Prothrombin G20210A gene mutation, heparin cofactor II defects, primary (essential) thrombocythemia, and thrombohemorrhagic manifestations

Seminars in Thrombosis and Hemostasis

Volumn 25, Issue 4, 1999, Pages 375-386

  Frenkel, Eugene P ^a   Bick, Rodger L ^a,b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b NONE   (United States)

Author keywords

Embolism; Essential thrombocythemia; Heparin cofactor II; Primary thrombocythemia; Prothrombin G20210A gene mutation; Thrombosis

Indexed keywords

HEPARIN COFACTOR II; PROTHROMBIN;

AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; DEEP VEIN THROMBOSIS; DISEASE ASSOCIATION; DISSEMINATED INTRAVASCULAR CLOTTING; GENE MUTATION; HEMOSTASIS; HUMAN; PATHOPHYSIOLOGY; PREGNANCY; PRIORITY JOURNAL; REVIEW; THROMBOCYTHEMIA; THROMBOCYTOPENIA; THROMBOEMBOLISM; THROMBOPHILIA;

EID: 0032730754     PISSN: 00946176     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-994941     Document Type: Review

References (92)

1. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. 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: 3698-3703
2. Brown K, Luddington R, Williamson D, Baker P, Baglin T. Risk of venous thromboembolism associated with a G to A transition at position 20210 in the 3′-untranslated region of the prothrombin gene. Br J Haematol 1997;98:907-909
3. Rosendaal FR, Doggen CMJ, Zivelin A, et al. Geographic distribution of the 20210G to A prothrombin variant. Thromb Haemost 1998;79:706-708
4. Ferraresi P, Marchetti G, Legnani C, et al. The heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilia and is not increased in frequency in arterial disease. Atherosclerosis Thromb Vasc Biol 1997;17:2418-2422
5. De Stefano V, Chiusoli P, Paciaroni K, et al. Prothrombin G20210A mutant genotype is a risk for cerebrovascular ischemic disease in young patients. Blood 1998; 91:3562-3565
6. Martinelli I, Sacchi E, Landi G, et al. High risk of cerebral vein thrombosis in carriers of a prothrombin-gene mutation and in users of oral contraceptives. N Engl J Med 1998; 338:1793-1797
7. Reuner KH, Ruf A, Grau A, et al. Prothrombin gene G20210 to A transition is a risk factor for cerebral venous thrombosis. Stroke 1998;29:1765-1769
8. Briginshaw GF, Shanberge JN. Identification of two distinct heparin cofactors in human plasma: II. inhibition of thrombin and activated factor X. Thromb Res 1974;4:463-477
9. Tollifsen DM, Blank MK. Detection of a new heparin-dependent inhibitor of thrombin in human plasma. J Clin Invest 1981; 68:589-596
10. Bick RL, Kaplan H. Syndromes of thrombosis and hypercoagulability: Congenital and acquired thrombophilias. Clin Appl Thromb Hemost 1998;4:25-50
11. Bick RL. Hypercoagulability and thrombosis. Med Clin N Am 1994;78:635-666
12. Tran TH, Marbet GA, Duckert F. Association of hereditary heparin cofactor II deficiency with thrombosis. Lancet 1985;II:413. Letter
13. Bertina RM, Van der Linden IK, Engesser L, Muller HP, Brommer JP. Hereditary heparin cofactor-II deficiency and the risk of development of thrombosis. Thromb Haemost 1987;57: 196-200
14. Mateo J, Oliver A, Borrell M, Sala N, Fontcuberta J. Increased risk of venous thrombosis in carriers of natural anticoagulant deficiencies. Results of the family studies of the Spanish Multicentric Study on Thrombophilia (EMET study). Blood Coag Fibrinolysis 1998;9:71-78
15. Hudecek J, Halakova E, Ivankova J, Kubisz P. Heparin cofactor II and thrombophilic conditions Vnitrni Lekarstvi, 1997;43: 317-319
16. Mateo J, Oliver A, Borrell M, Sala N, Fontcuberta J. Laboratory evaluation and clinical characteristics of 2,132 consecutive unselected patients with venous thromboembolism-results of the Spanish Multicentric Study on Thrombophilia (EMET-Study). Thromb Haemost 1997;77:444-451
17. Bernardi F, Legnani C, Micheletti F, et al. A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects. Thromb Haemost 1996;76:505-509
