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Thromb Haemost 1974; 32(02/03): 538-548
DOI: 10.1055/s-0038-1647722
DOI: 10.1055/s-0038-1647722
Original Article
Severe Factor V Deficiency with Prolonged Bleeding Time
Authors
Further Information
Publication History
Received
12 June 1974
Accepted
11 July 1974
Publication Date:
30 June 2018 (online)
Summary
A patient with two congenital defects, i.e. a severe factor V deficiency and an aortic coarctation is described. Arguments for a dominant mode of inheritance of the factor V deficiency are presented. A coinciding haemostatic defect consisting of a prolonged bleeding time, which could be corrected by fresh plasma and cryoprecipitate, and a decreased platelet retention in the glass bead test disappeared after surgical correction of the coarctation.
Extensive platelet studies failed to show any further defect.
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References
- 1 Alexander B. R, Goldstein R. 1952; Parahaemophilia in three siblings (Owren’s disease) with studies on certain plasma components affecting prothrombin conversion. American Journal of Medicine 13: 255.
- 2 Biggs R. 1972. Human Blood Coagulation, Haemostasis and Thrombosis. 1st. edn. Blackwell Scientific Publications. Oxford: 307.
- 3 Booyse F. M, Hoveke I. P, Rafelson M. E. 1968; Studies of human platelets protein synthetic activity of various platelet populations. Biochimica et Biophysica Acta 157: 660.
- 4 Borchgrevink C. F, Owren P. A. 1961; Surgery in a patient with factor V deficiency. Acta medica Scandinavica 170: 743.
- 5 Borchgrevink C. F, Pool J. G, Stormorken H. 1960; A new assay for factor Y (proaccelerin-accelerin) using Russel’s viper venom. Journal of Laboratory and Clinical Medicine 55: 625.
- 6 Botjma B. N. 1971; A modification of immunochemical determination of splitproducts described by Niléhn. Scandinavian Journal of Haematology Suppl. XIII, 391.
- 7 Bouma B. N. 1972; Immunological characterization of purified antihaemophilic factor A (factor VIII), which corrects abnormal platelet retention in Yon Willebrand’s Disease. Nature New Biology 236: 104.
- 8 Bowie E. J.W, Thompson Jr. J. H, Didisheim P, Owen Jr. C.A. 1967; Disappearance rates of coagulation factors: transfusion studies in factor deficient patients. Transfusion 07: 174.
- 9 ten Cate J. W. 1971 Platelet functions in relation to haemostasis. Thesis. Amsterdam..
- 10 ten Cate J. W, van Haeringen N. J, Gerritsen J, Glasius E. 1973; Biological activity of a semisynthetic Flavonoid, 0 (ß-Hydroxyethyl)-rutoside: light scattering and metabolic studies of human red cells and platelets. Clinical Chemistry 19: 31.
- 11 ten Cate J. W, de Yries S. I, Sixma J. J, van Berkel W. 1971; Defective collagen-induced platelet aggregation in a normal population. Thrombosis et Diathesis Haemorrhagica 25: 234.
- 12 ten Cate J. W, de Yries S. I, Sixma J. J, van Berkel W. 1972; Reproducibility and normal values of various platelet function tests. Folia Medica Neerlandia 15: 10.
- 13 Coller B. G, Zucker M. B. 1971; Reversible decrease in platelet retention by glass bead columns (adhesiveness) induced by disturbing the blood. Proceedings of the Society of Experimental and Biological Medicine 136: 769.
- 14 Duckert F, Jung E, Schmerling D. H. 1960; A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. Thrombosis et Diathesis Haemorrhagica 05: 179.
- 15 Feissly R, Lüdin H. 1949; Action of cocain on blood platelets. Helvetia Physiologica Pharmacologica Acta 07: 69.
- 16 Frank E, Bilhan N, Ekren H. 1950; Die Parahämophilie (Owren), eine neue Form der hämorrhagischen Diathese. Acta haematologica 03: 70.
- 17 Friedman I. A, Quick A. J, Higgins F, Hussey C. Y, Hickey M. E. 1961; Hereditary labile factor (factor V) deficiency. Journal of the American Medical Association 175: 370.
- 18 Haanen C. 1971. Bloedstelping en bloedstollingsonderzoeh. Scheltema &. Holkema; Amsterdam.:
- 19 Horowitz H. I, Wilcox W. P, Fujimoto M. M. 1963; Assay of plasma thromboplastin antecedent (PTA) with artificially depleted normal plasma. Blood 22: 35.
- 20 Hummel K. 1961. Die medizinische Vaterschaftsbegutachtung mit biostatistischem Beweis. G. Fischer; Stuttgart.:
- 21 IvERSEN T, Bastrup-Madsen P. 1956; Congenital familial deficiency of factor Y (parahaemophilia) combined with deficiency of antihaemophilic globulin. British Journal Haematology 02: 265.
- 22 Kag-ami M, Morita H. 1966; Parahaemophilia: the report of one family from Japan. Acta haematologica 35: 102.
