Nordic Haemophilia Council's Practical Guidelines on Diagnosis and Management of von Willebrand Disease

Riitta Lassila; Pål André Holme; Andrea Landorph; Pia Petrini; Páll T Onundarson; Andreas Hillarp

doi:10.1055/s-0031-1281034

Seminars in Thrombosis and Hemostasis, Table of Contents

Semin Thromb Hemost 2011; 37(5): 495-502
DOI: 10.1055/s-0031-1281034

Nordic Haemophilia Council's Practical Guidelines on Diagnosis and Management of von Willebrand Disease

Riitta Lassila¹ , Pål André Holme² , Andrea Landorph³ , Pia Petrini⁴ , Páll T. Onundarson⁵ , Andreas Hillarp⁶

¹Unit of Coagulation Disorders, Department of Hematology and Clinical Chemistry Laboratory Services, Helsinki University Central Hospital, Helsinki, Finland
²Department of Hematology, Oslo University Hospital, Oslo, Norway
³Thrombosis and Hemostasis Unit, Rigshospitalet, Copenhagen, Denmark
⁴The Coagulation Unit for Children, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden
⁵Department of Laboratory Hematology and Coagulation Disorders at Landspitali and University of Iceland School of Medicine, Reykjavik, Iceland
⁶Malmö Centre for Thrombosis and Haemostasis, University and Regional Laboratories Region Scania. University Hospital, Malmö, Sweden

Abstract

ABSTRACT

von Willebrand disease (VWD) is the most common inherited bleeding disorder characterized by spontaneous or tissue injury–related, mostly mucocutaneous, bleeding events. VWD affects both males and females and is caused by quantitative or qualitative deficiency of von Willebrand factor. The diagnostic procedure is complicated because VWD is highly heterogeneous, and differential diagnosis from platelet disorders may be challenging. Moreover, these defects may even coexist, impacting the bleeding phenotype. Mild and moderate VWD can be difficult to distinguish from the normal population, and VWD subtyping may also be problematic. This article summarizes the guidelines of the Nordic Haemophilia Council (NHC), which are intended to serve as a practical tool and provide the standards for diagnosing and treating VWD patients. The complete Nordic Guidelines on VWD are available at the NHC Web site (http://nordhemophilia.org).

