Tom 11, Nr 2 (2018)
Artykuł przeglądowy
Opublikowany online: 2018-09-07
Wyświetlenia strony
520
Wyświetlenia/pobrania artykułu
914
Choroba von Willebranda typu 2N — epidemiologia, diagnostyka fenotypowo-molekularna
Journal of Transfusion Medicine 2018;11(2):52-62.
Streszczenie
Choroba von Willebranda (VWD) typu 2N jest to skaza krwotoczna, która dziedziczy się autosomalnie recesywnie i jest klinicznie podobna do łagodnej hemofilii A. W typie 2N VWD zmniejszone powinowactwo czynnika von Willebranda (VWF) do czynnika VIII (FVIII) jest spowodowane mutacjami w miejscu wiązania FVIII lub zmianami konformacyjnymi cząsteczki VWF, upośledzającymi interakcję VWF-FVIII. Laboratoryjnie typ 2N VWD charakteryzuje się nieproporcjonalnie obniżonym FVIII do antygenu VWF i w efekcie zredukowanym ilorazem FVIII/VWF:Ag. U większości pacjentów z 2N VWD stężenie i struktura multimetrów VWF są prawidłowe. Rozpoznanie VWD 2N opiera się głównie na oznaczeniu obniżonego wiązania FVIII do VWF lub zidentyfikowaniu mutacji sprawczych w domenie genu VWF, odpowiedzialnej za wiązanie FVIII. Typ 2N VWD powinien być zawsze brany pod uwagę u pacjentów z niskim stężeniem FVIII.
Słowa kluczowe: choroba von Willebranda typu 2Npatofizjologiapodłoże genetycznediagnostyka fenotypowa i laboratoryjna
Referencje
- Von Willebrand E.A. Hereditar pseudohemophili. Finska Lakarselskapets Handlingar 1926; 57: 87–112.
- Nilsson IM. The history of von Willebrand disease. Haemophilia. 1999; 5 Suppl 2: 7–11.
- Keeney S, Cumming AM. The molecular biology of von Willebrand disease. Clin Lab Haematol. 2001; 23(4): 209–230.
- Szántó T, Joutsi-Korhonen L, Deckmyn H, et al. New insights into von Willebrand disease and platelet function. Semin Thromb Hemost. 2012; 38(1): 55–63.
- Ruggeri ZM, Zarpellon A, Roberts JR, et al. Working Party on von Willebrand Disease Classification. Structure and function of von Willebrand factor. Thromb Haemost. 1999; 82(2): 576–584.
- Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood. 1987; 69(2): 454–459.
- Zimmerman TS, Ratnoff OD, Powell AE. Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's dissase, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor. J Clin Invest. 1971; 50(1): 244–254.
- Ginsburg D, Handin RI, Bonthron DT, et al. Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization. Science. 1985; 228(4706): 1401–1406.
- Lynch DC, Zimmerman TS, Collins CJ, et al. Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method. Cell. 1985; 41(1): 49–56.
- Sadler JE, Shelton-Inloes BB, Sorace JM, et al. Cloning and characterization of two cDNAs coding for human von Willebrand factor. Proc Natl Acad Sci U S A. 1985; 82(19): 6394–6398.
- Verweij CL, de Vries CJ, Distel B, et al. Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene. Nucleic Acids Res. 1985; 13(13): 4699–4717.
- Schneppenheim R, Budde U. von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein. J Thromb Haemost. 2011; 9 Suppl 1: 209–215.
- Sadler JE. Biochemistry and genetics of von Willebrand factor. Annu Rev Biochem. 1998; 67: 395–424.
- Holmberg L, Nilsson IM, Holmberg L, et al. Genetic variants of von Willebrand's disease. Br Med J. 1972; 3(5822): 317–320.
- Goodeve AC. The genetic basis of von Willebrand disease. Blood Rev. 2010; 24(3): 123–134.
- Goodeve A. Diagnosing von Willebrand disease: genetic analysis. Hematology Am Soc Hematol Educ Program. 2016; 2016(1): 678–682.
- Sadler JEA. revised classification of von Willebrand disease. For the Subcommittee on von Willebrand factor of the Scientific and Standarization Committee of the International Society on osis and asis. Thromb Haemost. 1994; 71: 520–525.
- Sadler JE, Budde U, Eikenboom JCJ, et al. Working Party on von Willebrand Disease Classification. 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.
- Mancuso DJ, Tuley EA, Westfield LA, et al. Structure of the gene for human von Willebrand factor. J Biol Chem. 1989; 264(33): 19514–19527.
- Mancuso DJ, Tuley EA, Westfield LA, et al. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry. 1991; 30(1): 253–269.
