The Enigma of Severe Factor XI Deficiency without Hemorrhagic Symptoms

J. R Edson; J. G White; W Krivit

doi:10.1055/s-0038-1655041

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1967; 18(03/04): 342-348
DOI: 10.1055/s-0038-1655041

Originalarbeiten — Original Articles — Travaux Originaux

Schattauer GmbH

The Enigma of Severe Factor XI Deficiency without Hemorrhagic Symptoms

Distinction from Hageman Factor and “Fletcher Factor” Deficiency; Family Study; and Problems of Diagnosis

Authors

J. R Edson M. D.

¹Departments of Laboratory Medicine and Pediatrics, University of Minnesota School of Medicine, Minneapolis, Minnesota 55455
J. G White M. D.

¹Departments of Laboratory Medicine and Pediatrics, University of Minnesota School of Medicine, Minneapolis, Minnesota 55455
W Krivit M. D., PH. D.

¹Departments of Laboratory Medicine and Pediatrics, University of Minnesota School of Medicine, Minneapolis, Minnesota 55455

Abstract

Summary

A case of very severe P. T. A. deficiency without hemorrhagic symptoms is described, and the possibility that the absence of a bleeding diathesis may have an explanation in the presently unknown interrelationship between 3 “contact phase” coagulation factors is suggested. The existence of “Fletcher factor” deficiency as an entity distinct from factor XI and XII deficiency is confirmed. The problems in establishing a diagnosis of P. T. A. deficiency are discussed. The authors believe that assay using known congenitally deficient plasma is the only certain method of diagnosing P. T. A. deficiency. The 3 members of the propositus’s family have minor P. T. A. deficiency, and the mode of inheritance in this family is consistent with the hypothesis of Rapaport et al.

Volltext

Referenzen

References
1 Rapaport S. I, Proctor R. R, Patch M. J, Yettra M. The Mode of Inheritance of PTA Deficiency: Evidence for the Existence of Major PTA Deficiency and Minor PTA Deficiency. Blood 18: 149 1961;
2 Horowitz H. I, Wilcox W. P, Fujimoto M. M. Assay of Plasma Thromboplastin Antecedent (PTA) with Artificially Depleted Normal Plasma. Blood 22: 35 1963;
3 Leiba H, Ramot B, Many A. Heredity and Coagulation Studies in Ten Families with Factor XI (Plasma Thromboplastin Antecedent) Deficiency. Brit. J. Haemat. 11: 654 1965;
4 de Vries S. I, Braat-van-Straaten M. A. J. Hemorrhagic Diathesis as the Result of Severe Deficiency of Plasma Thromboplastin Antecedent (PTA, Factor XI). Thrombos. Diathes. haemorrh. (Stuttg) 11: 166 1964;
5 Bell W. N, Alton H. G. A brain extract as a substitute for platelet suspensions in the thromboplastin generation test. Nature (Lond) 174: 880 1954;
6 Waaler B. Contact Activation in the Intrinsic Blood-Clotting System. Scand. J. clin. Lab. Invest. 11 Suppl. 37 1959;
7 Gaston L. W, Evanger A. E. Requirement for calcium in the thromboplastin generation test. J. Lab. clin. Med. 64: 501 1964;
8 Rapaport S. I, Schiffman S, Patch M. J, Ware A. G. A Simple Specific One Stage Assay for Plasma Thromboplastin Antecedent Activity. J. Lab. clin. Med. 57: 771 1961;
9 Gaston L. W, Mach B. F, Beck W. S. Hemophilia A and Concurrent Factor VII Deficiency. New Engl. J. Med. 264: 1078 1961;
10 Bachman F, Duckert F, Koller F. The Stuart-Prower Factor Assay and Its Clinical Significance. Thrombos. Diathes. haemorrh. (Stuttg) 02: 24 1958;
11 Duckert F, Jung E, Schmerling D. H. Hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. Thrombos. Diathes. haemorrh. (Stuttg) 05: 179 1960;
12 Salzman E. W. Measurement of Platelet Adhesiveness. J. Lab. clin. Med. 62: 724 1963;
13 Spaet T. H, Cintron J. Studies of Platelet Factor-3 Availability. Brit. J. Haemat. 11: 269 1965;
14 Ivy A. C, Nelson D, Buches G. The Standardization of Certain Factors in the Cutaneous “Venostasis” Bleeding Time Technique. J. Lab. clin. Med. 26: 1812 1941;
15 Brecher G, Cronkite E. P. Morphology and Enumeration of Human Blood Platelets. J. appl. Physiol. 03: 365 1950;
16 Buckell M. The Effect of Citrate on Euglobulin Methods of Estimating Fibrinolytic Activity. J. clin. Path. 11: 403 1958;
17 Hathaway W. E, Beihasen L. P, Hathaway H. S. Evidence for a New Plasma Thromboplastin Factor I. Case Report, Coagulation Studies and Physicochemical Properties. Blood 26: 521 1965;
18 Nossel H. L. The Contact Phase of Blood Coagulation. Blackwell Scientific Publications; Oxford: 1964
19 Nossel H. L, Niemetz J, Mibashan R. S, Schulze W. G. The Measurement of Factor XI (Plasma Thromboplastin Antecedent). Brit. J. Haemat. 12: 133 1966;
20 Rosenthal R. L, Dreskin O. H, Rosenthal N. New Hemophilia-like Disease Caused by Deficiency of a Third Plasma Thromboplastin Factor. Proc. Soc. exp. Biol. (N. Y) 82: 171 1953;
21 Todd M, Wright I. S. Factor XI (P. T. A.) Deficiency with no Hemorrhagic Symptoms. Thrombos. Diathes. haemorrh. (Stuttg) 11: 186 1964;
22 Rosenthal R. L, Dreskin O. H, Rosenthal N. Plasma Thromboplastin Antecedent (PTA) deficiency: clinical, coagulation, therapeutic and hereditary aspects of a new hemophilia-like disease. Blood 10: 120 1955;