Monitoring Therapy during Treatment of von Willebrand Disease

Emmanuel J. Favaloro; Leonardo Pasalic; Jennifer Curnow

doi:10.1055/s-0036-1585080

Seminars in Thrombosis and Hemostasis, Inhaltsverzeichnis

Semin Thromb Hemost 2017; 43(03): 338-354
DOI: 10.1055/s-0036-1585080

Review Article

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Monitoring Therapy during Treatment of von Willebrand Disease

Emmanuel J. Favaloro

¹Sydney Centres for Thrombosis and Haemostasis, Departments of Clinical and Laboratory Haematology, Institute of Clinical Pathology and Medical Research and Westmead Hospital, Westmead, New South Wales Australia

²Pathology West, NSW Health Pathology, New South Wales, Australia

,

Leonardo Pasalic

¹Sydney Centres for Thrombosis and Haemostasis, Departments of Clinical and Laboratory Haematology, Institute of Clinical Pathology and Medical Research and Westmead Hospital, Westmead, New South Wales Australia

²Pathology West, NSW Health Pathology, New South Wales, Australia

,

Jennifer Curnow

¹Sydney Centres for Thrombosis and Haemostasis, Departments of Clinical and Laboratory Haematology, Institute of Clinical Pathology and Medical Research and Westmead Hospital, Westmead, New South Wales Australia

› Institutsangaben

Abstract

von Willebrand factor (VWF) is an adhesive plasma protein that primarily acts to bridge platelets to sites of vascular injury and thus prevent bleeding. von Willebrand disease (VWD) is the most common inherited bleeding disorder and is caused by deficiency and/or defects of VWF, leading to low levels of plasma VWF or dysfunctional VWF. Factor VIII (FVIII) is also reduced in many patients with VWD, since VWF stabilizes and protects FVIII from degradation. Treatment of VWD primarily entails replacement of VWF, and sometimes FVIII, to protect against bleeding. This may entail use of VWF/FVIII concentrates, and/or desmopressin (1-deamino-8-d-arginine vasopressin) to release endogenous VWF in some patients. Adjunct therapies include antifibrinolytics and hormonal therapies in women. Optimal treatment of VWD entails measuring the effects of treatment, either as a trial before surgery or during therapeutic management. This is usually accomplished by performance of the same tests that are used to help diagnose VWD, although additional monitoring (clinically and/or by laboratory testing) may also be performed. The current review provides an overview of the treatment of VWD but is primarily focused on the monitoring of such therapy.

Keywords

von Willebrand disease - VWD - diagnosis - management - factor concentrate - therapy - monitoring