- Reininger AJ. Function of von Willebrand factor in haemostasis and thrombosis. Haemophilia. 2008; 14 Suppl 5: 11–26.
- Stockschlaeder M, Schneppenheim R, Budde U. Update on von Willebrand factor multimers: focus on high-molecular-weight multimers and their role in hemostasis. Blood Coagul Fibrinolysis. 2014; 25(3): 206–216.
- Fay PJ. Factor VIII structure and function. Int J Hematol. 2006; 83(2): 103–108.
- Fay PJ. Activation of factor VIII and mechanisms of cofactor action. Blood Rev. 2004; 18(1): 1–15.
- Koedam JA, Meijers JC, Sixma JJ, et al. Inactivation of human factor VIII by activated protein C. Cofactor activity of protein S and protective effect of von Willebrand factor. J Clin Invest. 1988; 82(4): 1236–1243.
- Koedam JA, Hamer RJ, Beeser-Visser NH, et al. The effect of von Willebrand factor on activation of factor VIII by factor Xa. Eur J Biochem. 1990; 189(2): 229–234.
- Lenting PJ, van Mourik JA, Mertens K. The life cycle of coagulation factor VIII in view of its structure and function. Blood. 1998; 92(11): 3983–3996.
- Terraube V, O'Donnell JS, Jenkins PV. Factor VIII and von Willebrand factor interaction: biological, clinical and therapeutic importance. Haemophilia. 2010; 16(1): 3–13.
- Shiltagh N, Kirkpatrick J, Cabrita LD, et al. Solution structure of the major factor VIII binding region on von Willebrand factor. Blood. 2014; 123(26): 4143–4151.
- van Meegeren MER, Mancini TL, Schoormans SCM, et al. Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype. Haemophilia. 2015; 21(5): e375–e383.
- Mazurier C, Dieval J, Jorieux S, et al. A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction. Blood. 1990; 75(1): 20–26.
- Mazurier C, Gaucher C, Jorieux S, et al. Evidence for a von Willebrand factor defect in factor VIII binding in three members of a family previously misdiagnosed mild haemophilia A and haemophilia A carriers: consequences for therapy and genetic counselling. Br J Haematol. 1990; 76(3): 372–379.
- Nishino M, Girma JP, Rothschild C, et al. New variant of von Willebrand disease with defective binding to factor VIII. Blood. 1989; 74(5): 1591–1599.
- Casonato A, Pontara E, Sartorello F, et al. Interaction of factor VIII and von Willebrand factor investigated in a large cohort of von Willebrand disease patients: evaluation of type 2N prevalence. J. Thromb. Haemost. 2003; 1: 0093 (ab).
- Casonato A, Daidone V, Barbon G, et al. A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy. Haematologica. 2013; 98(1): 147–152.
- Mazurier C, Goudemand J, Hilbert L, et al. Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol. 2001; 14(2): 337–347.
- Casonato A, Galletta E, Sarolo L, et al. Type 2N von Willebrand disease: Characterization and diagnostic difficulties. Haemophilia. 2018; 24(1): 134–140.
- Koppelman SJ, van Hoeij M, Vink T, et al. The affinity and stoichiometry of binding of human factor VIII to von Willebrand factor. Blood. 1995; 85(11): 3150–3157.
- Schneppenheim R, Budde U, Krey S, et al. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1. Thromb Haemost. 1996; 76(4): 598–602.
- Qin HH, Xing ZF, Wang XF, et al. Similarity in joint and mucous bleeding syndromes in type 2N von Willebrand disease and severe hemophilia A coexisting with type 1 von Willebrand disease in two Chinese pedigrees. Blood Cells Mol Dis. 2014; 52(4): 181–185.
- Allan JN, Friedman KD, DeSancho MT. Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N. Int J Hematol. 2014; 100(6): 602–606.
- Laffan M, Brown SA, Collins PW, et al. The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization. Haemophilia. 2004; 10(3): 199–217.
- Tuley EA, Gaucher C, Jorieux S, et al. Expression of von Willebrand factor "Normandy": an autosomal mutation that mimics hemophilia A. Proc Natl Acad Sci U S A. 1991; 88(14): 6377–6381.
- Michiels JJ, Gadisseur A, Vangenegten I, et al. Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1. Acta Haematol. 2009; 121(2-3): 119–127.
- Casonato A, Sartorello F, Cattini MG, et al. An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant. Blood. 2003; 101(1): 151–156.
- 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.
- Jorieux S, Gaucher C, Goudemand J, et al. 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.
- Meyer D, Fressinaud E, Gaucher C, et al. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease. Thromb Haemost. 1997; 78(1): 451–456.
- Caron C, Goudemand J. Type 2N von Willebrand disease: clinical, therapeutical and laboratory aspects. Von Willebrand Disease. Clinical and Laboratory Aspects. 2012; 2: 12–15.
