Hemophilia A in the third millennium

Blood Reviews

Volumn 27, Issue 4, 2013, Pages 179-184

  Franchini, Massimo ^a   Mannucci, Pier Mannuccio ^b  

^a CARLO POMA HOSPITAL   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Bleeding; Desmopressin; Factor VIII concentrates; Hemophilia A; Inhibitor; Therapy

Indexed keywords

ACTIVATED PROTHROMBIN COMPLEX; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 ANTIBODY; BLOOD CLOTTING FACTOR 8 CONCENTRATE; BLOOD CLOTTING FACTOR 8 PLUS VON WILLEBRAND FACTOR; DESMOPRESSIN; FANHDI; RECOMBINANT BLOOD CLOTTING FACTOR 7A; RECOMBINANT BLOOD CLOTTING FACTOR 8; UNCLASSIFIED DRUG;

AGING; ARTICLE; BLEEDING; CLINICAL FEATURE; DISEASE SEVERITY; DRUG EFFICACY; DRUG MEGADOSE; DRUG SAFETY; HEMOPHILIA A; HUMAN; JOINT INJURY; LIFE EXPECTANCY; NONHUMAN; PATHOGENESIS; PRIMARY PREVENTION; PRIORITY JOURNAL; QUALITY OF LIFE; RECOMMENDED DRUG DOSE; REPEATED DRUG DOSE; SECONDARY PREVENTION; SIDE EFFECT; SUBSTITUTION THERAPY; TREATMENT DURATION;

BLEEDING; DESMOPRESSIN; FACTOR VIII CONCENTRATES; HEMOPHILIA A; INHIBITOR; THERAPY;

DISEASE MANAGEMENT; HEMOPHILIA A; HUMANS;

EID: 84881375354     PISSN: 0268960X     EISSN: 15321681     Source Type: Journal    
DOI: 10.1016/j.blre.2013.06.002     Document Type: Article

References (85)

