Familial association of hypoplasminogenemia and heterozygous factor V deficiency

Clinical and Applied Thrombosis/Hemostasis

Volumn 5, Issue 4, 1999, Pages 277-281

  Sartori, Maria Teresa ^a   Patrassi, Giovanni Maurizio ^a   Theodoridis, Panagiotis ^a   Danesin, Cristina ^a   Abati, Carlo ^a   Girolami, Antonio ^a,b  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

Factor V deficiency; Inherited clotting defects; Inherited thrombophilia; Plasminogen deficiency

Indexed keywords

BLOOD CLOTTING FACTOR 5; PLASMINOGEN;

ADULT; ARTICLE; BLOOD CLOTTING FACTOR 5 DEFICIENCY; BLOOD CLOTTING FACTOR DEFICIENCY; BLOOD CLOTTING TIME; BRAIN ISCHEMIA; CASE REPORT; FAMILY HISTORY; FEMALE; HETEROZYGOSITY; HUMAN; PARTIAL THROMBOPLASTIN TIME; PEDIGREE; PRIORITY JOURNAL; PROTHROMBIN TIME; THROMBOPHILIA;

EID: 0032706993     PISSN: 10760296     EISSN: None     Source Type: Journal    
DOI: 10.1177/107602969900500412     Document Type: Article

References (45)