Volltext

Referenzen

References
1 Sadler JE, Budde U, Eikenboom JC , 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
2 Nichols WL, Hultin MB, James AH , 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
3 Favaloro EJ. Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder. Semin Thromb Hemost 2011; 37 (5) 440-455
4 Franchini M, Lippi G, Favaloro EJ. Advances in hematology. Etiology and diagnosis of acquired von Willebrand syndrome. Clin Adv Hematol Oncol 2010; 8 (1) 20-24
5 Federici AB, Budde U, Castaman G, Rand JH, Tiede A. Current diagnostic and therapeutic approaches to patients with acquired von Willebrand syndrome: a 2013 update. Semin Thromb Hemost 2013; 39 (2) 191-201
6 Budde U, Bergmann F, Michiels JJ. Acquired von Willebrand syndrome: experience from 2 years in a single laboratory compared with data from the literature and an international registry. Semin Thromb Hemost 2002; 28 (2) 227-238
7 Yee A, Kretz CA. Von Willebrand factor: form for function. Semin Thromb Hemost 2014; 40 (1) 17-27
8 Peyvandi F, Garagiola I, Baronciani L. Role of von Willebrand factor in the haemostasis. Blood Transfus 2011; 9 (Suppl. 02) s3-s8
9 Jaffe EA, Hoyer LW, Nachman RL. Synthesis of von Willebrand factor by cultured human endothelial cells. Proc Natl Acad Sci U S A 1974; 71 (5) 1906-1909
10 Sporn LA, Chavin SI, Marder VJ, Wagner DD. Biosynthesis of von Willebrand protein by human megakaryocytes. J Clin Invest 1985; 76 (3) 1102-1106
11 Favaloro EJ. Recent advances in laboratory-aided diagnosis of von Willebrand disease. Expert Opinion on Orphan Drugs 2015; 3 (9) 1-21
12 Favaloro EJ, Franchini M, Lippi G. Biological therapies for von Willebrand disease. Expert Opin Biol Ther 2012; 12 (5) 551-564
13 Favaloro EJ. Diagnosing von Willebrand disease: a short history of laboratory milestones and innovations, plus current status, challenges, and solutions. Semin Thromb Hemost 2014; 40 (5) 551-570
14 Ng C, Motto DG, Di Paola J. Diagnostic approach to von Willebrand disease. Blood 2015; 125 (13) 2029-2037
15 Lillicrap D. von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy. Hematology (Am Soc Hematol Educ Program) 2013; 2013 (23) 254-260
16 Favaloro EJ, Bodó I, Israels SJ, Brown SA. von Willebrand disease and platelet disorders. Haemophilia 2014; 20 (Suppl. 04) 59-64
17 Flood VH. Perils, problems, and progress in laboratory diagnosis of von Willebrand disease. Semin Thromb Hemost 2014; 40 (1) 41-48
18 Curnow J, Pasalic L, Favaloro EJ. Treatment of von Willebrand disease. Semin Thromb Hemost 2016; 42 (2) 133-146
19 Lenting PJ, Denis CV, Wohner N. Von Willebrand factor and thrombosis: risk factor, actor and pharmacological target. Curr Vasc Pharmacol 2013; 11 (4) 448-456
20 Mannucci PM. Venous thromboembolism in von Willebrand disease. Thromb Haemost 2002; 88 (3) 378-379
21 Riedl M, Orth-Höller D, Würzner R. An update on the thrombotic microangiopathies hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP). Semin Thromb Hemost 2014; 40 (4) 413-415
22 Hassenpflug WA, Budde U, Schneppenheim S, Schneppenheim R. Inherited thrombotic thrombocytopenic purpura in children. Semin Thromb Hemost 2014; 40 (4) 487-492
23 Knöbl P. Inherited and acquired thrombotic thrombocytopenic purpura (TTP) in adults. Semin Thromb Hemost 2014; 40 (4) 493-502
24 Wada H, Matsumoto T, Yamashita Y. Natural history of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. Semin Thromb Hemost 2014; 40 (8) 866-873
25 Eerenberg ES, Levi M. The potential therapeutic benefit of targeting ADAMTS13 activity. Semin Thromb Hemost 2014; 40 (1) 28-33
