Recurrent Thrombosis in a Patient with Pseudohomozygous Activated Protein C Resistance and Homozygosity for MTHFR Gene Polymorphism C677T

• References

• 1 Hillarp A, Dahlbäck B, Zöller B. Activated protein C resistance: from phenotype to genotype and clinical practice. Blood Rev 1995; 9: 201-12.
• 2 Simioni P, Scudeller A, Radossi P, Gavasso S, Girolami B, Tormene D, Girolami A. “Pseudohomozygous” activated protein C resistance due to double heterozygous factor V defects (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: 422-26.
• 3 Zehnder JL, Jain M. Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency. Blood Coagul Fibrinolysis 1996; 7: 361-2.
• 4 Casterman G, Lunghi B, Missiaglia E, Bernardi F, Rodeghiero F. Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V. Br J Haematol 1997; 99: 257-61.
• 5 Girolami A, Simioni P, Scarano L, Girolami B, Marchiori A. Haemorrhagic and thrombotic disorders due to factor V deficiencies and abnormalities: an updated classification. Blood Rev 1998; 12: 45-51.
• 6 Zighetti ML, Cattaneo M, Tsai MY, Bucciarelli P, Taioli E, Bignell M, Mannucci PM. A common mutation in the methylene-tetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutant factor V (factor V:Q⁵⁰⁶ ). Thromb Haemost 1997 Supplement 570.
• 7 Morse C, Standen G. Specificity of ‘clotting’ methods for factor V Leiden. Br. J Haematol 1996; 95: 432-433.