18. Lopaciuk S, Bykowska K, Kopec M. Prevalence of heparin cofactor II deficiency in patients with a history of venous thrombosis. Polish J Pharmacol 1996;48:109-111
19. Jaeken J, Goemans N, Fryns JP, Francois I, de Zegher F, An association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome and suggest this is evidence for a contiguous gene syndrome locating the proline oxidase gene. J Inherit Metab Dis 1996;19:275-277
20. Kondo S, Tokunaga F, Kario K, Matsuo T, Koide T. Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji). Blood 1996;87:1006-1012
21. Bick RL, Ucar K, Hypcrcoagulability and thrombosis. Hematol Oncol Clin N Am 1992;6:1421-1432
22. Reverdiau-Moalic P, Delahousse B, Body G, et al. The evolution of blood coagulation activators and inhibitors in the healthy human fetus. Blood 1996;88:900-906
23. Bellart J, Gilabert R, Cabero L, et al. Heparin cofactor II: A new marker for pre-eclampsia. Blood Coag Fibrinolysis 1998;9: 205-208
24. Bellart J, Gilabert R, Fontcuberta J, et al. Coagulation and fibrinolytic parameters in normal pregnancy and in pregnancy complicated by intrauterine growth retardation. Am J Perinatol 1998;15:81-85
25. Andersen BS, Rahr HB, Sorensen JV. Determination of coagulation inhibitor levels and resistance to activated protein C in patients undergoing gastric surgery for benign and malignant disorders. Haemostasia 1997;27:157-162
26. Chan AK, Leaker M, Burrows FA, et al. Coagulation and fibrinolytic profile of paediatric patients undergoing cardiopulmonary bypass. Thromb Haemost 1997;77:270-277
27. Cardigan RA, Hamilton-Davies C, McDonald S, et al. Haemostatic changes in the pulmonary blood during cardiopulmonary bypass. Blood Coag Fibrinolysis 1996;7:567-577
28. Andersson T, Lorentzen B, Hogdahl H, et al. Thrombin-inhibitor complexes in the blood during and after delivery. Thromb Res 1996;82:109-117
29. Writing Group for the Estradiol Clotting Factors Study. Effects on haemostasis of hormone replacement therapy with transdermal estradiol and oral sequential medroxyprogesterone acetate: A 1-year, double-blind, placebo-controlled study. Thromb Haemost 1996;75:476-480
30. Levy PJ, Gonzalez MF, Hornung CA, et al. A prospective evaluation of atherosclerotic risk factors and hypercoagulability in young adults with premature lower extremity atherosclerosis. J Vasc Surg 1996;23:36-43
31. O'Driscoll A, Mackie IJ, Porter JB, Machin SJ. Low plasma heparin cofactor II levels in thalassaemia syndromes are corrected by chronic blood transfusion. Br J Haematol 1995;90:65-70
32. Rodeghiero F, Tosetto A. The VITA Project: Population-based distributions of protein C, antithrombin III, heparin-cofactor II and plasminogen-relationship with physiological variables and establishment of reference ranges. Thromb Haemost 1996;76:226-233
33. Frenkel EP. The clinical spectrum of thrombocytosis and thrombocythemia. Am J Med Sci 1991;301:69-80
34. Michiels JJ, Juvonen E. Proposal for revised diagnostic criteria of essential thrombocythemia and polycythemia vera by the Thrombocythemia Vera Study Group. Semin Thromb Hemost 1997;23:339-347
35. Fialkow PJ, Faquet GB, Jacobson RJ. Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell. Blood 1981;58:916-919
36. Patel KJ, Hughes CG, Parapia LA. Pseudoleukocytosis and pseudothrombocytosis due to cryoglobulinemia. J Clin Pathol 1987;40:120-121
37. Schilling RF. Platelet millionaires. Lancet 1980;230:828
38. Mitus JA, Schafer Al. Thrombocytosis and thrombocythemia. Hematol Oncol Clin N Am 1990;4:157-178
39. Murphy S, Thrombocytosis and thrombocythemia. Clin Hematol 1983;12:89-106
40. Schafer AI. Bleeding and thrombosis in the myeloproliferative disorders. Blood 1984;64:1-12
41. Kutti J. The management of thrombocytosis. Eur J Haematol 1990:44:81-88
42. Laszlo J. Mycloproliferative disorders (MPD): Myelofibrosis, myelosclerosis, extramedullary hematopoiesis, undifferentiated MPD, and hemorrhagic thrombocythemia. Semin Hematol 1975;12:409-432