26 Chapman K, Yuen S. Therapy for thrombotic thrombocytopenia purpura: past, present, and future. Semin Thromb Hemost 2014; 40 (1) 34-40
27 Coppola A, Franchini M, Makris M, Santagostino E, Di Minno G, Mannucci PM. Thrombotic adverse events to coagulation factor concentrates for treatment of patients with haemophilia and von Willebrand disease: a systematic review of prospective studies. Haemophilia 2012; 18 (3) e173-e187
28 Rodeghiero F. Von Willebrand disease: pathogenesis and management. Thromb Res 2013; 131 (Suppl. 01) S47-S50
29 Tosetto A, Castaman G. How I treat type 2 variant forms of von Willebrand disease. Blood 2015; 125 (6) 907-914
30 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
31 Favaloro EJ, Kershaw G, Bukuya M, Hertzberg M, Koutts J. Laboratory diagnosis of von Willebrand disorder (vWD) and monitoring of DDAVP therapy: efficacy of the PFA-100 and vWF:CBA as combined diagnostic strategies. Haemophilia 2001; 7 (2) 180-189
32 Favaloro EJ. Rethinking the diagnosis of von Willebrand disease. Thromb Res 2011; 127 (Suppl. 02) S17-S21
33 Brooker M. Registry of Clotting Factor Concentrates. 9 ed. World Federation of Hemophilia (WFH); 2012. Available at: http://www.wfh.org/en/page.aspx?pid=1270 . Accessed December 24, 2014
34 Batlle J, López-Fernández MF, Fraga EL, Trillo AR, Pérez-Rodríguez MA. Von Willebrand factor/factor VIII concentrates in the treatment of von Willebrand disease. Blood Coagul Fibrinolysis 2009; 20 (2) 89-100
35 Budde U, Metzner HJ, Müller HG. Comparative analysis and classification of von Willebrand factor/factor VIII concentrates: impact on treatment of patients with von Willebrand disease. Semin Thromb Hemost 2006; 32 (6) 626-635
36 Favaloro EJ, Bukuya M, Martinelli T , et al. A comparative multi-laboratory assessment of three factor VIII/von Willebrand factor concentrates. Thromb Haemost 2002; 87 (3) 466-476
37 Goudemand J, Scharrer I, Berntorp E , et al. Pharmacokinetic studies on Wilfactin, a von Willebrand factor concentrate with a low factor VIII content treated with three virus-inactivation/removal methods. J Thromb Haemost 2005; 3 (10) 2219-2227
38 Stadler M, Gruber G, Kannicht C , et al. Characterisation of a novel high-purity, double virus inactivated von Willebrand factor and factor VIII concentrate (Wilate). Biologicals 2006; 34 (4) 281-288
39 Lethagen S, Carlson M, Hillarp A. A comparative in vitro evaluation of six von Willebrand factor concentrates. Haemophilia 2004; 10 (3) 243-249
40 Lawrie AS, Harrison P, Armstrong AL, Wilbourn BR, Dalton RG, Savidge GF. Comparison of the in vitro characteristics of von Willebrand factor in British and commercial factor VIII concentrates. Br J Haematol 1989; 73 (1) 100-104
41 Mannucci PM, Chediak J, Hanna W , et al; Alphanate Study Group. Treatment of von Willebrand disease with a high-purity factor VIII/von Willebrand factor concentrate: a prospective, multicenter study. Blood 2002; 99 (2) 450-456
42 Federici AB, Baudo F, Caracciolo C , et al. Clinical efficacy of highly purified, doubly virus-inactivated factor VIII/von Willebrand factor concentrate (Fanhdi) in the treatment of von Willebrand disease: a retrospective clinical study. Haemophilia 2002; 8 (6) 761-767
43 Laffan MA, Lester W, O'Donnell JS , et al. The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology. Br J Haematol 2014; 167 (4) 453-465
44 de Wee EM, Leebeek FWG, Eikenboom JCJ. Diagnosis and management of von Willebrand disease in The Netherlands. Semin Thromb Hemost 2011; 37 (5) 480-487
