von Willebrand disease
Keywords:
von Willebrand factor, von Willebrand diasease, acquired von Willebrand disease, pseudo von Willebrand disease, platelet membrane glycoprotein, ristocetin, desmopressinAbstract
Quantitative and qualitative abnormalities of von
Willebrand factor (vWf) cause the most common
congenital bleeding disorders in humans – von
Willebrand disease (vWD). This review will provide
an update of the pathophysiological and clinical
features of this disease and will highlight the revised
classification of vWD. The variability of laboratory
findings in vWD is describe diagnosis of this
condition as well as the treatement options are
describe. An overview of the biosynthesis,
biochemical structure and binding functions of vWf is also given.
The author includes a review on acquired von
Willebrand disease and pseudo von Willebrand disease.
Downloads
References
Beutler et al. Williams Hematology, 5ª edição. Mc Graw Hill.
Rodeghiero F, Castman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand’s Disease. Blood 1987; 69(2):
-459.
Sadler JE, Gralnick HR: Commentary: A New Classification for von Willebrand Disease. Blood 84(3): 676-679, 1994.
Lee R, et al. Wintrobe’s Clinical Hematology 1999.
Perutelli P, Biglino P, Mori P. von Willebrand Factor: Biological Functions and Molecular Defects. Pediatric Hematology and Oncology 1997;14: 499-152.
Vlot AJ, Koppelman SJ, Meijers JCM, Damas C, van der Berg HM, Bouma BN, Sixma JJ, Willems GM. Kinetics of Factor VIII-von
Willebrand Factor Association. Blood 1996;87(5): 1809-1816.
Federici AB, Bader R, Pagani S, Colibretti ML, De Marco L, Mannucci M. Binding of von Willebrand factor to glycoproteins Ib and IIb/IIIa complex: affinity is related to multimeric size. Br J Haematol 1989;73: 93-99.
Tsai HM. Physiologic Cleavage of von Willebrand Factor by a Plasma Protease Is Dependent on Its Conformation and Requires
Calcium Ion. Blood 1996;87(10): 4235-4244.
Tsai HM, Sussman II, Nagel RL. Shear Stress Enhances the Proteolysis of von Willebrand Factor in Normal Plasma. Blood 1994;83(8): 2175-2179.
Furlas M, Robles R, Lamia B. Partial Purification and Characterization of a Protease from Human Plasma cleaving von Willebrand factor to Fragments Produced by in vivo Proteolysis. Blood 1996;87(10): 4223-4234.
Jenkins PV, Pasi KJ, Perkins SJ. Molecular Modeling of Ligand and Mutation Sites of the Type A Domains of Human von
Willebrand Factor and their Relevance to von Willebrand’s Disease. Blood 1998;91(6): 2032-2044.
Goto S, Salomon DR, Ikeda Y, Ruggeri ZM. Characterization of the Unique Mechanism Mediating the Shear-dependent Binding
of Soluble von Willebrand Factor to Platelets. J Biol Chem 1995;270: 23352-23361.
Lankhof H, Damas C, Schiphorst ME, Ijsseldijk MJW, Bracke M, Sixma JJ, Vink T, Groot PG. Functional Studies on Platelet Adhesion With Recombinant von Willebrand Factor Type 2B Mutants R543Q and R543W Under Conditions of Flow. Blood 1997;89(8): 2766-2772.
Rinder MR, Richard RE, Rinder HM. Acquired von Willebrand’s Disease: A Concise Review. Am J Hematol 1997;54: 139-145.
Ross JM, McIntire LV, Moake JL, Rand JH. Platelet adhesion and aggregation on human type VI collagen surfaces under physiological
flow conditions. Blood 1995;85(7): 1826-1835.
Jorieux S, Gaucher C, Goudemand J, Mazurier C. A Novel mutation in the D3 Domain of von Willebrand Factor Markedly Decreases
Its Ability to Bind factor VIII and Affects Its Multimerization. Blood 1998;92(12): 4663-4670.
Kadir RA, Economides DL, Sabin CA, Owens D, Lee CA. Frequency of inherited bleeding disorders in women with menorrhagia. Lancet
;351: 485-489.
Sandler JE. A revised classification of von Willebrand disease For the Subcommittee on von Willebrand factor of the Scientific and
Standardization Committee Society on Thrombosis and Haemostasis. Trom. Haemostasis 1994; 71: 520-525.
