemia: normalization after cytoreduction of the increased platelet count. Br J Haematol 1997; 99: 832-836.
• 7 Budde U, Scharf R, Franke P. et al. Elevated platelet count as a cause of abnormal von Willebrand factor multimer distribution in plasma. Blood 1993; 82: 1749-1757.
• 8 Van Genderen P, Budde U, Michiels J. et al. The reduction of large von Willebrand factor multimers in plasma in essential thrombocythaemia is related to the platelet count. Br J Haematol 1996; 93: 962-965.
• 9 Giannini S, Mezzasoma AM, Guglielmini G. et al. A new case of acquired Glanzmann’s thrombasthenia: diagnostic value of flow cytometry. Cytometry B Clin Cytom 2008; 74: 194-199.
• 10 Emiliani C, Ciferri S, Mencarelli S. et al. Defective platelet beta-N-acetyl hexosaminidase content and release in chronic myeloproliferative disorders. Platelets 2006; 17: 20-9.
• 11 Giannini S, Mezzasoma AM, Leone M. et al. Laboratory diagnosis and monitoring of desmopressin treatment of von Willebrand’s disease by flow cytometry. Haematologica 2007; 92: 1647-1654.
• 12 Tosetto A, Rodeghiero F, Castaman G. et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006; 4: 766-773.
• 13 Gresele P, Falcinelli E, Giannini S. et al. Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. Haematologica 2009; 94: 663-669.
• 14 Giannini S, Cecchetti L, Mezzasoma AM. et al. Diagnosis of platelet-type von Willebrand disease by flow cytometry. Haematologica 2010; 95: 1021-1024.
• 15 Baronciani L, Cozzi G, Canciani MT. et al. Molecular characterization of a multiethnic group of 21 patients with type-3 von Willebrand disease. Thromb Haemost 2000; 84: 536-540.
• 16 Castaman G, Giacomelli S, Obser T. et al. Transient expression of two novel von Willebrand factor mutations (I1343V and A1716P) in the collagen binding domains of the protein. J Thromb Haemost. 2009 7: Abstract PP-WE-630.
• 17 Erhardt L, Herlitz J, Bossaert L. et al. Task force on the management of chest pain. Eur Heart J 2002; 23: 1153-1176.
• 18 Van Genderen PJJ, Michiels JJ, Van der Poelvan de Luytgaarde SC. et al. Acquired von Willebrand disease as a cause of recurrent mucocutaneous bleeding in primary thrombocythemia: relationship with platelet count. Ann Hematol 1994; 69: 81-4.
• 19 Marchetti M, Falanga A. Leukocytosis, JAK2V617F mutation, and haemostasis in myeloproliferative disorders. Pathophysiol Haemost Thromb 2008; 36: 148-159.
• 20 Hoffman M, Blum A, Baruch R. et al. Leukocytes and coronary heart disease. Atherosclerosis 2004; 172: 1-6.
• 21 Tefferi A. Reactive and clonal thrombocytosis. In: Platelets in haematologic and cardiovascular disorders: a clinical handbook. Cambridge: Cambridge University Press; 2008. pp. 186-200.
• 22 Campbell PJ, Scott LM, Buck G. et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 2005; 366: 1945-1953.
• 23 Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand disease. Blood 1987; 68: 454-455.