Semin Thromb Hemost 2011; 37(5): 528-534
DOI: 10.1055/s-0031-1281039
© Thieme Medical Publishers

von Willebrand Disease in the United States: A Perspective from Wisconsin

Veronica H. Flood1 , 2 , Joan Cox Gill1 , 2 , 3 , Kenneth D. Friedman3 , Daniel B. Bellissimo3 , Sandra L. Haberichter3 , Robert R. Montgomery1 , 2 , 3
  • 1Division of Hematology/Oncology, Department of Pediatrics, Medical College of Wisconsin, Wisconsin
  • 2Children's Research Institute, Children's Hospital of Wisconsin, Wisconsin
  • 3Blood Research Institute, Blood Center of Wisconsin, at Milwaukee, Wisconsin
Further Information

Publication History

Publication Date:
18 November 2011 (online)

ABSTRACT

von Willebrand disease (VWD) is a common bleeding disorder with prevalence in the United States of 0.01 to 1% and a prevalence in the region around Milwaukee, Wisconsin, of at least 0.025%. Care of local patients with VWD primarily occurs through our comprehensive treatment centers, although some patients are managed solely by their primary care physician or community hematologist. Type 1 VWD is the most common subtype, with more females carrying this diagnosis than males. Diagnosis and treatment in general follows guidelines outlined by the National Institutes of Health. An ongoing study, the Zimmerman Program for the Molecular and Clinical Biology of VWD, is currently enrolling patients with all VWD subtypes across the United States to better delineate the extent of VWD and correlate bleeding symptoms with laboratory findings and VWF (von Willebrand factor) sequence variations. Results so far have shown that VWF gene polymorphisms are common, particularly in African Americans, and may affect laboratory assays of VWF function.

REFERENCES

  • 1 Werner E J, Broxson E H, Tucker E L, Giroux D S, Shults J, Abshire T C. Prevalence of von Willebrand disease in children: a multiethnic study.  J Pediatr. 1993;  123 (6) 893-898
  • 2 Sadler J E, Mannucci P M, Berntorp E et al.. Impact, diagnosis and treatment of von Willebrand disease.  Thromb Haemost. 2000;  84 (2) 160-174
  • 3 Weiss H J, Ball A P, Mannucci P M. Incidence of severe von Willebrand's disease.  N Engl J Med. 1982;  307 (2) 127
  • 4 Sadler J E, Budde U, Eikenboom J C 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
  • 5 Soucie J M, Cianfrini C, Janco R L et al.. Joint range-of-motion limitations among young males with hemophilia: prevalence and risk factors.  Blood. 2004;  103 (7) 2467-2473
  • 6 Centers for Disease Control and Prevention .Universal Data Collection Project. Available at: http://www.cdc.gov/ncbddd/blooddisorders/udc/index.html Accessed December 9, 2010
  • 7 O'Brien L A, James P D, Othman M Association of Hemophilia Clinic Directors of Canada et al. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.  Blood. 2003;  102 (2) 549-557
  • 8 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
  • 9 Flood V H, Gill J C, Morateck P A et al.. Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor.  Blood. 2010;  116 (2) 280-286
  • 10 Friedman K D, Bellissimo D B, Christopherson P A et al.. Fourteen percent of healthy African Americans participating in the Zimmerman Program for the Molecular and Clinical Biology of VWD (ZPMCB-VWD) are heterozygous for the VWF gene mutation H817Q associated with type 2N von Willebrand disease.  Blood. 2010;  116 (21) 239 (Abst)
  • 11 Nichols W L, Hultin M B, James A H et al.. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA).  Haemophilia. 2008;  14 (2) 171-232
  • 12 James A H, Manco-Johnson M J, Yawn B P, Dietrich J E, Nichols W L. von Willebrand disease: key points from the 2008 National Heart, Lung, and Blood Institute guidelines.  Obstet Gynecol. 2009;  114 (3) 674-678
  • 13 Gill J C, Endres-Brooks J, Bauer P J, Marks Jr W J, Montgomery R R. The effect of ABO blood group on the diagnosis of von Willebrand disease.  Blood. 1987;  69 (6) 1691-1695
  • 14 Adcock D M, Bethel M, Valcour A. Diagnosing von Willebrand disease: a large reference laboratory's perspective.  Semin Thromb Hemost. 2006;  32 (5) 472-479
  • 15 Favaloro E J. 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
  • 16 Ribba A S, Loisel I, Lavergne J M et al.. Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen.  Thromb Haemost. 2001;  86 (3) 848-854
  • 17 Riddell A F, Gomez K, Millar C M et al.. Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor.  Blood. 2009;  114 (16) 3489-3496
  • 18 Flood V H, Lederman C A, Wren J S et al.. Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.  J Thromb Haemost. 2010;  8 (6) 1431-1433
  • 19 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
  • 20 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
  • 21 Favaloro E J. Phenotypic identification of platelet-type von Willebrand disease and its discrimination from type 2B von Willebrand disease: a question of 2B or not 2B? A story of nonidentical twins? Or two sides of a multidenominational or multifaceted primary-hemostasis coin?.  Semin Thromb Hemost. 2008;  34 (1) 113-127
  • 22 Sadler J E, Ginsburg D. Consortium on von Willebrand Factor Mutations and Polymorphisms and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis . A database of polymorphisms in the von Willebrand factor gene and pseudogene.  Thromb Haemost. 1993;  69 (2) 185-191
  • 23 International Society on Thrombosis and Haemostasis Scientific and Standardization Committee .ISTH-SSC VWF Online Database. Available at: http://www.vwf.group.shef.ac.uk Accessed December 21, 2010
  • 24 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
  • 25 Haberichter S L, Balistreri M, Christopherson P et al.. Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.  Blood. 2006;  108 (10) 3344-3351
  • 26 Haberichter S L, Castaman G, Budde U et al.. Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).  Blood. 2008;  111 (10) 4979-4985
  • 27 Bailey A G, McNaull P P, Jooste E, Tuchman J B. Perioperative crystalloid and colloid fluid management in children: where are we and how did we get here?.  Anesth Analg. 2010;  110 (2) 375-390
  • 28 Jiménez-Yuste V, Prim M P, De Diego J I et al.. Otolaryngologic surgery in children with von Willebrand disease.  Arch Otolaryngol Head Neck Surg. 2002;  128 (12) 1365-1368
  • 29 Olowokure O, Fishman M, Cromwell C, Aledort L. DDAVP for von Willebrand menorrhagia—severe hyponatraemia, haemolysis, seizure, coma!! Caution.  Haemophilia. 2009;  15 (3) 837
  • 30 Berntorp E, Abshire T, Federici A B. Regular replacement therapy as prophylaxis in severe forms of von Willebrand disease: Initial results from the von Willebrand Disease Prophylaxis Network (VWD PN) Study Group.  Blood. 2010;  116 (21) 236 (Abst)
  • 31 Rivard G E, Aledort L. Alphanate Surgical Investigators . Efficacy of factor VIII/von Willebrand factor concentrate Alphanate in preventing excessive bleeding during surgery in subjects with von Willebrand disease.  Haemophilia. 2008;  14 (2) 271-275

Veronica H FloodM.D. 

Comprehensive Center for Bleeding Disorders, 8739 Watertown Plank Road

P.O. Box 2178, Milwaukee, WI 53201-2178

Email: vflood@mcw.edu