Manual práctico de Trombosis y Hemostasia de la SETH

I I . PA T O LO G Í A D E L A H E M O ST A S I A — 8 4 — mejoría en la técnicas diagnósticas son esenciales para alcanzar un resultado óptimo en el manejo de estos pacientes. La participación en registros globales permite acumular in- formación sobre la verdadera prevalencia de estas entidades, las alteraciones moleculares implicadas, el patrón, la frecuencia de sangrado y la mínima actividad de factor requerida para asegurar una hemostasia correcta. BIBLIOGRAFÍA 1. Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P. Rare bleeding disorders. Haemophilia 2012;18(Suppl 4):148-53. 2. Peyvandi F, Palla R, Menegatti M, Mannucci PM. Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management. SeminThromb Hemost 2009;35(4): 349-55. 3. Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost 2012;10:615:21. 4. Acharya SS, Coughlin A, Dimichele DM. North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II,V,VII, X, XIII, fibrinogen and dysfibrinoge- nemias. J Thromb Haemost 2004;2:248-56. 5. Palla R, Peyvandi F, Shapiro AD. Rare bleeding disorders: diagnosis and treatment. Blood 2015;125(13):2052-61. 6. Peyvandi F, Di Michele D, Bolton-Maggs PHB, Lee CA, Tripodi A, Srivastava A. Classification of rare bleeding disor- ders (RBDs) based on the association between coagulant fac- tor activity and clinical bleeding severity. J Thromb Haemost 2012;10:1938-43. 7. Livnat T, Barg AA, Levy-Mendelovich S, Kenet G. Rare bleeding disorders-old diseases in the era of novel options for therapy. Blood Cells Mol Dis 2017;14:S1079-9796. 8. Siboni S,Zanon E,Sottilotta G,Consonni D,Castaman G,Mikovic D, et al. Central nervous system bleeding in patients with rare blee- ding disorders. Haemophilia 2012;18:34-8. 9. Kadir R, Chi C, Bolton Maggs P. Pregnancy and rare bleeding di- sorders. Haemophilia 2009;15(5):990-1005. 10. Muszbek L, Bagoly Z, Cairo A, Peyvandi F. Novel aspects of factor XIII deficiency. Curr Opin Hematol 2011;18(5):366-72. 11. Lu JT, Campeau PM, Lee BH. Genotypephenotype correlation promiscuity in the era of next-generation sequencing. New Engl J Med 2014;371:593-6. 12. Mumford AD, Ackroyd S, Alikhan R, Bowles L, Chowdary P, Gra- inger J, et al; BCSH Committee. Guideline for the diagnosis and management of the rare coagulation disorders: a United King- dom Haemophilia Centre Doctors’ Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol 2014;167(3):304-26. 13. De Moerloose P, Schved JF, Nugent D. Rare coagulation disorders: fibrinogen, factor VII and factor XIII. Haemophilia 2016;22(Suppl 5): 61-5. 14. Peyvandi F, Haertel S, Knaub S, Mannucci PM. Incidence of blee- ding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia. J Thromb Haemost 2006;4(7):1634-7. 15. Lancellotti S, Basso M, De Cristofaro R. Congenital prothrombin deficiency: an update. SeminThromb Hemost 2013;39(6):596-606. 16. Todd T, Perry DJ. A review of long-term prophylaxis in the rare inherited coagulation factor deficiencies. Haemophilia 2010;16(4):569-83. 17. Franchini M, Lippi G. Recombinant activated factor VII: mecha- nisms of action and current indications. Semin Thromb Haemost 2010;36:485-92. 18. Brown DL, Kouides PA. Diagnosis and treatment of inherited fac- tor X deficiency. Haemophilia 2008;14(6):1176-82. 19. Emsley J, McEwan PA, Gailani D. Structure and function of factor XI. Blood 2010;115(13):2569-77. 20. Duga S, Salomon O. Congenital factor XI deficiency: an update. Semin Thromb Hemost 2013;39(6):621-31. 21. Rea CJ, Foley JH, Okaisabor O, Sørensen B. FXIII: mechanisms of action in the treatment of hemophilia A. J Thromb Haemost 2014;12(2):159-68. 22. Inbal A,Oldenburg J, Carcao M, RosholmA,Tehranchi R,Nugent D. Recombinant factor XIII: a safe and novel treatment for congeni- tal factor XIII deficiency. Blood 2012;119:5111-7. 23. Lunghi B, Redaelli R, CaimiTM, Corno AR, Bernardi F, Marchetti G. Novel phenotype and gamma-glutamyl carboxylase mutations in combined deficiency of vitamin Kdependent coagulation factors. Haemophilia 2011;17(5):822-4.