Download PDF
Hamostaseologie 2005; 25(04): 367-375
DOI: 10.1055/s-0037-1619668
Original Article
Schattauer GmbH

Angeborenes und erworbenes von-Willebrand-Syndrom

Inborn and acquired von Willebrand disease
R. Schneppenheim
1   Klinik für Pädiatrische Hämatologie und Onkologie, Universitätskrankenhaus Eppendorf, Hamburg
,
M. Barthels
2   Abteilung Hämatologie, Hämostaseologie und Onkologie, Medizinische Hochschule Hannover
,
U. Budde
3   Labor Prof. Arndt und Partner, Hamburg
› Author Affiliations
Further Information

Publication History

Publication Date:
27 December 2017 (online)

Also available at
    Permissions and Reprints

Zusammenfassung

Das von-Willebrand-Syndrom (VWS) ist bekannt für seine ausgesprochene Heterogenität, die sich in der klinischen Symptomatik wie in der Pathophysiologie ausdrückt. Grundlage der phänotypischen Differenzierung sind quantitative und qualitative Unterschiede des von-Willebrand-Faktors sowie seine multimere Struktur. Es werden die klinisch wichtigsten Daten zur Diagnostik und Therapie des angeborenen und erworbenen VWS dargestellt.

Summary

Von Willebrand disease (VWD) is known for its marked heterogeneity which was already recognized by von Willebrand in 1926. The basis of phenotypic differentiation are quantitative and qualitative or functional differences between the different types and subtypes of VWD. Clinical relevant facts for the practioner on diagnosis and therapy of von Willebrand disease and von Willebrand syndrome are presented.