- Veyradier A, Boisseau P, Fressinaud E, et al. French Reference Center for von Willebrand disease. A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture. Medicine (Baltimore). 2016; 95(11): e3038.
- Fidalgo T, Salvado R, Corrales I, et al. Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS. Thromb Haemost. 2016; 116(1): 17–31.
- Hilbert L, Nurden P, Caron C, et al. INSERM Network on Molecular Abnormalities in von Willebrand Disease. Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide. Thromb Haemost. 2006; 96(3): 290–294.
- Schneppenheim R, Lenk H, Obser T, et al. Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization. Thromb Haemost. 2004; 92(1): 36–41.
- Allen S, Abuzenadah AM, Blagg JL, et al. Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. Blood. 2000; 95(6): 2000–2007.
- Pontara E, Gresele P, Cattini MG, et al. Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. Blood Coagul Fibrinolysis. 2014; 25(4): 401–404.
- Casonato A, Pontara E, Sartorello F, et al. Combined hemophilia A and type 2 von Willebrand's disease: defect of both factor VIII level and factor VIII binding capacity of von Willebrand factor. Haematologica. 2001; 86(10): 1110–1111.
- Castaman G, Bertoncello K, Bernardi M, et al. Pregnancy and delivery in patients with homozygous or heterozygous R854Q type 2N von Willebrand disease. J Thromb Haemost. 2005; 3(2): 391–392.
- Dennis MW, Clough V, Toh CH. Unexpected presentation of type 2N von Willebrand disease in pregnancy. Haemophilia. 2000; 6(6): 696–697.
- de Jong A, Eikenboom J. Von Willebrand disease mutation spectrum and associated mutation mechanisms. Thromb Res. 2017; 159: 65–75.
- Hampshire DJ, Goodeve AC. The international society on thrombosis and haematosis von Willebrand disease database: an update. Semin Thromb Hemost. 2011; 37(5): 470–479.
- Mazurier C, Meyer D. Factor VIII binding assay of von Willebrand factor and the diagnosis of type 2N von Willebrand disease--results of an international survey. On behalf of the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the ISTH. Thromb Haemost. 1996; 76(2): 270–274.
- Federici AB, Bucciarelli P, Castaman G, et al. Management of inherited von Willebrand disease in Italy: results from the retrospective study on 1234 patients. Semin Thromb Hemost. 2011; 37(5): 511–521.
- Favaloro EJ, Mohammed S, Koutts J. Identification and prevalence of von Willebrand disease type 2N (Normandy) in Australia. Blood Coagul Fibrinolysis. 2009; 20(8): 706–714.
- Ghosh K, Trasi S, Shetty S, et al. Use of a new enzyme-linked immunosorbent assay for the detection of type 2N von Willebrand disease and its prevalence in an Indian population. Blood Coagul Fibrinolysis. 2006; 17(1): 7–11.
- Morales-De la Vega A, Reyes-Maldonado E, Martínez-Murillo C, et al. [Type 2N von Willebrand disease (Normandy)]. Rev Med Inst Mex Seguro Soc. 2008; 46(1): 55–62.
- Bykowska K. Klasyfikacja i diagnostyka choroby von Willebranda. 2013; 4: 24–34.
- Casonato A, Pontara E, Zerbinati P, et al. The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: significance and practical implications. Am J Clin Pathol. 1998; 109(3): 347–352.
- Caron C, Mazurier C, Goudemand J. Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents. Br J Haematol. 2002; 117(3): 716–718.
- Veyradier A, Caron C, Ternisien C, et al. Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis. Haemophilia. 2011; 17(6): 944–951.
- Favaloro EJ. Laboratory identification of von Willebrand disease: technical and scientific perspectives. Semin Thromb Hemost. 2006; 32(5): 456–471.
- Favaloro EJ, Lillicrap D, Lazzari MA, et al. von Willebrand disease: laboratory aspects of diagnosis and treatment. Haemophilia. 2004; 10 Suppl 4: 164–168.
- Mannucci PM, Ruggeri ZM, Pareti FI, et al. 1-Deamino-8-d-arginine vasopressin: a new pharmacological approach to the management of haemophilia and von Willebrands' diseases. Lancet. 1977; 1(8017): 869–872.
- Rodeghiero F, Castaman G, Mannucci PM. Clinical indications for desmopressin (DDAVP) in congenital and acquired von Willebrand disease. Blood Rev. 1991; 5(3): 155–161.
- Federici AB. The use of desmopressin in von Willebrand disease: the experience of the first 30 years (1977-2007). Haemophilia. 2008; 14 Suppl 1: 5–14.
- Federici AB, 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.
