Familial thrombophilia: Clinical and molecular analysis of Swedish families with inherited resistance to activated protein C or protein S deficiency

Scandinavian Journal of Clinical and Laboratory Investigation, Supplement

Volumn 56, Issue 226, 1996, Pages 19-46

  Zöller, Bengt ^a  

^a LUND UNIVERSITY   (Sweden)

Author keywords

APC resistance; coagulation; factor V; linkage; mutation; protein C; protein S; thrombosis

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5; PROTEIN C;

FAMILIAL DISEASE; FAMILY; GENE LOCUS; HEREDITY; HUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN S DEFICIENCY; REVIEW; SWEDEN; THROMBOPHILIA; ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD CLOTTING DISORDER; CHILD; GENETICS; HAPLOTYPE; INFANT; METABOLISM; MIDDLE AGED; NEWBORN; PATHOPHYSIOLOGY; PRESCHOOL CHILD; THROMBOSIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BLOOD COAGULATION DISORDERS; CHILD; CHILD, PRESCHOOL; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; MIDDLE AGED; PROTEIN C; PROTEIN S DEFICIENCY; SWEDEN; THROMBOSIS;

EID: 0030478027     PISSN: 0085591X     EISSN: None     Source Type: Journal    
DOI: 10.3109/00365519609168297     Document Type: Review

References (15)

1. Furie B, Furie BC. The molecular basis of blood coagulation. Cell 1988;53:505-18.
2. Davie EW. Biochemical and molecular aspects of the coagulation cascade. Thromb Haemost 1995;74:1-6.
3. Hirsh J, Hull RD, Raskob GE. Epidemiology and pathogenesis of venous thrombosis. J Am Coll Cardiol 1986;8: 104B-13B.
4. Collen D, Lijnen HR. Molecular basis of fibrinolysis, as relevant for thrombolytic therapy. Thromb Haemost 1995;74:167-71.
5. Lane DA, Olds RJ, Thein SL. Antithrombin and its deficiency. In: Bloom AL, Forbes CD, Thomas DP, Tuddenhamn EGD, eds. Haemostasis and Thrombosis, 3rd ed. Edinburgh: Churchill Livingstone, 1994:655-70.
6. Broze GJ, Tollefsen DM. Regulation of blood coagulation by protease inhibitors. In: Stamatoyannopoulos G, Nienhuis AW, Majerus PW, Varmus H, eds. The molecular basis of blood diseases, Philadelphia: W.B. Saunders, 1994:629-56.
7. Dahlbäck B, Stenflo J. The protein C anticoagulant system. In: Stamatoyannopoulos G, Nienhuis AW, Majerus PW, Varmus H, eds. The molecular basis of blood diseases, Philadelphia: W.B. Saunders, 1994:599-628.
8. Goldhaber SZ. Epidemiology of pulmonary embolism and deep vein thrombosis. In: Bloom AL, Forbes CD, Thomas DP, Tuddenham EGD, eds. Haemostasis and Thrombosis, 3rd ed. Edinburgh: Churchill Livingstone, 1994:1327-33.
9. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thrombosis et Diathesis Haemorrhagica 1965;13:516-30.
10. Griffin JH, Evatt BL, Zimmerman TS, Kleiss AJ, Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981;68:1370-3.
11. Comp PC, Esmon CT. Recurrent thromboembolism in patients with a partial deficiency of protein S. N Engl J Med 1984; 311:1525-8.
12. Heijboer H, Brandjes D, Büller HR, Sturk A, ten Gate JW. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. N Engl J Med 1990;23:1512-6.
13. Malm J, Laurell M, Nilsson IM, Dahlbäck B. Thromboembolic disease - critical evaluation of laboratory investigation. Thromb Haemost 1992;68:7-13.
14. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993;90:1004-8.
15. Griffin JH, Evatt BL, Wideman C, Fernandez JA. Anticoagulant protein C pathway defective in a majority of thrombophilic patients. Blood 1993;82:1989-93.