Summary
In a family with a known antithrombin III abnormality (AT III Trento) an associated von Willebrand defect (Type I) was found. The two defects seem to segregate independently. In fact four types of individuals were present, namely: subjects with isolated AT III abnormality, subjects with isolated von Willebrand defect, patients with double defect and normal subjects. Only one of the two patients with isolated AT III abnormality showed a thrombotic tendency. None of the patients with double defect showed thrombotic disease, indicating a possible protective action of the von Willebrand defect against thrombotic manifestations. Patients with isolated von Willebrand defect showed neither thrombotic nor bleeding manifestations. The study emphasizes the need for a careful evaluation of the hemostatic balance of patients with AT III abnormalities before concluding that they are symptomatic or asymptomatic.
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References
Abildgaard U, Lie M, Ødegard OR (1977) Antithrombin (heparin cofactor) assay with ‘new’ chromogenic substrates (S-2238 and Chromozym-TH). Thromb Res 11: 549
Blombäck M, Blombäck B, Olsson P, Svendsen L (1974) The assay of antithrombin using a synthetic chromogenic substrate for thrombin. Thromb Res 5: 621
Clarke HGM, Freeman T (1968) Quantitative immunoelectrophoresis of human serum protein. Clin Sci 35: 403
Egeberg O (1965) Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 13: 516
Girolami A, Venturelli P, Cella G, Virgolini L, Burul A (1976) Combined hereditary deficiency of factor VII and factor VIII. A distinct coagulation disorder due to the lack of an autosomal gene controlling factor VII and VIII activation. Acta Haematol 35: 181–191
Girolami A, Gastaldi G, Patrassi GM, Galletti A (1976) Combined congenital deficiency of factor V and factor VIII. Report of a further case with some considerations on the hereditary transmission of this disorder. Acta Haematol 55: 234–243
Girolami A, Fabris F, Dal Bo Zanon R, Ghiotto G, Burul A (1978) Factor VII Padua: a coagulation disorder due to an abnormal factor VII with a peculiar activation pattern. J Lab Clin Med 91: 387
Girolami A, Coccheri S, Polareti G, Poggi M, Burul A, Cappellato G (1978) Prothrombin Molise: a “new” congenital dysprothrombinemia: double heterozygosis with an abnormal prothrombin and true prothrombin deficiency. Blood 52: 115 (1978)
Girolami A, Patrassi GM, Vianello C, Pengo V (1981) Abnormal migration of serum antithrombin III in patients on coumarin therapy by cross-immunoelectrophoresis. Br J Haematol 49: 490
Girolami A, Pengo V, Patrassi GM, Cappellato G, Vianello C, Cartei L (1983) Antithrombin III Padua: a “new” congenital antithrombin III abnormality with normal activity, normal antigen, abnormal migration and no thrombotic disease. Folia Haematol 110: 98
Girolami A, Fabris F, Cappellato G, Sainati L, Boeri G (1983) Antithrombin III (AT III) Padua2: a new congenital abnormality with defective heparin-co-factor activities but no thrombotic disease. Blut 46: 1
Girolami A, Marafioti F, Rubertelli M, Vicarioto M, Cappellato G, Mazzucato M (1984) Antithrombin III Trento. A “new” congenital antithrombin III abnormality with a peculiar crossed-immunoelectrophoretic pattern in the absence of heparin. Acta Haematol 72: 71–82
Laurell CB (1966) Quantitative estimation of proteins by electrophoresis in agarose gels containing antibodies. Analyt Biochem 15: 45
Mackie M, Bennet B, Ogston D, Douglas AS (1978) Familial thrombosis: inherited deficiency of antithrombin III. Br Med J 1: 136
Marciniak E, Farley CH, De Simone PA (1974) Familial thrombosis due to antithrombin deficiency. Blood 43: 219
Matsuo T, Ohki Y, Kondo S, Matsuo O (1979) Familial antithrombin III deficiency in a Japanese family. Thromb Res 16: 815
Mc Farlane DF, Stillice J, Kirlsy EP, Zucker M, Grant RA, Mc Pherson J (1975) A method for assaying von Willebrand factor (Ristocetin cofactor). Thromb Diath Haemorrh 34: 306
Nagy I, Losonczy H (1979) There types of hereditary antithrombin III deficiency. Thromb Haemostas 42: 187
Ødegard OR, Lie M, Abildgaard U (1975) Heparin cofactor activity measured with amidolytic method. Thromb Res 6: 287
Ødegard OR, Abildgaard U (1976) Antifactor Xa activity measured with amidolytic method. Haemostasis 5: 265
Penner JA, Hassonns H, Hunter MJ, Cheokley M (1979) A clinically silent antithrombin III defect in an Ann Arbor family. Thromb Haemostas 42: 186
Prochownik EV, Antonarakis S, Bauer KA, Rosemberg RD, Fearon ER, Orkin SN (1983) Molecular heterogeneity of inherited antithrombin III deficiency. N Eng J Med 308: 1549
Ruggeri ZM, Zimmermann TS (1980) The complex multimeric composition of factor VIII-von Willebrand factor. Blood 57: 1140
Sas G, Blasko G, Bànhegyi D, Jako J, Palos LA (1974) Abnormal antithrombin III (Antithrombin III Budapest) as a cause of a familial thrombofilia. Thromb Diath Haemorrh 32: 105
Winter JM, Bennett B (1983) Factors influencing thrombosis in familial antithrombin III deficiency. Br J Haematol 53: 527
Wolf M, Boyer C, Lavergne JM, Larrien MJ (1982) A new familial variant of antithrombin III: antithrombin III Paris. Br J Haematol 51: 285
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This study was supported by Grants from the CNR (Grant 84.02363.56 II 5.01677), from the M. P. I. Rome (Grant 1592–1984) and from the Veneto Region, Venice, Italy
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Girolami, A., Cappellato, M.G., Vicarioto, M.A. et al. Associated von Willebrand disease as a possible cause of lack of thrombosis in an AT III abnormality (AT III Trento). Blut 52, 29–33 (1986). https://doi.org/10.1007/BF00320139
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DOI: https://doi.org/10.1007/BF00320139