43. Iland HJ, Laszlo J, Peterson P, et al. Essential thrombocythemia. Clinical and laboratory characteristics at presentation. Trans Assoc Am Phys 1983;96:165
44. Iland HJ, Laszlo J, Case DC Jr, et al. Differentiation between essential thrombocythemia and polycythemia vera with marked thrombocytosis. Am J Hematol 1987;25:191-201
45. Frenkel EP, Polycythemia vera, myclofibrosis, and primary (essential) thrombocythemia. In: Calabresse P, Schein P, eds. Medical Oncology. Basic Principles and Clinical Management, 2nd ed. New York: McGraw Hill; 1993:503-515
46. Michiels JJ, Kutti J, Stark M, et al. Diagnosis, pathogenesis and treatment of the myeloproliferalive disorders: Essential thrombocythemia, polycythemia vera and essential megaceedings of the Rotterdam MPD - Work Shop; March 1998; 1-21
47. Epstein E, Goedel A. Hämorrhagische Thrombocythäemia bei vaskulärer Schrumpfmilz. Virchows Arch (Pathol Anat) 1934; 293:233
48. Gunz FW. Hemorrhagic thrombocythemia: A critical review. Blood 1960;15:706-723
49. Ozer FL, Truax WE, Miesch DC, Levin WC, Primary hemorrhagic thrombocythemia. Am J Med 1960;28:807-811
50. Silverstein MN. Primary or hemorrhagic thrombocythemia. Arch Intern Med 1968;122:18-22
51. Lewis SM, Szur L, Hoffbrand AV. Thrombocythemia. Clin Hematol 1972;1:339-357
52. Barnhart MI, Kim TH, Evatt BL, et al. Essential thrombocythemia in a child: Platelet ultrastructure and function. Am J Hematol 1980;8:87-107
53. Eyster ME, Saletan SL, Rabellino EM, et al. Familial essential thrombocythemia. Am J Med 1986;80:497-502
54. Hoagland HC, Silverstein MN. Primary thrombocythemia in the young patient. Mayo Clinic Proc 1978;53:578-580
55. Millard FE, Hunter CS, Anderson M, et al. Clinical manifestations of essential thrombocythemia in young adults. Am J Hematol 1980;33:27-31
56. Mitus AJ, Barbui T, Shulmar LN, et al. Hemostatic complications in young patients with essential thrombocythemia. Am J Med 1990;88:371-375
57. Michiels JJ, Abels J, Stekette J, Van Vliet H, Vuzevski V. Erythromelalgia caused by platelet-mediated arteriolar inflammation and thrombosis in thrombocythemia. Ann Intern Med 1985;102:466
58. Van Genderen PJJ, Michiels JJ. Erythromelalgia: A pathognomic microvascular thrombotic complication in essential thrombocythemia and polycythemia vera. Semin Thromb Hemost 1997;23:357-364
59. Ravandi-Kashani F, Schaffer AI. Microvascular disturbances, thrombosis, and bleeding in thrombocythemia: Current concepts and perspectives. Semin Thromh Hemost 1997;23: 479-488
60. Griesshammer M, Bongerter M, Van Vliet HM DM, Michiels JJ. Aspirin in essential thrombocythemia: Status quo and quo vadis. Semin Thromb Hemost 1997;23:371-378
61. Michiels JJ, ten Cate FW, Vuzeuski VD, Abels J. Histopathology of erythromelalgia in thrombocythemia. Histopathology 1984; 8:669-678
62. Wehmeier A, Sudhoff T, Meierkord F. Relation of platelet abnormalities to thrombosis and hemorrhage in chronic myeloproliferative disorders. Semin Thromb Hemost 1997;23:391-402
63. Kondo T, Okabe M, Sanada M, et al. Familial essential thrombocythemia associated with one-base deletion in the 5′-untranslated region of the thrombopoietin gene. Blood 1998;92: 1091-1096
64. Rudde U, von Genderen PJJ. Acquired von Willebrand disease in patients with high platelet counts. Semin Thromb Hemost 1997;23:425-432
65. Preston FE, Emmanuel IG, Winfield DA, Malia RG. Essential thrombocythemia and peripheral gangrene. Br Med J 1974;iii:548-552
66. Koudstaal PJ, Koudstaal A. Neurologic and visual symptoms in essential thrombocythemia: Efficacy of low-dose aspirin. Semin Thromb Hemost 1997;23:365-370
67. Millard FE, Hunter CS, Anderson M, et al. Clinical manifestations of essential thrombocythemia in young adults. Am J Hematol 1990;33:27-31
68. Bellucci S, Janvier M, Tobelem G, et al. Essential thrombocythemia. Cancer 1986;58:2440
