ABSTRACT
We have analyzed the databases for von Willebrand disease (VWD) from the hemophilia center for adult patients with bleeding disorders in South Australia. We define the prevalence of types of VWD to determine the proportion of who would be treated with factor (F) VIII/von Willebrand factor (VWF) concentrate to prevent or control hemorrhage. In severe or moderately severe patients, we use plasma-derived FVIII/VWF concentrate, and for mild to severe cases, we use desmopressin plus tranexamic acid. There are 103 patients with VWF ristocetin (RCo) ≤50 IU/dL: 38 (37%) severe (VWF:RCo <10 IU/dL), 28 (27%) moderate (VWF:RCo 10 to 29 IU/dL), and 37 (36%) mild (VWF:RCo 30 to 50 IU/dL). Hence in 66 (64%), FVIII/VWF concentrate is the mainstay of treatment. The prevalence of VWD in our region according to data from our center is ~1 per 12,000. A total of 52% of patients are type 1, 44% type 2, and 5% type 3. In our experience, type 2M (45% of type 2) is much more common than types 2A and 2B (each 9% of type 2). Mutation detection is useful for identifying some subtypes of VWD.
KEYWORDS
von Willebrand disorder - subtypes - severity - type 2M - mutations
REFERENCES
-
1
Rodgers S E, Lerda N V, Favaloro E J et al..
Identification of von Willebrand disease type 2N (Normandy) in Australia: a cross-laboratory investigation using different methods.
Am J Clin Pathol.
2002;
118
(2)
269-276
-
2
Federici A B.
Diagnosis of von Willebrand disease.
Haemophilia.
1998;
4
(4)
654-660
-
3
Federici A B.
Clinical diagnosis of von Willebrand disease.
Haemophilia.
2004;
10
(Suppl 4)
169-176
-
4
Favaloro E J.
Toward a new paradigm for the identification and functional characterization of von Willebrand disease.
Semin Thromb Hemost.
2009;
35
(1)
60-75
-
5
James P D, Notley C, Hegadorn C Association of Hemophilia Clinic Directors of Canada et al.
Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study.
J Thromb Haemost.
2007;
5
(9)
1914-1922
-
6
Favaloro E J, Grispo L, Dinale A, Berndt M, Koutts J.
von Willebrand's disease: laboratory investigation using an improved functional assay for von Willebrand factor.
Pathology.
1993;
25
(2)
152-158
-
7
Duncan E M, Duncan B M, Tunbridge L J, Lloyd J V.
Familial discrepancy between the one-stage and two-stage factor VIII methods in a subgroup of patients with haemophilia A.
Br J Haematol.
1994;
87
(4)
846-848
-
8
Rodgers S E, Duncan E M, Sobieraj-Teague M, Lloyd J V.
Evaluation of three automated chromogenic FVIII kits for the diagnosis of mild discrepant haemophilia A.
Int J Lab Hematol.
2009;
31
(2)
180-188
-
9
Kroner P A, Foster P A, Fahs S A, Montgomery R R.
The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor.
Blood.
1996;
87
(3)
1013-1021
-
10
Laffan M, Brown S A, Collins P W et al..
The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization.
Haemophilia.
2004;
10
(3)
199-217
-
11
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
-
12
James P D, Notley C, Hegadorn C et al..
The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study.
Blood.
2007;
109
(1)
145-154
-
13
Meyer D, Fressinaud E, Gaucher C INSERM Network on Molecular Abnormalities in von Willebrand Disease et al.
Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene.
Thromb Haemost.
1997;
78
(1)
451-456
-
14
Nitu-Whalley I C, Riddell A, Lee C A et al..
Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: a reappraisal using phenotypes, genotypes and molecular modelling.
Thromb Haemost.
2000;
84
(6)
998-1004
-
15
Sadler J E, Budde U, Eikenboom JCJ 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
-
16
Budde U, Schneppenheim R, Eikenboom J et al..
Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).
J Thromb Haemost.
2008;
6
(5)
762-771
-
17
Riddell A F, Jenkins P V, Nitu-Whalley I C, McCraw A H, Lee C A, Brown S A.
Use of the collagen-binding assay for von Willebrand factor in the analysis of type 2M von Willebrand disease: a comparison with the ristocetin cofactor assay.
Br J Haematol.
2002;
116
(1)
187-192
-
18
Federici A B, Mazurier C, Berntorp E et al..
Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study.
Blood.
2004;
103
(6)
2032-2038
-
19 ISTH-SSC VWF online database. Available at: http://www.vwf.group.shef.ac.uk Accessed November 29, 2010
-
20
Federici A B, Mannucci P M, Castaman G et al..
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.
Blood.
2009;
113
(3)
526-534
-
21
Miller J L, Cunningham D, Lyle V A, Finch C N.
Mutation in the gene encoding the α chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.
Proc Natl Acad Sci U S A.
1991;
88
(11)
4761-4765
-
22
Lester W A, Guilliatt A M, Surdhar G K et al..
Inherited and de novo von Willebrand disease ‘Vicenza” in UK families with the R1205H mutation: diagnostic pitfalls and new insights.
Br J Haematol.
2006;
135
(1)
91-96
Susan Elizabeth RodgersM.App.Sc.
Senior Medical Scientist, Division of Haematology, Institute of Medical and Veterinary Science
P.O. Box 14 Rundle Mall, Adelaide, South Australia 5000
Email: susan.rodgers@health.sa.gov.au