45 Mannucci PM, Franchini M. The use of plasma-derived concentrates. In: Federici AB, Lee CA, Berntorp EE, Lillicrap D, Montgomery RR, eds. Von Willebrand Disease. 2nd ed. West Sussex, UK: Blackwell Publishing Ltd; 2010
46 Dunkley S, Baker RI, Pidcock M , et al. Clinical efficacy and safety of the factor VIII/von Willebrand factor concentrate BIOSTATE in patients with von Willebrand's disease: a prospective multi-centre study. Haemophilia 2010; 16 (4) 615-624
47 Favaloro EJ. Towards personalised therapy for von Willebrand disease: a future role for recombinant products. Blood Transfus 2016; 1-15
48 Mannucci PM, Kempton C, Millar C , et al; rVWF Ad Hoc Study Group. Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial. Blood 2013; 122 (5) 648-657
49 Gill JC, Castaman G, Windyga J , et al. Hemostatic efficacy, safety, and pharmacokinetics of a recombinant von Willebrand factor in severe von Willebrand disease. Blood 2015; 126 (17) 2038-2046
50 Favaloro EJ. Clinical utility of the PFA-100. Semin Thromb Hemost 2008; 34 (8) 709-733
51 Shankar M, Lee CA, Sabin CA, Economides DL, Kadir RA. von Willebrand disease in women with menorrhagia: a systematic review. BJOG 2004; 111 (7) 734-740
52 Ragni MV, Bontempo FA, Hassett AC. von Willebrand disease and bleeding in women. Haemophilia 1999; 5 (5) 313-317
53 Lee CA, Chi C, Pavord SR , et al; UK Haemophilia Centre Doctors' Organization. The obstetric and gynaecological management of women with inherited bleeding disorders—review with guidelines produced by a taskforce of UK Haemophilia Centre Doctors' Organization. Haemophilia 2006; 12 (4) 301-336
54 Higham JM, O'Brien PM, Shaw RW. Assessment of menstrual blood loss using a pictorial chart. Br J Obstet Gynaecol 1990; 97 (8) 734-739
55 Dockeray CJ, Sheppard BL, Daly L, Bonnar J. The fibrinolytic enzyme system in normal menstruation and excessive uterine bleeding and the effect of tranexamic acid. Eur J Obstet Gynecol Reprod Biol 1987; 24 (4) 309-318
56 Rybo G. Tranexamic acid therapy: effective treatment in heavy menstrual bleeding: clinical update on safety. Therapeutic Adv 1991; 4: 1-8
57 Rick ME, Williams SB, Sacher RA, McKeown LP. Thrombocytopenia associated with pregnancy in a patient with type IIB von Willebrand's disease. Blood 1987; 69 (3) 786-789
58 Caliezi C, Tsakiris DA, Behringer H, Kühne T, Marbet GA. Two consecutive pregnancies and deliveries in a patient with von Willebrand's disease type 3. Haemophilia 1998; 4 (6) 845-849
59 Walker ID, Walker JJ, Colvin BT, Letsky EA, Rivers R, Stevens R. Investigation and management of haemorrhagic disorders in pregnancy. Haemostasis and Thrombosis Task Force. J Clin Pathol 1994; 47 (2) 100-108
60 Conti M, Mari D, Conti E, Muggiasca ML, Mannucci PM. Pregnancy in women with different types of von Willebrand disease. Obstet Gynecol 1986; 68 (2) 282-285
61 Ramsahoye BH, Davies SV, Dasani H , et al. Obstetric management in von Willebrand's disease: a report of 24 pregnancies and a review of the literature. Haemophilia 1995; 1: 140-144
62 Makris M, Federici AB, Mannucci PM , et al. The natural history of occult or angiodysplastic gastrointestinal bleeding in von Willebrand disease. Haemophilia 2015; 21 (3) 338-342
63 Boey JP, Hahn U, Sagheer S, McRae SJ. Thalidomide in angiodysplasia-related bleeding. Intern Med J 2015; 45 (9) 972-976
64 Berntorp E, Andersson NG. Prophylaxis for hemophilia in the era of extended half-life FVIII/FIX products. Semin Thromb Hemost 2016; 42 (5) 518-525
65 Saccullo GMD, Makris M. Prophylaxis in von Willebrand disease: coming of age?. Semin Thromb Hemost 2016; 42 (5) 498-506