69. Schrör K. Aspirin and platelets: The antiplatelet effect of aspirin and its role in thrombosis treatment and prophylaxis. Semin Thromb Hemost 1997;23:349-356
70. Frenkel EP. Myeloproliferative disorders: Polycythemia vera, thrombocythemia and myelofibrosis. In: Kelly W, ed. Textbook of Internal Medicine. 3rd ed. Philadelphia: Lippincott; 1997:1388-1392
71. Snethlage W, ten Cate JW, Thrombocythemia and recurrent late abortions. Normal outcome of pregnancies after anti-aggregatory treatment. Br J Obstet Gynaecol 1986;93:386
72. Falconer J, Pineo G, Blahey W. Essential thrombocythemia associated with recurrent abortions and fetal growth retardation. Am J Hematol 1987;25:345-347
73. Mercer B, Drovin J, Jolly E, di'Anjou G. Primary thrombocythemia in pregnancy. A report of two cases. Am J Obstet Gynecol 1988;159:127
74. Frenkel EP, Skinner W, Smilay JD, Studies on the metabolic defect induced by hydroxyurca and its relationship to megaloblastosis. Cancer Res 1967;27:1016
75. Frenkel EP, Arthur C. Induced ribotide reductive conversion defect by hydroxyurea and its relationship to megaloblastosis. Cancer Res 1967;27:1016-1019
76. Bergsagel DE, Frenkel EP, Alfrey CP, Thurman WG. Megaloblastic erythropoiesis induced by hydroxyurea. Cancer Chemother Reports 1964;40:15-18
77. Anker-Lugtenberg PJ. Myelodysplastic syndrome and secondary acute leukemia after treatment of essential thrombocythemia with hydroxyurea. Am J Hematol 1990;33:152
78. Sterkers Y, Preudhomme C, Lai JL, et al. Acute myeloid leukemia and myelodysplastic syndromes following essential thrombocythemia treated with hydroxyurea: High proportion of cases with 17 p deletion. Blood 1998;91:616-621
79. Cortelazzo S, Viero P, Finazzi G, et al. Incidence and risk factors or thrombotic complications in a historical cohort of 100 patients with essential thrombocythemia. J Clin Oncol 1990;8: 556-562
80. Hehlmann R, Jahn M, Baumann B, Kopeke W. Essential thrombocythemia. Cancer 1988;61:2487-2496
81. Fenaux P, Simon M, Caulier MT, et al. Clinical course of essential thromhocythemia in 147 cases. Cancer 1990;66: 549-556
82. Giles FJ, Ozer H. Alpha-interferon in hematological malignancies. Curr Opin Biotechnol 1991;2:874-850
83. Chott A, Gisslinger H, Thiele J, et al. interferon-alpha-induced morphological changes of megakaryocytes: A histomorphometrical study on bone marrow biopsies in chronic myeloproliferative disorders with excessive thrombocytosis. Br J Haematol 1990;74:10
84. Gisslinger H, Linkesch W, Fritz E, et al. Long term interferon therapy for thrombocytosis in mycloproliferative diseases. Lancet 1989;1:634-637
85. Elliott MA, Tefferi A. Interferon therapy in polycythemia vera and essential thrombocythemia. Semin Thromb Hemost 1997; 23:463-472
86. Petit JJ, Callis M, deSevilla AF. Normal pregnancy in a patient with essential thrombocythemia treated with interferon. Am J Hematol 1992;40:80. Letter
87. Gillespie E, Anagrelide: A potent and selective inhibitor of platelet cyclic AMP phosphodiesterase enzyme activity, Biochem Pharmacol 1988;37:2866-2868
88. Andes WA, Noveck RJ, Fleming JS. Inhibition of platelet production induced by an antiplatelet drug, anagrelide, in normal volunteers. Thromb Haemost 1984;52:325-328
89. Silverstein MN, Petit RM, Solberg LA Jr, et al. Anagrelide. A new drug for treating thrombocytosis. N Engl J Med 1988; 318:1292-1294
90. Anagrelide Study Group. Anagrelide. A therapy for thrombocythemic states: Experience in 577 patients. Am J Med 1992; 92:69-76
91. Tefferi A, Elliott MA, Solberg LA Jr, Silverstein MN. New drugs in essential thrombocythemia and polycythemia vera. Blood Rev 1997;11:1-7
92. Tefferi A, Silverstein MN, Petitt RM, Mesa RA, Solberg LA. Anagrelide as a new platelet-lowering agent in essential thrombocythemia: Mechanism of action, efficacy, toxicity, current indications. Semin Thromb Hemost 1997;23:379-384