KEYWORDS

von Willebrand disease - Nordic Haemophilia Council - Guidelines

Full Text

References

REFERENCES

1 von Willebrand EA. Hereditär pseudohemofili. Finsk Lakaresallsk Handl. 1926; 68 87-112
2 Sadler JE, Budde U, Eikenboom JC Working Party on von Willebrand Disease Classification et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006; 4 (10) 2103-2114
3 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 (4) 766-773
4 Bowman M, Mundell G, Grabell J et al.. Generation and validation of the condensed MCMDM-1VWD bleeding questionnaire for von Willebrand disease. J Thromb Haemost. 2008; 6 (12) 2062-2066
5 Mannucci PM. Desmopressin (DDAVP) in the treatment of bleeding disorders: the first twenty years. Haemophilia. 2000; 6 (Suppl 1) 60-67
6 Berntorp E, Önundarson PT. Prevalence of von Willebrand disease in the Nordic region. Haematologica Rep. 2005; 1 4-6
7 Favaloro EJ. An update on the von Willebrand factor collagen binding assay: 21 years of age and beyond adolescence but not yet a mature adult. Semin Thromb Hemost. 2007; 33 (8) 727-744
8 Baronciani L, Federici AB, Cozzi G, Canciani MT, Mannucci PM. von Willebrand factor collagen binding assay in von Willebrand disease type 2A, 2B, and 2M. J Thromb Haemost. 2006; 4 (9) 2088-2090
9 Goodeve A, Eikenboom J, Castaman G et al.. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood. 2007; 109 (1) 112-121
10 Lethagen S, Hillarp A, Ekholm C, Mattson E, Halldén C, Friberg B. Distribution of von Willebrand factor levels in young women with and without bleeding symptoms: influence of ABO blood group and promoter haplotypes. Thromb Haemost. 2008; 99 (6) 1013-1018
11 Onundarson PT, Gudmundsdottir BR, Arnfinnsdottir AV, Kjeld M, Olafsson O. von Willebrand factor does not vary during normal menstrual cycle. Thromb Haemost. 2001; 85 (1) 183-184
12 Sadler JE, Rodeghiero F. ISTH SSC Subcommittee on von Willebrand Factor . Provisional criteria for the diagnosis of VWD type 1. J Thromb Haemost. 2005; 3 (4) 775-777
13 Gudmundsdottir BR, Marder VJ, Onundarson PT. Risk of excessive bleeding associated with marginally low von Willebrand factor and mild platelet dysfunction. J Thromb Haemost. 2007; 5 (2) 274-281
14 Eikenboom J, Van Marion V, Putter H et al.. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost. 2006; 4 (4) 774-782
15 Sadler JE. Low von Willebrand factor: sometimes a risk factor and sometimes a disease. Hematology Am Soc Hematol Educ Program. 2009; 106-112
16 Favaloro EJ. Toward a new paradigm for the identification and functional characterization of von Willebrand disease. Semin Thromb Hemost. 2009; 35 (1) 60-75
17 Holmberg L, Dent JA, Schneppenheim R, Budde U, Ware J, Ruggeri ZM. von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. J Clin Invest. 1993; 91 (5) 2169-2177
18 Schneppenheim R, Federici AB, Budde U et al.. von Willebrand disease type 2M “Vicenza” in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. Thromb Haemost. 2000; 83 (1) 136-140
19 Mazurier C, Goudemand J, Hilbert L, Caron C, Fressinaud E, Meyer D. Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol. 2001; 14 (2) 337-347
20 Casonato A, Pontara E, Sartorello F et al.. Identifying carriers of type 2N von Willebrand disease: procedures and significance. Clin Appl Thromb Hemost. 2007; 13 (2) 194-200
21 Eikenboom JC. Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology. Best Pract Res Clin Haematol. 2001; 14 (2) 365-379
22 Castaman G, Rodeghiero F, Tosetto A et al.. Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study. J Thromb Haemost. 2006; 4 (10) 2164-2169
23 Favaloro EJ, Patterson D, Denholm A et al.. Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease (VWD) from type 2B VWD using a simplified ristocetin-induced-platelet-agglutination mixing assay and confirmed by genetic analysis. Br J Haematol. 2007; 139 (4) 623-626
24 Franchini M, Lippi G. Acquired von Willebrand syndrome: an update. Am J Hematol. 2007; 82 (5) 368-375
25 Federici AB, Budde U, Rand JH. Acquired von Willebrand syndrome 2004: International Registry—diagnosis and management from online to bedside. Hamostaseologie. 2004; 24 (1) 50-55
26 Lethagen S, Harris AS, Sjörin E, Nilsson IM. Intranasal and intravenous administration of desmopressin: effect on F VIII/vWF, pharmacokinetics and reproducibility. Thromb Haemost. 1987; 58 (4) 1033-1036
27 Lethagen S, Ragnarson Tennvall G. Self-treatment with desmopressin intranasal spray in patients with bleeding disorders: effect on bleeding symptoms and socioeconomic factors. Ann Hematol. 1993; 66 (5) 257-260
28 Castaman G, Lethagen S, Federici AB et al.. Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. Blood. 2008; 111 (7) 3531-3539
29 Smith TJ, Gill JC, Ambruso DR, Hathaway WE. Hyponatremia and seizures in young children given DDAVP. Am J Hematol. 1989; 31 (3) 199-202
30 Lethagen S, Kyrle PA, Castaman G, Haertel S, Mannucci PM. HAEMATE P Surgical Study Group . von Willebrand factor/factor VIII concentrate (Haemate P) dosing based on pharmacokinetics: a prospective multicenter trial in elective surgery. J Thromb Haemost. 2007; 5 (7) 1420-1430
31 Warkentin TE, Moore JC, Anand SS, Lonn EM, Morgan DG. Gastrointestinal bleeding, angiodysplasia, cardiovascular disease, and acquired von Willebrand syndrome. Transfus Med Rev. 2003; 17 (4) 272-286
32 Berntorp E, Petrini P. Long-term prophylaxis in von Willebrand disease. Blood Coagul Fibrinolysis. 2005; 16 (Suppl 1) S23-S26
33 Sucker C, Scharf RE, Zotz RB. Use of recombinant factor VIIa in inherited and acquired von Willebrand disease. Clin Appl Thromb Hemost. 2009; 15 (1) 27-31

Riitta LassilaM.D. Ph.D.

Unit of Coagulation Disorders

PoB 340, FI-00029HUS, Helsinki, Finland

Email: riitta.lassila@hus.fi