Doença de von Willebrand

Autores

  • Cristina João Interna de Hematologia Clínica do Instituto Português de Oncologia de Francisco Gentil, Lisboa

Palavras-chave:

factor de von Willebrand, doença de von Willebrand adquirida, pseudo doença de von Willebrand, glicoproteínas da membrana plaquetária, desmopressina, ristocetina

Resumo

A doença de von Willebrand é a doença congénita
da hemostase mais frequente na humanidade, quer
devido a alterações quantitativas do factor de von
Willebrand, quer a alterações qualitativas do mesmo.
Este trabalho apresenta uma revisão actualizada
da fisiopatologia e características clínicas desta
doença, bem como da sua classificação. São ainda
revistas a biosíntese, estrutura e funções do factor
de von Willebrand, o modo de realizar o seu
diagnóstico e as diversas opções terapêuticas são apresentadas.
O autor revê ainda a doença de von Willebran
adquirida e a pseudo-doença de von Willebrand

Downloads

Não há dados estatísticos.

Referências

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

Ficheiros Adicionais

Publicado

30-03-2001

Como Citar

1.
João C. Doença de von Willebrand. RPMI [Internet]. 30 de Março de 2001 [citado 18 de Dezembro de 2024];8(1):28-36. Disponível em: https://revista.spmi.pt/index.php/rpmi/article/view/1893

Edição

Secção

Artigos Originais

Artigos mais lidos do(s) mesmo(s) autor(es)