1. Mannucci P.M., Tuddenham E.G.D. The hemophilias - from royal genes to gene therapy. N Engl J Med 2001, 344:1773-1779.
2. Bolton-Maggs P.H., Pasi K.J. Hemophilias A and B. Lancet 2003, 361:1801-1809.
3. Hoyer L.H., Hemophilia A. N Engl J Med 1994, 330:38-47.
4. Berntorp E., Shapiro A.D. Modern haemophilia care. Lancet 2012, 379:1447-1456.
5. Kulkarni R., Soucie J.M. Pediatric hemophilia: a review. Semin Thromb Hemost 2011, 37:737-744.
6. Thompson A.E. Structure and function of the FVIII gene and protein. Semin Thromb Hemost 2003, 29:11-22.
7. Oldenburg J., Schwaab R. Molecular biology of blood coagulation. Semin Thromb Hemost 2001, 27:313-324.
8. Jayandharan G.R., Srivastava A., Srivastava A. Role of molecular genetics in hemophilia: from diagnosis to therapy. Semin Thromb Hemost 2012, 38:64-78.
9. Gouw S.C., van den Berg H.M., Oldenburg J., Astermark J., de Groot P.G., Margaglione M., et al. F8 gene mutation type and inhibitor development in patients with severe hemophilia A: a systematic review and meta-analysis. Blood 2012, 119:2922-2934.
10. Roosendaal G., Lafeber F.P. Pathogenesis of hemophilic arthropathy. Haemophilia 2006, 12(Suppl. 3):117-121.
11. Ljung R.C. Intracranial hemorrhage in haemophilia A and B. Br J Haematol 2008, 140:378-384.
12. Zanon E., Iorio A., Rocino A., Artoni A., Santoro R., Tagliaferri A. Italian Association of Hemophilia Centers. Intracranial hemorrhage in the Italian population of hemophilia patients with and without inhibitors. Haemophilia 2012, 18:39-45.
13. Franchini M. The modern treatment of haemophilia: a narrative review. Blood Transfus 2012, 11:178-182.
14. Franchini M., Mannucci P.M. Past, present and future of hemophilia treatment: a narrative review. Orphanet J Rare Dis 2012, 7:24.
15. Mannucci P.M. Hemophilia: treatment options on the twenty-first century. J Thromb Haemost 2005, 1:1349-1355.
16. Mannucci P.M. Back to the future: a recent history of haemophilia treatment. Haemophilia 2008, 14(Suppl. 3):10-18.
17. White G.C., McMillan C.W., Kingdon H.S., Shoemaker C.B. Use of recombinant antihemophilic factor in the treatment of two patients with classic hemophilia. N Engl J Med 1989, 320:166-170.
18. Franchini M., Lippi G. Recombinant FVIII products. Semin Thromb Hemost 2010, 36:537-549.
19. Brooker M. Registry of clotting factor concentrates 2012, World Federation of Hemophilia. 9th ed.
20. Mannucci P.M. Desmopressin (DDAVP) in the treatment of bleeding disorders: the first twenty years. Blood 1997, 90:2515-2521.
21. Franchini M. The use of desmopressin as a hemostatic agent. Am J Hematol 2007, 82:731-735.
22. Lethagen S. Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. Semin Thromb Hemost 2003, 29:101-106.
23. Franchini M., Favaloro E.J., Lippi G. Mild hemophilia A. J Thromb Haemost 2010, 8:421-432.
24. Das P., Carcao M., Hitzler J. DDAVP-induced hyponatremia in young children. J Pediatr Hematol Oncol 2005, 27:330-332.
25. Berntorp E., Astermark J., Bjorkman S., Blanchette V.S., Fischer K., Giangrande P.L., et al. Consensus perspectives on prophylaxis therapy for haemophilia: summary statement. Haemophilia 2003, 9(Suppl. 1):1-4.
26. Coppola A., Franchini M., Tagliaferri A. Prophylaxis in people with hemophilia. Thromb Haemost 2009, 101:674-681.
27. Coppola A., Tagliaferri A., Di Capua M., Franchini M. Prophylaxis in children with hemophilia: evidence-based achievements, old and new challenges. Semin Thromb Hemost 2012, 38:79-94.
28. Nilsson I.M. Experience with prophylaxis in Sweden. Semin Hematol 1993, 30(3 Suppl. 2):16-19.
29. Richards M., Williams M., Chalmers E., Liesner R., Collins P., Vidler V., et al. Paediatric Working Party of the United Kingdom Haemophilia Doctors' Organisation. A United Kingdom Haemophilia Centre Doctors' Organization guideline approved by the British Committee for Standards in Haematology: guideline on the use of prophylactic factor VIII concentrate in children and adults with severe haemophilia A. Br J Haematol 2010, 149:498-507.
30. Manco-Johnson M.J., Abshire T.C., Shapiro A.D., Riske B., Hacker M.R., Kilcoyne R., et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med 2007, 357:535-544.
31. Gringeri A., Lundin B., von Mackensen S., Mantovani L., Mannucci P.M., the ESPRIT Study Group A randomized clinical trial of prophylaxis in children with haemophilia A (the ESPRIT study). J Thromb Haemost 2011, 9:700-710.
32. Iorio A., Marchesini E., Marcucci M., Stobart K., Chan A.K. Clotting factor concentrates given to prevent bleeding and bleeding-related complications in people with hemophilia A or B. Cochrane Database Syst Rev 2011, 9:CD003429.
33. Tagliaferri A., Rivolta G.F., Coppola A., Feola G., Molinari A.C., Santoro C. Prophylaxis versus on-demand therapy through economic report (POTTER) study: preliminary data from the final five-year analysis. Haemophilia 2012, 18(Suppl. 3):160. [abstract].
