Zusammenfassung
Unter dem Begriff »Thrombophilie« werden diejenigen Störungen zusammengefasst, bei denen mit einem erhöhten Risiko für venöse Thrombosen und Embolien zu rechnen ist. Im Allgemeinen wird die Bezeichnung Thrombophilie für die Thromboseneigung des venösen Schenkels des Gefäßssystems verwendet; bei bestimmten Formen der Thrombophilie können jedoch auch gehäuft Thrombosen in der arteriellen Gefäßbahn auftreten, insbesondere in den Hirnarterien und Herzkranzgefäßen. Die Evaluierung der Thrombophilie in prospektiven und Interventionsstudien hat in den letzten Jahren zu einer wesentlich kritischeren Betrachtungsweise der Bedeutung der Thrombophilie für das klinische Management geführt. Durch die Diagnose einer Thrombophilie ändert sich nur bei ganz wenigen Patienten das diagnostische oder therapeutische Vorgehen.
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Literatur
Baglin T, Gray E, Greaves M, Hunt BJ, Keeling D, Machin S, Mackie I, Makris M, Nokes T, Perry D, Tait RC, Walker I, Watson H Clinical guidelines for testing for heritable thrombophilia (2010) Br J Haematol, in press
Baudo F, DeGasperi A, deCataldo F, Caimi TM, Cattaneo D, Redaelli R, Pannacciulli E, Corti A, Mazza E, Belli L (1992) Antithrombin III supplementation during orthotopic liver transplantation in cirrhotic patients: a randomized trial. Thromb Res 68:409–416
Bauersachs RM, Dudenhausen J, Faridi A, Fischer T, Fung S, Geisen U, Harenberg J, Herchenhan E, Keller F, Kemkes-Matthes B, Schinzel H, Spannagl M, Thaler CJ; EThIG Investigators (2007) Risk stratification and heparin prophylaxis to prevent venous thromboembolism in pregnant women Thromb Haemost 98:1237–1245
Bergmann F, Hoyer PF, Vigano D’Angelo S, Mazzola G, Oestereich C, Barthels M, D’Angelo A (1995) Severe autoimmune protein S deficiency in boy with idiopathic purpura fulminans. Br J Haemat 89:610–614
Bernard GR, Vincent JL, Laterre PF, LaRosa SP, Dhainaut JF, Lopez-Rodriguez A, Steingrub JS, Garber GE, Helterbrand JD, Ely EW, Fisher CJ Jr (2001) For the Recombinant Human Activated Protein C Worldwide Evaluation in Severe Sepsis (PROWESS) Study Group. Efficacy and safety of recombinant human activated protein C for severe sepsis. N Engl J Med 344:699–709
Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64–67
Büller HR, Ten cate JW (1989) Acquired antithrombin III deficinecy: laboratory diagnosis, incidence, clinical implications, and treatment with antithrombin III concentrate. Am J Med 87 (Suppl 3B):44 S–48 S
Conard J, Horellou MH, van Dreden P, Lecompte T, Samama M (1990) Thrombosis and pregnancy in congenital deficiencies in Antithrombin III, protein C or protein S: study of 78 women. Thromb Haemostas 63:319–320
Conard J, Bauer KA, Gruber A, Griffin JH, Schwarz HP, Horellou MH, Samama MM, Rosenberg RD (1993) Normalization of markers of coagulation activation with a purified protein C concentrate in adults with homozygous protein C deficiency. Blood 82:1159–1164
Escuriola-Ettingshausen C, Veldmann A, Beeg T, Schneider W, Jäger G, Kreuz W (1999) Replacement therapy with protein C concentrate in infants and adolescents with meningococcal sepsis and purpura fulminans. Sem Thromb Hemost 25:537–541
Finazzi G, Caccia R, Barbui T (1987) Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: review of 404 cases. Thromb Haemostas 58:1094
Fourrier F, Chopin C, Huart JJ, Runge I, Caron C, Goudemand J (1993) Double-blind, placebo-controlled trial of antithrombin III concentrates in septic shock with disseminated intravascular coagulation. Chest 104:882–888
Hazelzet JA, de Kleijn ED, de Groot R (2001) Endothelial protein C activation in meningococcal sepsis. N Engl J Med 345:1777
Kuhle S, Lane DA, Jochmanns K, Male C, Quehenberger P, Lechner K, Pabinger I (2001) Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism. Thromb Haemost 86:1007–1011
Langley PG, Hughes RD, Forbes A, Keays R, Williams R (1993) Controlled trial of antithrombin III supplementation in fulminant hepatic failure. J Hepatol 17:326–331
