New Families with Factor XII Deficiency

Summary

Hereditary factor XII deficiency is reported in 2 unrelated Norwegian families.

Case 1 was a 50 year old female, who was investigated because of a subcutaneous hematoma of unexplained cause. She had bruised easily, but neither she nor members of her family had suffered from definite and marked bleeding tendency. In the last years she had had hemoptyses of unknown cause. Five years ago she had a slight cerebral vascular episode with temporary hemiparesis in extremities. A sister had died 46 year old in cerebral apoplexy. The parents were first cousins.

Case 2 was a 72 year old male. He had no definite history of bleeding tendency, neither had members of his family. He suffered from diabetes, hypertension and vascular encephalopathy. After the age of 67 he had several attacks of cerebral apoplexy with paresis of extremities, ataxia and parkinsonism.

Blood factor XII was for both case 1 and case 2 found lower than 1% of normal average, while other coagulation factors were in the main normal. A probable partial factor XII deficiency was demonstrated in some of the relatives of case 1 and case 2, consistent with the hypothesis that the principal patients were homozygous for their coagulation abnormality.

The study lends some support to a hypothesis that a factor XII defect might contribute to a hemostatic disorder, and especially to an increased risk for cerebral apoplexy.

• References

• 1 Ratnoff O. D, Colopy J. E. A familial hemorrhagic trait associated with a deficiency of a clot-promoting fraction of plasma. J. clin. Invest 34: 602 1955;
• 2 Waaler B. A. Contact activation in the intrinsic blood clotting system. Scand. J. clin. Lab. Invest. 11, Suppl. 37 1959
• 3 Egeberg O. Factor XII defect and hemorrhage. Evidence for a new type of hereditary hemostatic disorder. Thrombos. Diathes. haemorrh. (Stuttg.) 23: 432 1970;
• 4 Borchgrevink G. F, Waaler B. A. The secondary bleeding time. Acta med. scand 162: 361 1958;
• 5 Nyegaard K. Direct method of counting platelets in oxalated blood. Proc. Mayo Clin 8: 365 1933;
• 6 Stefanini M, Dameshek W. The hemorrhagic disorders. A clinical and therapeutic approach. Grune & Stratton; New York: 1955
• 7 Voss D. Untersuchungen zur Gerinnsel-Retraktion. Proc. VIIth Congress of the International Society of Haematology 346 1958
• 8 Hjort P. F, Stormorken H. A study of the in vitro and in vivo effects of a synthetic heparin-like anticoagulant: dextran sulphate. Scand. J. clin. Lab. Invest. 9 Suppl. 29 1957
• 9 Egeberg O. Assay of antihemophilic A, B and C factors by one-stage cephalin systems. Scand. J. clin. Lab. Invest 13: 140 1961;
• 10 Owren P. A, Aas K. The control of dicoumarol therapy and the quantitative determination of prothrombin and proconvertin. Scand. J. clin. Lab. Invest. : 3: 201 1951;
• 11 Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thrombos. Diathes. haemorrh. (Stuttg.) 13: 516 1965;
• 12 Jacobsson K. Studies on the determination of fibrinogen in human blood plasma. Scand. J. clin. Lab. Invest. 7, Suppl. 14 1955
• 13 Hjort P. F, Rapaport S. I, Owren P. A. A simple one-stage prothrombin assay using Russell’s viper venom in cephalin suspension. J. Lab. clin. Med 46: 89 1955;
• 14 Owren P. A. The coagulation of blood. Investigations on a new clotting factor. Acta med. scand. 128, Suppl. 194 1947
• 15 Aas K. Prokonvertin og konvertin. Thesis p. 21. Acad. Trykningssentral; Oslo: 1952
• 16 Egeberg O. New families with hereditary hemorrhagic trait due to deficiency of fibrin stabilizing factor (F XIII). Thrombos. Diathes. haemorrh. (Stuttg.) 20: 534 1968;
• 17 Astrup T, Müllertz S. The fibrin plate method for estimating fibrinolytic activity. Arch. Biochem 40: 346 1952;
• 18 Egeberg O. Acquired circulating anticoagulant in classical hemophilia. Scand. J. clin. Lab. Invest 13: 535 1961;
• 19 Biggs R, Sharp A. A, Margolis J, Hardisty R. M, Stewart J, Davidson W. M. Defects in the early stages of blood coagulation. A report of four cases. Brit. J. Haemat 4: 111 1958;
• 20 Bok J, Veitkamp J. J, Loeliger E. A. Moderate factor XII deficiency. Thrombos. Diathes. haemorrh. (Stuttg.) 13: 8 1965;
• 21 Haanen C, Hommes F, Benraad H, Morselt G. A case of Hageman factor deficiency and a method to purify the factor. Thrombos. Diathes. haemorrh. (Stuttg.) 5: 201 1961;
• 22 Nossel H. L. Hageman factor in man. In: Recent advances in blood coagulation. 39 Ed.: Poller L. London: 1969
• 23 Didisheim P. Hageman factor deficiency. Arch, intern. Med 110: 170 1962;