34. Valentino L.A., Mamonov V., Hellmann A., Quon D.V., Chybicka A., Schroth P., et al. A randomized comparison of two prophylaxis regimens and a paired comparison of on-demand and prophylaxis treatments in hemophilia A management. J Thromb Haemost 2012, 10:359-367.
35. Manco-Johnson M.J., Kempton C.L., Reding M.T., Lissitchkov T., Goranov S., Gercheva L. Randomized, controlled, parallel-group trial of routine prophylaxis versus on-demand treatment with rFVIII-FS in adults with severe hemophilia A (SPINART). J Thromb Haemost 2013, [Epub ahead of print]. 10.1111/jth.12202.
36. Franchini M., Mannucci P.M. Prophylaxis for adults with haemophilia: towards a personalized approach?. Blood Transfus 2012, 10:123-124.
37. Ljung R. Hemophilia and prophylaxis. Pediatr Blood Cancer 2013, 60:S23-S26.
38. Franchini M., Lippi G. Recent improvements in the clinical treatment of coagulation factor inhibitors. Semin Thromb Hemost 2009, 35:806-813.
39. Franchini M., Mannucci P.M. Inhibitors of propagation of coagulation (factors VIII, IX and XI): a review of current therapeutic practice. Br J Clin Pharmacol 2011, 72:553-562.
40. Gringeri A., Mantovani L.G., Scalone L., Mannucci P.M., COCIS Study Group Cost of care and quality of life for patients with hemophilia complicated by inhibitors: the COCIS Study Group. Blood 2003, 102:2358-2363.
41. Astermark J. Overview of inhibitors. Semin Hematol 2006, 43(2 Suppl. 4):S3-S7.
42. Franchini M., Frattini F., Crestani S., Bonfanti C. Alloantibodies in previously untreated hemophilia A patients: the role of environmental factors. Hematology 2013, [Epub ahead of print].
43. Mannucci P.M. Plasma-derived versus recombinant factor VIII concentrates for the treatment of haemophilia A: plasma-derived is better. Blood Transfus 2010, 8:288-291.
44. Franchini M. Plasma-derived versus recombinant factor VIII concentrates for the treatment of haemophilia A: recombinant is better. Blood Transfus 2010, 8:292-296.
45. Franchini M., Lippi G. Von Willebrand factor-containing factor VIII concentrates and inhibitors in haemophilia A. A critical literature review. Thromb Haemost 2010, 104:931-940.
46. Shi Q., Kuether E.L., Schroeder J.A., Perry C.L., Fahs S.A., Cox Gill J., et al. Factor VIII inhibitors: von Willebrand factor makes a difference in vitro and in vivo. J Thromb Haemost 2012, 10:2328-2337.
47. Ragni M.V. Von Willebrand factor: factor VIII protector and friend. J Thromb Haemost 2012, 10:2324-2327.
48. Wight J., Paisley S. The epidemiology of inhibitors in haemophilia A: a systematic review. Haemophilia 2003, 9:418-435.
49. Iorio A., Halimeh S., Holzhauer S., Goldenberg N., Marchesini E., Marcucci M., et al. Rate of inhibitor development in previously untreated hemophilia A patients treated with plasma-derived or recombinant factor VIII concentrates: a systematic review. J Thromb Haemost 2010, 8:1256-1265.
50. Franchini M., Tagliaferri A., Mengoli C., Cruciani M. Cumulative inhibitor incidence in previously untreated patients with severe hemophilia A treated with plasma-derived versus recombinant factor VIII concentrates: a critical systematic review. Crit Rev Oncol Hematol 2012, 81:82-93.
51. Gouw S.C., van der Bom J.G., Lyung R., Escuriola C., Cid A.R., Claeyssens-Donadel S., et al. Factor VIII products and inhibitor development in severe hemophilia A. N Engl J Med 2013, 368:231-239.
52. Kessler C.M., Iorio A. The Rodin (Research Of Determinants of INhibitor development among pups with haemophilia) study: the clinical conundrum from the perspective of haemophilia treaters. Haemophilia 2013, 19:351-354.
53. Mannucci P.M., Gringeri A., Peyvandi F., Santagostino E. Factor VIII products and inhibitor development: the SIPPET study (survey of inhibitors in plasma-product exposed toddlers). Haemophilia 2007, 13(Suppl. 5):65-68.
54. Franchini M., Lippi G. Recombinant activated factor VII: mechanisms of action and current indications. Semin Thromb Hemost 2010, 36:485-492.
55. Cromwell C., Aledort L.M. FEIBA: a prohemostatic agent. Semin Thromb Hemost 2012, 38:265-267.
56. Franchini M., Coppola A., Tagliaferri A., Lippi G., Favaloro E.J. FEIBA versus Novo Seven in hemophilia patients with inhibitors. Semin Thromb Hemost 2013, [in press].
57. Santagostino E., Mancuso M.E., Rocino A., Mancuso G., Scaraggi F., Mannucci P.M. A prospective randomized trial of high and standard dosages of recombinant factor VIIa for treatment of hemarthroses in hemophiliacs with inhibitors. J Thromb Haemost 2006, 4:367-371.
58. Kavakli K., Makris M., Zulfikar B., Erhardtsen E., Abrams Z.S., Kenet G., et al. Home treatment of haemarthroses using a single dose regimen of recombinant activated factor VII in patients with haemophilia and inhibitors. A multi-centre, randomised, double-blind, cross-over trial. Thromb Haemost 2006, 95:600-605.
