Rare bleeding disorders

Haemophilia

Volumn 18, Issue SUPPL.4, 2012, Pages 148-153

  Peyvandi, Flora ^a   Bolton Maggs, Paula Hb ^b   Batorova, Angelika ^c   De Moerloose, Philippe ^d  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c UNIVERSITY HOSPITAL BRATISLAVA   (Slovakia)

^d UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

Factor VII; Factor XI; Fibrinogen; Haemostasis

Indexed keywords

ANTIFIBRINOLYTIC AGENT; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 7; FIBRINOGEN; FIBRINOGEN CONCENTRATE; RECOMBINANT BLOOD CLOTTING FACTOR 7A;

AFIBRINOGENEMIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLEEDING DISORDER; BLEEDING TENDENCY; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING FACTOR 11 DEFICIENCY; BLOOD CLOTTING FACTOR 12 DEFICIENCY; BLOOD CLOTTING FACTOR 5 DEFICIENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD COMPONENT THERAPY; CLINICAL FEATURE; DISEASE ACTIVITY; DISEASE SEVERITY; DRUG EFFICACY; FIBRINOGEN DEFECT; GENE MUTATION; HEMOPHILIA A; HEMOSTASIS; HUMAN; HYPOFIBRINOGENEMIA; LOW DRUG DOSE; PATIENT CARE; PREVALENCE; PRIORITY JOURNAL; PROPHYLAXIS; PROTHROMBIN DEFICIENCY; RARE DISEASE; RISK REDUCTION; SYMPTOM; THROMBOSIS PREVENTION; TREATMENT INDICATION;

AFIBRINOGENEMIA; COAGULANTS; DRUG ADMINISTRATION SCHEDULE; FACTOR VII DEFICIENCY; FACTOR XI DEFICIENCY; HEMOSTASIS; HUMANS; PLASMA; RARE DISEASES;

EID: 84862856880     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2012.02841.x     Document Type: Article

References (54)

