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Thromb Haemost 2011; 105(05): 921-924
DOI: 10.1160/TH10-08-0517
Letters to the Editor
Schattauer GmbH

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

Silvia Giannini
1   Division of Internal and Cardiovascular Medicine, Department of Internal Medicine, University of Perugia, Perugia, Italy
,
Maria Solimando
2   Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Medical Specialties, IRCCS Maggiore Hospital and University of Milan, Milan, Italy
,
Tiziana Fierro
1   Division of Internal and Cardiovascular Medicine, Department of Internal Medicine, University of Perugia, Perugia, Italy
,
Luciano Baronciani
2   Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Medical Specialties, IRCCS Maggiore Hospital and University of Milan, Milan, Italy
,
Augusto B. Federici
2   Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Medical Specialties, IRCCS Maggiore Hospital and University of Milan, Milan, Italy
3   Division of Hematology and Transfusion Medicine, L. Sacco University Hospital, Milan, Italy
,
Paolo Gresele
1   Division of Internal and Cardiovascular Medicine, Department of Internal Medicine, University of Perugia, Perugia, Italy
› Author Affiliations
Further Information

Publication History

Received: 10 August 2011

Accepted after major revision: 13 January 2011

Publication Date:
28 November 2017 (online)

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  • 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.
    CrossrefPubMedGoogle Scholar
  • 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.
    PubMedGoogle Scholar
  • 3 Federici AB, Rand JH, Bucciarelli P. et al. Acquired von Willebrand syndrome: data from an international registry. Thromb Haemost 2000; 84: 345-349.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 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.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 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.
    PubMedGoogle Scholar
  • 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.
    CrossrefPubMedGoogle Scholar
  • 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.
    PubMedGoogle Scholar
  • 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.
    CrossrefPubMedGoogle Scholar
  • 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.
    PubMedGoogle Scholar
  • 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.
    CrossrefPubMedGoogle Scholar
  • 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.
    CrossrefPubMedGoogle Scholar
  • 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.
    CrossrefPubMedGoogle Scholar
  • 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.
    CrossrefPubMedGoogle Scholar
  • 14 Giannini S, Cecchetti L, Mezzasoma AM. et al. Diagnosis of platelet-type von Willebrand disease by flow cytometry. Haematologica 2010; 95: 1021-1024.
    CrossrefPubMedGoogle Scholar
  • 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.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 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.
    PubMedGoogle Scholar
  • 17 Erhardt L, Herlitz J, Bossaert L. et al. Task force on the management of chest pain. Eur Heart J 2002; 23: 1153-1176.
    CrossrefPubMedGoogle Scholar
  • 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.
    CrossrefPubMedGoogle Scholar
  • 19 Marchetti M, Falanga A. Leukocytosis, JAK2V617F mutation, and haemostasis in myeloproliferative disorders. Pathophysiol Haemost Thromb 2008; 36: 148-159.
    PubMedGoogle Scholar
  • 20 Hoffman M, Blum A, Baruch R. et al. Leukocytes and coronary heart disease. Atherosclerosis 2004; 172: 1-6.
    CrossrefPubMedGoogle Scholar
  • 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.
    Google Scholar
  • 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.
    CrossrefPubMedGoogle Scholar
  • 23 Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand disease. Blood 1987; 68: 454-455.
    PubMedGoogle Scholar