59. Konkle B.A., Ebbesen L.S., Erhardtsen E., Bianco R.P., Lissitchkov T., Rusen L., et al. Randomized, prospective clinical trial of recombinant factor VIIa for secondary prophylaxis in hemophilia patients with inhibitors. J Thromb Haemost 2007, 5:1904-1913.
60. Leissinger C., Gringeri A., Antmen B., Berntorp E., Biasioli C., Carpenter S., et al. Anti-inhibitor coagulant complex prophylaxis in hemophilia with inhibitors. N Engl J Med 2011, 365:1684-1692.
61. DiMichele D.M. Immune tolerance in haemophilia: the long journey to the fork in the road. Br J Haematol 2012, 159:123-134.
62. Franchini M., Lippi G. Immune tolerance induction for patients with severe hemophilia: a critical literature review. J Thromb Thrombolysis 2011, 32:439-447.
63. Collins P.W., Chalmers E., Hart D.P., Liesner R., Rangarajan S., Talks K., et al. UK Haemophilia Centre Doctors. Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. Br J Haematol 2013, 160:153-170.
64. Coppola A., Di Minno M.N.D., Santagostino E. Optimizing management of immune tolerance induction in patients with severe haemophilia A and inhibitors: towards evidence-based approaches. Br J Haematol 2010, 150:515-528.
65. Hay C.R., DiMichele D.M., International Immune Tolerance Study The principal results of the International Immune Tolerance Study: a randomized dose comparison. Blood 2012, 119:1335-1344.
66. Kurth M., Puetz J., Kouides P., Sanders J., Sexauer C., Bernstein J., et al. The use of a single von Willebrand factor-containing, plasma-derived FVIII product in hemophilia A immune tolerance induction: the US experience. J Thromb Haemost 2011, 9:2229-2234.
67. Di Minno G., Coppola A. A role for von Willebrand factor in immune tolerance induction in patients with haemophilia A and inhibitors?. Blood Transfus 2011, 9(Suppl. 2):s14-s20.
68. Rescue immunotolerance study in induction of immune yolerance (ITI)-experienced patients (RES.I.S.T. experienced) [Accessed: March 28, 2013]. http://www.clinicaltrials.gov/ct2/show/NCT01051076?term=resist&rank=7.
69. Tagliaferri A., Rivolta G.F., Iorio A., Oliovecchio E., Mancuso M.E., Morfini M., et al. Italian Association of Hemophilia Centers. Mortality and causes of death in Italian persons with haemophilia, 1990-2007. Haemophilia 2010, 16:437-446.
70. Franchini M., Mannucci P.M. Co-morbidities and quality of life in elderly persons with haemophilia. Br J Haematol 2010, 148:522-533.
71. Dolan G. The challenge of an ageing haemophilic population. Haemophilia 2010, 16(Suppl. 5):11-16.
72. Tagliaferri A., Di Perna C., Santoro C., Schinco P., Santoro R., Rossetti G., et al. Cancers in patients with hemophilia: a retrospective study from the Italian Association of Hemophilia Centers. J Thromb Haemost 2012, 10:90-95.
73. Mannucci P.M., Schutgens R.E.G., Santagostino E., Mauser-Bunschoten E.P. How I treat age-related morbidities in elderly persons with hemophilia. Blood 2009, 114:5256-5263.
74. Tuinenburg A., Mauser-Bunschoten E.P., Verhaar M.C., Biesma D.H., Schutgens R.E.G. Cardiovascular disease in patients with hemophilia. J Thromb Haemost 2009, 7:247-254.
75. Coppola A., Tagliaferri A., Franchini M. The management of cardiovascular diseases in patients with hemophilia. Semin Thromb Hemost 2010, 36:91-102.
76. Foley C.J., Nichols L., Jeong K., Moore C.G., Ragni M.V. Coronary atherosclerosis and cardiovascular mortality in hemophilia. J Thromb Haemost 2010, 8:208-211.
77. Zwiers M., Lefrandt J.D., Mulder D.J., Smit A.J., Gans R.O., Vliegenthart R., et al. Coronary artery calcification score and carotid intima-media thickness in patients with hemophilia. J Thromb Haemost 2012, 10:23-29.
78. Van de Putte D.E.F., Fischer K., Makris M., Tait R.C., Chowdary P., Collins P.W., et al. History of non-fatal cardiovascular disease in a cohort of Dutch and British patients with haemophilia. Eur J Haematol 2012, 89:336-339.
79. Siboni S.M., Mannucci P.M., Gringeri A., Franchini M., Tagliaferri A., Ferretti M., et al. Health status and quality of life of elderly persons with severe hemophilia born before the advent of modern replacement therapy. J Thromb Haemost 2009, 7:780-786.
80. Pipe S.W. The hope and reality of long-acting hemophilia products. Am J Hematol 2012, 87:S33-S39.
81. Mannucci P.M., Mancuso M.E. Investigational drugs for coagulation disorders. Expert Opin Investig Drugs 2013, [Epub ahead of print].
82. Young G. New challenges in hemophilia: long-term outcomes and complications. Hematology Am Soc Hematol Educ Program 2012, 362-368.
83. High K.A. The gene therapy journey for hemophilia: are we there yet?. Blood 2012, 120:4482-4487.
84. High K.A. Gene therapy for haemophilia: a long and winding road. J Thromb Haemost 2011, 9(Suppl. 1):2-11.
85. Nathwani A.C., Tuddenham E.G., Rangarajan S., Rosales C., McIntosh J., Linch D.C., et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 2011, 1(365):2357-2365.