The Effect of Combined Factor XI Deficiency with von Willebrand Factor Abnormalities on Haemorrhagic Diathesis

Summary

To account for the lack of correlation between the level of factor XI (FXI) in deficient patients and haemorrhagic manifestations, we correlated the prevalence of combined FXI and von Willebrand’s factor (vWF) deficiency in 212 FXI-deficient patients. Fifty-four patients had a combined FXI and vWF deficiency: 16 patients had severe and 38 patients had mild FXT deficiency. In a group of 28 patients with comparably mild FXI deficiency, 14 bleeders had significantly lower mean vWF, Ag, ristocetin cofactor and ristocetin induced platelet aggregation than 14 non-bleeders selected on the basis of comparable FXI levels. These findings suggest that the combination of FXI and vWF deficiency is common and may affect the bleeding tendency in mild FXI deficiency.

Keywords

FXI-deficiency - vWF - Combined factor deficiency

• References

• 1 Rosenthal RL, Dreskin OH, Rosenthal N. New hemophilic-like disease caused by deficiency of a third plasma thromboplastin factor. Proc Soc Exp Biol Med 1953; 82: 171-174
• 2 Rapaport SI, Proctor RR, Patch MJ, Yettra M. The mode of inheritance of PTA deficiency: evidence for the existence of major PTA deficiency and minor PTA deficiency. Blood 1961; 18: 149-165
• 3 Leiba H, Ramot B, Many A. Heredity and coagulation studies in ten families with factor XI (plasma thromboplastin antecedent) deficiency. Br J Haematol 1965; 11: 654-665
• 4 Nossel HL, Niemetz J, Mibashan RS, Schulze WG. The measurement of factor XI (plasma thromboplastin antecedent). Diagnosis and therapy of congenital deficiency state. Br J Haematol 1966; 12: 133-144
• 5 Seligsohn U. High gene frequency Of factor XI (PTA) deficiency in Ashkenazi Jews. Blood 1978; 51 (06) 1223-1238
• 6 Egeberg O. A family with antihemophilic C factor (AHC Plasma Thromboplastin Antecedent) deficiency without bleeding tendency. Scand J Clin Lab Invest 1962; 14: 478-486
• 7 Ragni MV, Sinha D, Seaman F, Lewis JH, Spero JA, Walsh PN. Comparison of bleeding tendency, factor XI coagulant activity and factor XI antigen in 25 factor Xl-deficient kindreds. Blood 1985; 65: 719-724
• 8 Rosenthal RL, Dreskin OH, Rosenthal N. Plasma thromboplastin antecedent (PTA) deficiency: clinical, coagulation, therapeutic and hereditary aspects of a new hemophilia-like disease. Blood 1955; 10: 120-131
• 9 Litz CE, Swain WR, Dalmasso AP. Factor XI deficiency: genetic and clinical studies of a single kindred. Am J Hematol 1988; 28: 8-12
• 10 Rimon A, Schifman S, Feinstein DI, Rapaport SI. Factor XI activity and factor XI antigen in homozygous and heterozygous factor XI deficiency. Blood 1976; 48: 165-174
• 11 Schifman S, Rimon A, Rapaport SI. Factor XI and platelets; evidence that platelets contain only minimal FXI activity and antigen. Br J Haematol 1977; 35: 429-436
• 12 Saito H, Goldsmith Jr GH. Plasma thromboplastin anticedent (PTA, Factor XI): a specific and sensitive radioimmunoassay. Blood 1977; 50: 377-385
• 13 Rodcghicro F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand’s disease. Blood 1987; 69: 454-459
• 14 Tavori S, Tatarsky I. Additional variant of Type I von Willebrand Disease. Am J Hematol 1987; 24: 189-197
• 15 Austen DE G, Rhymes IL. A Laboratory Manual of Blood. Blackwell Scientific Publications; 1975
• 16 Frick PH, Bachmann F, Duckert F. Vascular anomaly associated with plasma thromboplastin antecedent deficiency. J Lab Clin Med 1959; 54: 680-684
• 17 Perry S, Opfell R, Baker M. Combined deficiencies of PTA and AHG with vascular fragility. Blood 1960; 16: 1184-1198
• 18 Winter M, Needham J, Barkhan P. Factor XI deficiency and a platelet defect. Haemostasis 1983; 13: 83-88
• 19 Chediak J, Lambert E, Johnson EI, Telfer MC. Combined severe factor XI deficiency and von Willebrand’s disease. Am J Clin Pathol 1980; 74: 108-14
• 20 Bolton-Maggs PH B, Wan-Yin Y, McCraw AH, Slack J, Kernoff PB A. Inheritance and bleeding in factor XI deficiency. Br J Haematol 1988; 69: 521-528