Schlüsselwörter

Angeborenes von-Willebrand-Syndrom - erworbenes von-Willebrand-Syndrom

Keywords

Von Willebrand disease - von Willebrand syndrom
 

  • Literatur

  • 1 Brown JE, Bosak JO. An ELISA test for the binding of von Willebrand antigen to collagen. Thromb Res 1986; 43: 303-11.
    CrossrefPubMedGoogle Scholar
  • 2 Budde U, Drewke E, Will K. et al. Standardisierte Diagnostik des von Willebrand-Syndroms. Hämostaseologie 2004; 24: 12-26.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 3 Federici AB, Budde U, Rand JH. Acquired von Willebrand-syndrome 2004: International registry. Hämostaseologie 2004; 24: 50-5.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 4 Foster PA, Fulcher CA, Marti T. et al. A major F VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor. J Biol Chem 1987; 262: 8443-6.
    PubMedGoogle Scholar
  • 5 Fujimura Y, Titani K, Holland LZ. et al. A heparinbinding domain of human von Willebrand factor. Characterization and localization to a tryptic fragment extending from amino acid residue Val-449 to Lys-728. J Biol Chem 1987; 262: 1734-9173.
    PubMedGoogle Scholar
  • 6 Ginsburg D, Handin RI, Bonthron DT. et al. Human von Willebrand factor: isolation of complementary DNA (cDNA) clones and chromosomal localization. Science 1985; 228: 1401-6.
    CrossrefPubMedGoogle Scholar
  • 7 Holmberg L, Nilsson IM. Genetic variants of von Willebrand’s disease. Br Med J 1972; 3: 317-20.
    CrossrefPubMedGoogle Scholar
  • 8 Ingerslev J, Hvitfeldt Poulsen L, Sørensen B. Current treatment of von willebrand’s disease. Hämostaseologie 2004; 24: 56-64.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 9 Kalafatis M, Takahashi Y, Girma JP. et al. Localization of a collagen-interactive domain of human von Willebrand factor between amino acid residues Gly 911 and Glu 1,365. Blood 1987; 70: 1577-83.
    PubMedGoogle Scholar
  • 10 Lynch DC, Zimmerman TS, Collins CJ. et al. Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method. Cell 1985; 41: 49-56.
    CrossrefPubMedGoogle Scholar
  • 11 Mancuso DJ, Tuley EA, Westfield LA. et al. Structure of the gene for human von Willebrand factor. J Biol Chem 1989; 264: 19514-27.
    PubMedGoogle Scholar
  • 12 Mazurier C, Parquet Gernez A, Goudemand M. Enzyme-linked immunoabsorbent assay of factor VIII-related antigen. Interest in study of von Willebrand’s disease. Pathol Biol Paris 1977; 25: 18-24.
    PubMedGoogle Scholar
  • 13 Miller MA, Palascak JE, Thompson MR. et al. A modified SDS agarose gel method for determining factor VIII von Willebrand factor multimers using commercially available reagents. Thromb Res 1985; 39: 777-80.
    CrossrefPubMedGoogle Scholar
  • 14 Ruggeri ZM. Classification of von Willebrand disease. In: Verstraete M, Vermylen J, Lijnen R. et al (eds). Thrombosis and Haemostasis 1987. Leuven: Leuven University Press; 1987: 419-45.
    Google Scholar
  • 15 Ruggeri ZM, Zimmerman TS. The complex multimeric composition of factor VIII/von Willebrand factor. Blood 1981; 57: 1140-3.
    PubMedGoogle Scholar
  • 16 Ruggeri ZM, Zimmerman TS. Variant von Willebrand’s disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest 1980; 65: 1318-25.
    CrossrefPubMedGoogle Scholar
  • 17 Ruggeri ZM, Zimmerman TS. Von Willebrand factor and von Willebrand disease. Blood 1987; 70: 895-904.
    PubMedGoogle Scholar
  • 18 Ruggeri ZM. Platelet and von Willebrand factor interactions at the vessel wall. Hämostaseologie 2004; 24: 1-11.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 19 Ruggeri ZM, Pareti FI, Mannucci PM. et al. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand’s disease. N Engl J Med 1980; 302: 1047-51.
    CrossrefPubMedGoogle Scholar
  • 20 Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-5.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 21 Sadler JE, Shelton-Inloes BB, Sorace JM. et al. Cloning and characterization of two cDNAs coding for human von Willebrand factor. Proc Natl Acad Sci USA 1985; 82: 6394-8.
    CrossrefPubMedGoogle Scholar
  • 22 Sakariassen KS, Fressinaud E, Girma JP. et al. Mediation of platelet adhesion to fibrillar collagen in flowing blood by a proteolytic fragment of human von Willebrand factor. Blood 1986; 67: 1515-8.
    PubMedGoogle Scholar
  • 23 Scharrer I. Women with von Willebrand disease. Hämostaseologie 2004; 24: 44-9.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 24 Schneppenheim R, Budde U. Klassifikation des von-Willebrand-Syndroms. Hämostaseologie 2004; 24: 27-36.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 25 Schneppenheim R, Plendl H, Budde U. Luminography – an alternative assay for detection of von Willebrand factor multimers. Thromb Haemost 1988; 60: 133-6.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 26 Schneppenheim R. Molekulare Genetik des von Willebrand Syndroms. Hämostaseologie 2004; 24: 37-43.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 27 Schneppenheim R, Budde U, Krey S. et al. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1. Thromb Haemost 1996; 764: 598-602.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 28 Shulman J, Smith C H, Erlandson M. et al. Vascular hemophilia. A familial hemorraghic disease in males and females characterized by combined antihemophilic globulin deficiency and vascular abnormalities. Pediatrics 1956; 18: 347.
    PubMedGoogle Scholar
  • 29 Verweij CL, de-Vries CJ, Distel B. et al. Construction of cDNA coding for human von Willebrand factor using antibody probes for colonyscreening and mapping of the chromosomal gene. Nucleic Acids Res 1985; 13: 4699-717.
    CrossrefPubMedGoogle Scholar
  • 30 Von Willebrand EA, Jürgens R. Über ein neues vererbbares Blutungsübel: die konstitutionelle Thrombopathie. Dtsch Arch Klin Med 1933; 175: 453-83.
    PubMedGoogle Scholar
  • 31 Von Willebrand EA. Hereditär pseudohemofili. Finska Läkaresällskapets Handlingar 1926; 672: 7-112.
    PubMedGoogle Scholar
  • 32 Weiss HJ, Hoyer LW, Rickles FR. et al. Quantitative assay of a plasma factor deficient in von Willebrand’s disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content. J Clin Invest 1973; 52: 2708-16.
    CrossrefPubMedGoogle Scholar
  • 33 Zimmerman TS, Ratnoff OD, Powell AE. Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand’s disease, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor. J Clin Invest 1971; 50: 244-54.
    CrossrefPubMedGoogle Scholar