Moriki T, Murata M, Kitaguchi T, Anbo H, Handa M, Watanabe K, Takahashi H, Ikeda Y. Expression and Funtional Characteriration of na Abnormal Platelet Membrane Glycoprotein Iba (Met 239 ® Val) Reported in Patients With Platelet-Type von Willebrand Disease. Blood 1997;90(2): 698-705.
Abildgaard CF, Suzuki Z, Harrison J, Jefcoat K, Zimmerman TS. Serial Studies in von Willebrand’s Disease: Variability Versu
“Variants”. Blood 1980;56(4): 712-716.
Veyradier A, Fressinaud E, Meyer D. Laboratory diagnosis of von Willebrand disease. Int J Clin Lab Res1998 ; 28(4): 201-210.
Goodeve AC. Laboratory methods for the genetic diagnosis of bleeding disorders. Clin Lab Haematol 1998;20(1): 3-19 .
Mannucci PM. Desmopressin (DDAVP) in the Treatment of Bleeding Disorders: The First 20 Years. Blood 1997;90(7): 2515-
Hoffman et al. Hematology – Basic Principles and Practice. 3ª Edição. Churchill Livingston.
P. M. Mannucci et al: Treatment of von Willebrand’s Disease. J Intern Med Suppl 1997;740: 129-132.
Holmberg L, Nilsson IM, Borge L, Gunnarsson M, Sjorin E. Platelet Aggregation Induced By 5-Desamino-8-D-Arginine Vasopressin
(DDAVP) in von Willebrand’s Disease. N Engl J Med 1983;309: 816-821.
Castaman G, Lattuada A, Mannucci PM, Rodeghiero F. Factor VIII:C increases after desmopressin in a subgroup of patients with
recessive severe von Willebrand disease. Br J Haemtol 1995;89(5): 147-151 .
Tefferi A, Nichols WL. Acquired von Willebrand Disease: Concise Review of Ocurrence, Diagnosis, Pathogenesis, and Treatment.
Am J Med 1997;103: 536-540.
Genderen PJJ, Michiels JJ. Acquired von Willebrand disease. Bailière’s Clinical Haematology 1998;11(2): 319-330.
Simone JV, Cornet JA, Abildgaard CF. Adquired von Willebrand’s syndrome in Systemic Lupus Erythematous. Blood 1968;31: 806-
Mohri H, Motomura S, Kanamori H, Matsuzaki M, Watanabe SI, Maruta A, Kodama F, Okubo T. Clinical Significance of Inhibitors
in Acquired von Willebrand Syndrome. Blood 1998; 91(10): 3623-3629.
. Inbal A, Bank I, Zivelin A, Varon D, Dardik R, Shapiro R, Rosenthal E, Shenkman B. Acquired von Willebrand disease in a patient with
angiodysplasia resulting from immune-mediated clearance of von Willebrand factor. Br J Haematol 1997;96: 579-582.
Dalton RG, Savidge GF, Matthews KB, Dewar MS, Kernoff PB, Greaves M. Hypothyroidism as a cause of Adquired von Willebrand’s
Disease. The lancet 1987 ; 2: 1007-1009.
Scrobohaci ML, Daniel MT, Levy Y, Marolleau JP, Brouet JC. Expression of GpIb on plasma cells in a patient with monoclonal
IgG and acquired von Willebrand disease. Br J Haematol 1993;84: 471-475.
Rock G, Adamkiewicz T, Blanchette V, Pson A, Sparling C. Acquired von Willebrand factor deficiency during high-dose infusion of
recombinant factor VIII. Br J Haematol 1996; 93(3): 684-687.
Federici AB, Stabile F, Castaman G, Canciani MT, Mannucci PM. Treatment of Acquired von Willebrand Syndrome in Patients
With Monoclonal Gammapathy of Uncertain Significance: Comparison of Three Different Therapeutic Approaches. Blood
; 92(8): 2707-2711.
Alhumood SA, Devine DV, Lawson L, Nantel SH, Carter CJ. Idiopathic immune-mediated Acquired von Willebrand’s Disease
in a patient with angiodysplasia: demonstration of na unusual inhibitor causing a functional defect and a rapid clearence of von
Willebrand factor. Am J Hemat 1990; 60(2): 151-157
Additional Files
Published
How to Cite
Issue
Section
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2023 Medicina Interna
Open Access