1. Aoki N, Moroi M, Sakata Y, et al. Abnormal plasminogen. A hereditary molecular abnormality found in patients with recurrent thrombosis. J Clin Invest 1978;61:1186.
2. Hasegawa DK, Tyler BJ, Edson JR. Thrombotic disease in three families with inherited plasminogen deficiency. Blood 1982: 60(Suppl 1):213a.
3. Girolami A, Sartori MT, Saggiorato G, et al. Symptomatic versus asymptomatic patients in congenital hypoplasminogenemia: a statistical analysis. Haematologia 1994;26:59.
4. Sartori MT, Patrassi GM, Theodoridis P, et al. Heterozygous type I plasminogen deficiency is associated with an increased risk for thrombosis: a statistical analysis in 20 kindreds. Blood Coagul Fibrinolysis 1994;5:889.
5. Van den Belt AGM, Prins MH, Huisman MV, et al. Familial thrombophilia: a review analysis. Clin Appl Thromb Hemost 1996; 2:227.
6. Shigekiyo T, Uno Y, Tomonari A, et al. Type I congenital plasminogen deficiency is not a risk factor for thrombosis. Thromb Haemost 1992;67:189.
7. Tait RC, Walker ID, Conkie JA, et al. Isolated plasminogen deficiency may not be a risk factor for thrombosis. Thromb Haemost 1996;76:1004.
8. Dermamels Biasutti F, Sulzer B, Stucki B, et al. Is plasminogen deficiency a thrombotic risk factor? A study on 23 thrombophilic patients and their family members. Thromb Haemost 1998;80:167.
9. Rosing J, Tans G. Coagulation factor V: an old star shines again. Thromb Haemost 1997;78:427.
10. Owren PA. Parahaemophilia, haemorrhagic diathesis due to absence of a previously unknown clotting factor. Lancet 1947;i:446.
11. Tracy PB, Mann KG. Abnormal formation of the prothombinase complex: factor V deficiency and related disorders. Hum Pathol 1987;18:162.
12. Murray JM, Rand MD, Egan JO, et al. Factor V New Brunswick: Ala221-to-Val substitution results in reduced cofactor activity Blood 1995;86:1820.
13. Rivard GE. Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet factor V deficiency. J Clin Invest 1984; 74:1221.
14. Guasch JF, Cannegieter S, Reitsma PH, et al. Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene. Br J Haematol 1998;101:32.
15. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by a poor anticoagulant response to activated protein C: prediction ot a co-factor to activated protein C. Proc Natl Acad Sci USA 1993;90: 1004.
16. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64.
17. Girolami A, Brunetti A, De Marco L. Congenital combined deficiency of factor V and factor VIII in a male born from a brother sister incest. Blut 1974;28:33.
18. Gobbi F, Ascari E, Barlieri U. Congenital combined deficiency of factor VIII (antihemophilic globulin) and factor V (proaccelerin) in two siblings. Thromb Diath Haemorrh 1967;17:294.
19. Brown JM, Selik NR, Voelpel MJ, et al. Combined factor V/VIII deficiency, a case report including levels of factor V and factor VIII coagulant and antigen as well as protein C inhibitor. Am J Hematol 1985;20:405.
20. Girolami A, Gastoldi G, Patrassi GM, et al. Combined congenital deficiency of factor V and factor VIII. Report of a further case with some considerations on the hereditary transmission of this disorder. Acta Haematol 1976;55:234.
21. Rotoli B, D'Avino R, Chiurazzi F. Combined factor V and Factor VII deficiency. Acta Haematol 1983;69:117.
22. Girolami A, Simioni P, Venturelli U, et al. Factor V antigen levels in APC resistance, in factor V deficiency and in combined APC resistance and factor V deficiency (pseudohomozygosis for APC resistance). Blood Coagul Fibrinolysis 1997;8:245.
23. Simioni P, Scudeller A, Radossi P, et al. Pseudohomozygous activated protein C resistance due to double heterozygous factor V defect (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds. Thromb Haemost 1996;75:422.
24. Manabe S, Matsuda M. Homozygous protein C deficiency combined with heterozygous dysplasminogenemia found in a 21-year-old thrombophilic male. Thromb Res 1985;39:333.
25. Mateo J, Oliver A, Borrell M, et al., and the EMET Group. Laboratory evaluation and clinical characteristics of 2132 consecutive unselected patients with venous thromboembolism-results of the Spanish Multicentric Study on Thrombophilia (EMET*-Study). Thromb Haemost 1997;77:444.
26. l ciden mutation. Blood Coagul Fibrinolysis 1997;8:195.
27. Züger M, Demarmels Biasutti F, Furlan M, et al. Plasminogen deficiency: an additional risk factor for thrombosis in a family with factor V R506Q mutation? Thromb Haemost 1996;76:475.
28. Castaman G, Ruggeri M, Tosetto A, et al. Low risk of venous thrombosis in two families with combiend type I plasminogen deficiency and factor V R506Q mutation. Am J Hematol 1998;57: 344.
29. Sartori MT, Simioni P, Theodoridis P, et al. Hypoplasminogenemia and factor V Leiden defect in a family with thrombotic tendency. Fibrinolysis 1998;12(Suppl 1):88.
30. Girolami A, Scarpa R, Brunetti A, et al. Congenital factor V deficiency in a 15 month old child. Coagulation 1969;2:343.
31. Simioni P, Girolami A. Homozygous factor V deficient patients show resistance to activated protein C whereas heterozygous do not. Blood Coagul Fibrinolysis 1994;5:825.
32. Friederich PW, Sanson BJ, Simioni P, et al. Frequency of pregnancy-related venous thromboembolism in anticoagulant factor-deficient women: implication for prophylaxis. Ann Intern Med 1996;125:955.
33. de Ronde H, Bertina RM. Laboratory diagnosis of APC-resistance: a critical evaluation of the test and the development of diagnostic criteria. Thromb Haemost 1994;72:880.
34. Soria C, Soria J, Samama M. Dosage dù plasminogéne à l'aide d'un substrate chromogène thripeptidique. Pathol Biol 1976;24: 725.
35. Laurell CB. Quantitative estimation of proteins by electrophoresis of human serum proteins. Annal Biochem 1966;15:45.
36. Zanon E, Saracino MA, Simioni P, et al. Prevalence of antiphospholipid antibodies and lupus anticoagulant in juvenile patients with objectively documented deep vein thrombosis. Clin Appl Thromb Hemost 1996;2:69.
37. Simioni P, Prandoni P, Zanon E, et al. Deep venous thrombosis and lupus anticoagulant: a case-control study. Thromb Haemost 1996; 76:187.
38. Poort SR, Rosendaal FR, Reitsma PH, et al. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698.
39. Girolami A, Simioni P, Scarano L, et al. Hemorrhagic and thrombotic disorders due to factor V deficiencies and abnormalities: an updated classification. Blood Rev 1998;12:45.
40. Girolami A. The hereditary transmission of congenital "true" hypoprothrombinaemia. Br J Haematol 1971;21:695.
41. Girolami A, Brunetti A, Bareggi A, et al. Abnormal factor X (factor X Friuli) coagulation disorder. The heterozygote population. Acta Haematol 1974;51:40.
42. Shen L, Dahlbäck B. Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor VIIIa. J Biol Chem 1994;269:18735.
43. Lu D, Kalafatis M, Mann KG, et al. Comparison of activated protein C/protein S-mediated inactivation of human factor VIII and factor V. Blood 1996;87:4708.
44. Varadi K, Rosing J, Tans G, et al. Factor V enhances the cofactor function of protein S in the APC-mediated inactivation of factor VIII: influence of the factor V R506Q mutation. Thromb Haemost 1996;76:208.
45. Girolami A, Cappellato MG, Vicariotto MA, et al. Associated von Willebrand disease as a possible cause of lack of thrombosis in an AT III abnormality (AT III Trento). Blut 1986;52:29.