- 23 Kaneshiro M. M, Mielke Jr. C. H, Kasper C. K. 1969; Bleeding time after aspirin in disorders of intrinsic clotting. New England Journal of Medicine 281: 1039.
- 24 von Kaulla K. N, Schultz R. L. 1958; Method for the evaluation of human fibrinolysis. American Journal of Clinical Pathology 29: 104.
- 25 Kingsley C. S. 1954; Familial factor V deficiency: the pattern of heredity. Quarterly Journal of Medicine, New Series 23: 233.
- 26 Loos J. A, Prins H. K. 1970; A mechanized system for the determination of ADP & ATP, 2, 3-diphosphoglycerate, glucose-1, 6-diphosphate, a-lactate in small amounts of blood-cells. Biochimica et Biophysica Acta 201: 185.
- 27 Lopez V, Pflugshaupt R, Wirthner H, Bütler R. 1969; Hereditärer factor y Mangel (Parahämophilie) in einer Schweizer Familie. Schweizerische Medizinische Wochenschrift 99: 1354.
- 28 Lowry O. H, Rosebroug-h N. J, Lewis Farr A, Randall R. J. 1951; Protein measurement with the Folin phenol reagent. Journal of Biological Chemistry 193: 265.
- 29 Margolis J. 1958; The kaolin clotting time. Journal of Clinical Pathology 02: 406.
- 30 Maurer H. M, McCue C. M, Caul J, Still W. J.S. 1972; Impairment in platelet aggregation in congenital heart disease. Blood 40: 207.
- 31 McKenzie et al. 1969; Blood platelet behaviour during and after open-heart surgery. British Medical Journal 02: 795.
- 32 Melliger E. J, Duckert F. 1971; Major surgery in a subject with factor Y deficiency. Cholecystectomy in a parahaemophilic woman and a review of literature. Thrombosis et Diathesis Haemorrhagica 25: 438.
- 33 Mielke Jr. C. H, Britten A. F. 1970; Use of aspirin or acetaminophen in haemophilia. New England Journal of Medicine 282: 1270.
- 34 O’Brien J. R, Etherington M, Jamieson S. 1970; Refractory state of platelet aggregation with major operations. Lancet 02: 741.
- 35 O’Neill B. J, Hutton R. A. 1966; Prolonged bleeding time in congenital heart disease. Journal of Clinical Pathology 19: 99.
- 36 Owen Jr. C. A, Cooper T. 1955; Parahaemophilia. Archives of Internal Medicine 95: 194.
- 37 Owren P. A. 1959; Thrombotest : A new method for controlling anticoagulant therapy. Lancet 02: 754.
- 38 Quick A. J. 1935; The prothrombin in haemophilia and in obstructive jaundice. Journal of Biological Chemistry 73: 109.
- 39 Rizza C. R. 1972. The clinical features of clotting factor deficiencies. In: Biggs R. (ed.) Human Blood Coagulation, Haemostasis and Thrombosis. 1st. edn. Blackwell Scientific Publications. Oxford; 213.
- 40 van Royen E. A. 1974 Thesis in preparation. Amsterdam..
- 41 Rozenberg M. C, Holmsen H. 1968; Adenine nucleotide metabolism of blood platelets. IV platelet aggregation response to exogenous ATP and ADP. Biochimica et Biophysica Acta 157: 281.
- 42 Rush B, Ellis H. 1965; The treatment of patients with factor Y deficiency. Thrombosis et Diathesis Haemorrhagica 14: 74.
- 43 Salzman E. W. 1963; Blood platelets and extracorporal circulation. Transfusion 03: 274.
- 44 Smit-Sibinga C. T.h, Gökemeyer J. D.M, ten Kate L. P, Zwol Bos-Yan F. 1972; Combined deficiency of factor Y and factor YIII: report of family and genetic analysis. British Journal of Haematology 23: 467.
- 45 Soulier J. P, Prou-Wartelle O, Weilland C, Ménaché D. 1958; Deficit congenital en Proaccélérine (facteur Y). Quelques données nouvelles. Thrombosis et Diathesis Haemorrhagica 02: 250.
- 46 Strengers T. h, Asberg E. G.M. 1963; Een screening test, gevolgd door een snelle kwantitatieve microbepaling van fibrinogeen in plasma. Nederlands Tijdschrift voor Geneeskunde 107: 2044.
- 47 Veltkamp J. J, Drion E. F, Loeliger E. A. 1968; Detection of a carrier state in hereditary coagulation disorders. Thrombosis et Diathesis Haemorrhagica 19: 279.
- 48 de Vries A, Mathot Y, Shamir Z. 1951; Familial congenital labile factor deficiency with syndactylism. Acta haematologica 05: 129.
- 49 de Vries S. I. 1968; Haemorrhagische diathese door tekort aan factor V (proaccelerine). Nederlands Tijdschrift voor Geneeskunde 112: 741.
- 50 Waaler B. A. 1957; Simultaneous contribution to the formation of thrombin by the intrinsic and extrinsic blood clotting systems. Scandinavian Journal of Clinical Laboratory Investigation 09: 322.