Lechner K, Kyrle PA (1995) Antithrombin III concentrates – are they clinically useful? Thromb Haemost 73:340–348
Leclerc F, Hazelzet J, Jude B, Hofhuis W, Hue V, Martinot A, Van der Voort E (1992) Protein C and S deficiency in severe infectious purpura of children: a collaborative study of 40 cases. Intens Care Med 18:202– 205
Levi M, Toh CH, Thachil J, Watson HG (2009) Guidelines for the diagnosis and management of disseminated intravascular coagulation. British Committee for Standards in Haematology. Br J Haematol 145:24–33
Melissari E, Kakkar VV (1989) Congenital severe protein C deficiency in adults. Br J Haematol 72:222–228
Menache D, O’Malley JP, Schorr JB, Wagner B, Williams C, and the Cooperative Study Group (1990) Evaluation of the safety, recovery, half-life, and clinical efficacy of antithrombin III (human) in patients with hereditary antithrombin III deficiency. Blood 75:33–39
Pabinger I, Brücker S, Kyrle PA, Schneider B, Korninger C, Niessner H, Lechner K (1992) Hereditary deficiency of antithrombin III, protein C and protein S: prevalence in patients with a history of venous thrombosis and criteria for a rational patient screening. Blood Coagul Fibrinol 3:547–553
Pabinger I, Kyrle PA, Heistinger M, Eichinger S, Wittmann E, Lechner K (1994) The risk of thromboembolism in asymptomatic patients with protein C- and protein S deficiency: A prospective cohort study. Thromb Haemostas 71:441–445
Pernod G, Biron-Andreani C, Morange PE, Boehlen F, Constans J, Couturaud F, Drouet L, Jude B, Lecompte T, Le Gal G, Trillot N, Wahl D (2009) French group on haemostasis and thrombosis; French Society of vascular medicine, Recommendations on testing for thrombophilia in venous thromboembolic disease: a French consensus guideline. J Mal Vasc 34:156–203
Poort SR, Rosendaal FR, Reitsma PH, Bertina RM (1996) A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 88:3698–3703
Rintala E, Kauppila M, Seppala OP, Voipio-Pulkki LM, Pettila V, Rasi V, Kotilainen P (2000) Protein C substitution in sepsis-associated purpura fulminans. Crit Care Med 28:2373–2378
Sanz-Rodriguez C, Gil-Fernandez JJ, Zapater P, Pinilla I, Granados E, de Gomez G, Soria V, Cano J, Sala N, Fernandez-Ranada JM, Gomez-Gomez N (1999) Long-term management of homozygous protein C deficiency: replacement therapy with subcutaneous purified protein C concentrate. Thromb Haemost 81:887–890
Schellongowski P, Bauer E, Holzinger U, Staudinger T, Frass M, Laczika K, Locker GJ, Quehenberger P, Rabitsch W, Schenk P, Knöbl P (2006) Treatment of adult patients with sepsis-induced coagulopathy and purpura fulminans using a plasma-derived protein C concentrate (Ceprotin). Vox Sang 90:294–301
Schramm W, Spannagl M, Bauer KA, Rosenberg RD, Birkner B, Linnau Y, Schwarz HP (1993) Treatment of coumarin-induced skin necrosis with a monoclonal antibody purified protein C concentrate. Arch Dermatol 129:753–756
Trobisch H, Wüst T (2001) Antithrombin. In: Vorstand und Wissenschaftlichen Beirat der Bundesärztekammer (Hrsg) Leitlinien zur Therapie mit Blutkomponenten und Plasmaderivaten, 2. Aufl. Deutscher Ärzte-Verlag, Köln, S 151–164
Warren BL, Eid A, Singer P, Pillay SS, Carl P, Novak I, Chalupa P, Atherstone A, Penzes I, Kubler A, Knaub S, Keinecke HO, Heinrichs H, Schindel F, Juers M, Bone RC, Opal SM (2001) Caring for the critically ill patient. High-dose antithrombin III in severe sepsis: a randomized controlled trial. JAMA 286:1869–1878
White B, Livingstone W, Murphy C, Hodgson A, Rafferty M, Smith OP (2000) An open-label study of the role of adjuvant hemostatic support with protein C replacement therapy in purpura fulminans-associated meningococcemia. Blood 96:3719–3724
Willeke A, Gerdsen F, Bauersachs RM, Lindhoff-Last E (2002) Rationelle Thrombophiliediagnostik. Dtsch Ärztebl 99:C 1685–1690
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Pabinger, I. (2010). Thrombophile Gerinnungsstörungen. In: Kiefel, V., Mueller-Eckhardt, C. (eds) Transfusionsmedizin und Immunhämatologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-12765-6_27
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