1. Tuddenham EGD, Cooper DN. The Molecular Genetics of Haemostasis and its Inherited Disorders. Oxford; New York: Oxford University Press, 1994.
2. Peyvandi F, Palla R, Menegatti M, Mannucci PM. Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management. Semin Thromb Hemost 2009; 35: 349-55.
3. Peyvandi F, Kaufman RJ, Seligsohn U et al. Rare bleeding disorders. Haemophilia 2006; 12(Suppl. 3): 137-42.
4. Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-52.
5. Bolton-Maggs PH, Perry DJ, Chalmers EA et al. The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia 2004; 10: 593-628.
6. Muller F, Gailani D, Renne T. Factor XI and XII as antithrombotic targets. Curr Opin Hematol 2011; 18: 349-55.
7. Salomon O, Steinberg DM, Koren-Morag N, Tanne D, Seligsohn U. Reduced incidence of ischemic stroke in patients with severe factor XI deficiency. Blood 2008; 111: 4113-7.
8. Salomon O, Steinberg DM, Dardik R et al. Inherited factor XI deficiency confers no protection against acute myocardial infarction. J Thromb Haemost 2003; 1: 658-61.
9. Salomon O, Steinberg DM, Zucker M, Varon D, Zivelin A, Seligsohn U. Patients with severe factor XI deficiency have a reduced incidence of deep-vein thrombosis. Thromb Haemost 2011; 105: 269-73.
10. Kravtsov DV, Matafonov A, Tucker EI et al. Factor XI contributes to thrombin generation in the absence of factor XII. Blood 2009; 114: 452-8.
11. Bolton-Maggs PH. Factor XI deficiency--resolving the enigma? Hematology Am Soc Hematol Educ Program 2009; 97-105.
12. Peyvandi F, Palla R, Menegatti M 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.
13. Sadler JE. Low von Willebrand factor: sometimes a risk factor and sometimes a disease. Hematology Am Soc Hematol Educ Program 2009; 106-12.
14. Rugeri L, Quelin F, Chatard B, De Mazancourt P, Negrier C, Dargaud Y. Thrombin generation in patients with factor XI deficiency and clinical bleeding risk. Haemophilia 2010; 16: 771-7.
15. Bolton-Maggs PH. Bleeding problems in factor XI deficient women. Haemophilia 1999; 5: 155-9.
16. Salomon O, Steinberg DM, Seligshon U. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy. Haemophilia 2006; 12: 490-3.
17. Berliner S, Horowitz I, Martinowitz U, Brenner B, Seligsohn U. Dental surgery in patients with severe factor XI deficiency without plasma replacement. Blood Coagul Fibrinolysis 1992; 3: 465-8.
18. Salomon O, Zivelin A, Livnat T, Seligsohn U. Inhibitors to Factor XI in patients with severe Factor XI deficiency. Semin Hematol 2006; 43: S10-2.
19. Livnat T, Tamarin I, Mor Y et al. Recombinant activated factor VII and tranexamic acid are haemostatically effective during major surgery in factor XI-deficient patients with inhibitor antibodies. Thromb Haemost 2009; 102: 487-92.
20. Riddell A, Abdul-Kadir R, Pollard D, Tuddenham E, Gomez K. Monitoring low dose recombinant factor VIIa therapy in patients with severe factor XI deficiency undergoing surgery. Thromb Haemost 2011; 106: 521-7.
21. Perry DJ. Factor VII Deficiency. Br J Haematol 2002; 118: 689-700.
22. Mariani G, Herrmann FH, Dolce A et al. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost 2005; 93: 481-7.
23. Herrmann FH, Wulff K, Auerswald G et al. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia 2009; 15: 267-80.
24. Peyvandi F, Mannucci PM, Asti D, Abdoullahi M, Di Rocco N, Sharifan R. Clinical manifestation in 28 Italian and Iranian patients with severe factor VII deficiency. Haemophilia 1997; 3: 242-6.
25. Batorova A, Jankovicova D, Lazur J, Hrudova E, Birasova M, Vongreyova H, et al. National registry of factor VII deficiency in Slovakia - clinical survey of 230 patients. In: Herrmann FH, ed. Gene Diagnosis of Inherited Bleeding Disorders. Lengerich: Pabst-Science-Publishers, 2002: 146-61.
26. Lapecorella M, Mariani G. Factor VII deficiency: defining the clinical picture and optimizing therapeutic options. Haemophilia 2008; 14: 1170-5.
27. McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG. Factor VII deficiency and the FVII mutation database. Hum Mutat 2001; 17: 3-17.
28. Tamary H, Fromovich Y, Shalmon L et al. Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. Thromb Haemost 1996; 76: 283-91.
29. Peyvandi F, Jenkins PV, Mannucci PM et al. Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency. Thromb Haemost 2000; 84: 250-7.
30. Giansily-Blaizot M, Aguilar-Martinez P, Biron-Andreani C, Jeanjean P, Igual H, Schved JF. Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency. Eur J Hum Genet 2001; 9: 105-12.
31. Kwon MJ, Yoo KY, Lee KO, Kim SH, Kim HJ. Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea. Blood Coagul Fibrinolysis 2011; 22: 102-5.
32. World Federation of Hemophilia. Report on the Annual Global Survey. Montreal: WFH, 2010: 1-45.
33. Ragni MV, Lewis JH, Spero JA, Hasiba U. Factor VII deficiency. Am J Hematol 1981; 10: 79-88.
34. Di Minno MND, Batorova A, Napolitano M et al. At disease presentation, severity of the bleeding symptom predicts the following bleeds in patients with FVII deficiency [abstract]. Blood 2011; 118: 543.
35. James AH. Women and bleeding disorders. Haemophilia 2010; 16(Suppl. 5): 160-7.
36. Peyvandi F, Garagiola I, Menegatti M. Gynecological and obstetrical manifestations of inherited bleeding disorders in women. J Thromb Haemost 2011; 9(Suppl. 1): 236-45.
37. Rodeghiero F, Castaman G, Tosetto A et al. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. J Thromb Haemost 2005; 3: 2619-26.
38. Mariani G, Herrmann FH, Schulman S et al. Thrombosis in inherited factor VII deficiency. J Thromb Haemost 2003; 1: 2153-8.
39. Batorova A, Cupanik V, Steno B, Borovsky M, Horvathova D, Jankovicova D. Management of 118 surgeries in congenital FVII deficiency. A single centre experience [abstract]. J Thromb Haemost 2009; 7: Abstract PP-WE-656.
40. Giansily-Blaizot M, Biron-Andreani C, Aguilar-Martinez P et al. Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleeding. Br J Haematol 2002; 117: 172-5.
41. Mariani G, Dolce A, Batorova A et al. Recombinant, activated factor VII for surgery in factor VII deficiency: a prospective evaluation - the surgical STER. Br J Haematol 2011; 152: 340-6.
42. Mazoyer E, Kevorkian JP, Biyick E, Bellucci S, Michalski C, Drouet L. Efficacy and safety of continuous infusion of factor VII concentrate in a factor VII-deficient patient at high risk for arterial thrombosis. Blood Coagul Fibrinolysis 2004; 15: 519-20.
43. Tran HT, Tjonnfjord GE, Paus A, Holme PA. rFVIIa administered by continuous infusion during surgery in patients with severe congenital FVII deficiency. Haemophilia 2011; 17: 764-70.
44. Benlakhal F, Mura T, Schved JF, Giansily-Blaizot M. A retrospective analysis of 157 surgical procedures performed without replacement therapy in 83 unrelated factor VII-deficient patients. J Thromb Haemost 2011; 9: 1149-56.
45. Todd T, Perry DJ. A review of long-term prophylaxis in the rare inherited coagulation factor deficiencies. Haemophilia 2010; 16: 569-83.
46. de Moerloose P, Neerman-Arbez M. Congenital fibrinogen disorders. Semin Thromb Hemost 2009; 35: 356-66.
47. Neerman-Arbez M, de Moeloose P. Hereditary fibrinogen abnormalities. In: Kaushansky K, Lichtman M, Beutler E, Kipps T, Prchal J, Seligsohn U, eds. Williams Hematology. 8th edn. New York: McGraw-Hill, 2010: 2051-68.
48. Brennan SO, Maghzal G, Shneider BL, Gordon R, Magid MS, George PM. Novel fibrinogen gamma375 Arg-->Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology 2002; 36: 652-8.
49. Lak M, Keihani M, Elahi F, Peyvandi F, Mannucci PM. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol 1999; 107: 204-6.
50. Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ. Fibrinogen replacement therapy for congenital fibrinogen deficiency. J Thromb Haemost 2011; 9: 1687-704.
51. Huq FY, Kadir RA. Management of pregnancy, labour and delivery in women with inherited bleeding disorders. Haemophilia 2011; 17(Suppl. 1): 20-30.
52. Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995; 73: 151-61.
53. Hill M, Dolan G. Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias. Haemophilia 2008; 14: 889-97.
54. Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nat Genet 1993; 3: 252-5.