66 Berntorp E. Prophylaxis in von Willebrand disease. Haemophilia 2008; 14 (Suppl. 05) 47-53
67 Abshire TC, Federici AB, Alvárez MT , et al; VWD PN. Prophylaxis in severe forms of von Willebrand's disease: results from the von Willebrand Disease Prophylaxis Network (VWD PN). Haemophilia 2013; 19 (1) 76-81
68 Halimeh S, Krümpel A, Rott H , et al. Long-term secondary prophylaxis in children, adolescents and young adults with von Willebrand disease. Results of a cohort study. Thromb Haemost 2011; 105 (4) 597-604
69 Castillo R, Monteagudo J, Escolar G, Ordinas A, Magallón M, Martín Villar J. Hemostatic effect of normal platelet transfusion in severe von Willebrand disease patients. Blood 1991; 77 (9) 1901-1905
70 Favaloro EJ, Posen J, Ramakrishna R , et al. Factor V inhibitors: rare or not so uncommon? A multi-laboratory investigation. Blood Coagul Fibrinolysis 2004; 15 (8) 637-647
71 Federici AB, Rand JH, Bucciarelli P , et al; Subcommittee on von Willebrand Factor. Acquired von Willebrand syndrome: data from an international registry. Thromb Haemost 2000; 84 (2) 345-349
72 Friederich PW, Wever PC, Briët E, Doorenbos CJ, Levi M. Successful treatment with recombinant factor VIIa of therapy-resistant severe bleeding in a patient with acquired von Willebrand disease. Am J Hematol 2001; 66 (4) 292-294
73 Sadler JE. Aortic stenosis, von Willebrand factor, and bleeding. N Engl J Med 2003; 349 (4) 323-325
74 Vincentelli A, Susen S, Le Tourneau T , et al. Acquired von Willebrand syndrome in aortic stenosis. N Engl J Med 2003; 349 (4) 343-349
75 Favaloro EJ, Bukuya M, Martinelli T , et al. A comparative multilaboratory assessment of three factor VIII/von Willebrand factor concentrates. Thromb Haemost 2002; 87 (3) 466-476
76 FDA announcement on recombinant VWF. Available at: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm476065.htm . Accessed March, 18, 2016
77 Manufacturer announcement on recombinant VWF. Available at: http://www.vonvendi.com/ . Accessed March 18, 2016
78 Ragni MV, Jankowitz RC, Chapman HL , et al. A phase II prospective open-label escalating dose trial of recombinant interleukin-11 in mild von Willebrand disease. Haemophilia 2008; 14 (5) 968-977
79 Ragni MV, Jankowitz RC, Jaworski K, Merricks EP, Kloos MT, Nichols TC. Phase II prospective open-label trial of recombinant interleukin-11 in women with mild von Willebrand disease and refractory menorrhagia. Thromb Haemost 2011; 106 (4) 641-645
80 Ragni MV, Novelli EM, Murshed A, Merricks EP, Kloos MT, Nichols TC. Phase II prospective open-label trial of recombinant interleukin-11 in desmopressin-unresponsive von Willebrand disease and mild or moderate haemophilia A. Thromb Haemost 2013; 109 (2) 248-254
81 Pergolizzi RG, Jin G, Chan D , et al. Correction of a murine model of von Willebrand disease by gene transfer. Blood 2006; 108 (3) 862-869
82 De Meyer SF, Vandeputte N, Pareyn I , et al. Restoration of plasma von Willebrand factor deficiency is sufficient to correct thrombus formation after gene therapy for severe von Willebrand disease. Arterioscler Thromb Vasc Biol 2008; 28 (9) 1621-1626
83 Marx I, Lenting PJ, Adler T, Pendu R, Christophe OD, Denis CV. Correction of bleeding symptoms in von Willebrand factor-deficient mice by liver-expressed von Willebrand factor mutants. Arterioscler Thromb Vasc Biol 2008; 28 (3) 419-424
84 Favaloro EJ, Lloyd J, Rowell J , et al. Comparison of the pharmacokinetics of two von Willebrand factor concentrates [Biostate and AHF (High Purity)] in people with von Willebrand disorder. A randomised cross-over, multi-centre study. Thromb Haemost 2007; 97 (6) 922-930