Antithrombin III Deficiency: A Case Report and Review of Literature
Keywords:
Hereditary, Thrombophilia, Antithrombin III deficiencyAbstract
Abstract: Hereditary thrombophilia is a genetic tendency to venous thromboembolism. Clinical features suggesting this condition include thrombosis occuring at voung age, a positive family history of thrombosis, thrombosis at unusual sites, or recurrent thrombosis. We rebort a 26-year-old female with 17 weeks of pregnancy presented with severe headache for two days, then developed alteration of consciousness and global aphasia. Brain CT scan revealed hemorthagic infarction at temporoparietal region with brain edema. Surgery was performed to remove blood clot andthrombosis of vein of Labbe's was detected with good recovery. Three days after operation, shedeveloped deep vein thrombosis of right leg and was treated with low molecular weight heparin. Hereditary thromboolia was suspected and so blood samples were obtained from her and her family for evaluation. The
diagnosis was antithrombin II deficiency due to her low plasma antithrombin II level. Her mother, sister and brother also carry this abnormal gene but her father does not. Her mother and sister are asymptomatic but her brother developed deep vein thrombosis and pulmonary embolism 1 month after this event. The thrombosis in this case may be precipitated by pregnancy and surgery.
Downloads
References
Mateo J, Oliver A, Borrell M, Sala N, Fontcuberta J. Laboratory evaluation and clinical characteristics of 2,132 consecutive unselected patients with venous thromboembolism - results of the Spanish Multicentric Study on Thrombophilia (EMETStudy). Thromb Haemost, 1997.77:444-51.
Chan LC, BC, Lam CK, Liu HW, Brookes S, Jenkins V, Pasi J. Lack of activated protein C resistance in healty Hongkong Chinese blood donors-correlation with absence of Arg 506-glu mutation of factor V gene. Thromb Haemost 1996;75:522.
Ho C. Prevalence of activated protein C resistance in the Chinese population. Thrombosis research. Thrombosis research 1997;88:409-12.
Rees D, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995;346:1133.
Angchaisuksiri P, Pingsuthiwong S, Aryuchai K, Busabaratana M, Sura T, Atichartakarn V, Sritara P. Prevalence of the G1691A mutation in the factor V gene (factor V leiden) and the G20210A prothrombin gene mutation in the thai population. Am J Hematol 2000;65:119-22.
Prayoonwiwat W, Arnutti P, Hiyoshi M, Nathalang O, Suwanasophon C, Kokaseam R, Krutvecho T, Tatsumi N. Detection of factor V Leiden in Thai patients with venous thrombosis. Asian Pac J Allergy Immunol. 2000;18:105-8.
Lane D, Mannucci PM, Bauer KA, Bertina RM, Bochkov NP, Bouvienkov V, Chandy M, Dahlback B, Ginter EK, Miletich JP, Rosendaal FR, Seilgsohn U. Inherited thrombophilia: Part I. Thromb Haemost, 1996;76:651.
Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965;13516.
Odegard OR AU. Antithrombin III: Critical review of assay methods. Significance of variations in health and disease. Haemostasis 1978;7:127.
Tait R, Walker ID, Perry DJ, Islam SI, Daly ME, McCall F, Conkie JA, Carrell RW. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol 1994;87:106.
Meade T, Dyer S, Howarth DJ, Imeson JD, Stirling Y. Antithrombin III and procoagulant activity: Sex differences and effects of the menopause. Br J Haematol 1990;74:77.
Thaler F, Lechner K. Antithrombin III deficiency and thromboembolism. Clin Haematol 1981;10:369-90.
Demers C, Ginsberg JS, Hirsh J, Handerson P, Blajchman MA. Thrombosis in antithrombin-III-deficient persons. Report of a large kindred and literature review. Ann Intern Med 1992,116754-61.
Cosgriff TM BD, Hershgold EJ, Skohnick MH, Martin BA, Baty BJ, Carlson KS. Familial antithrombin III deficiency: Its natural history, genetics, diagnosis and treatment. Baltimore: Medicine 1983;62:209-20.
Grewal HP, WW Barrie. Congenital antithrombin III deficiency causing mesenteric venous infarction: a lesson to remember-a case history. Angiology 1992;43:618-20.
Gruenberg JC, RC Smallridge, RD Rosenberg. Inherited antithrombin-III deficiency causing mesenteric venous infarction: a new clinical entity. Ann Surg 1975;181:791-4.
Maung R, et al., Mesenteric venous thrombosis due to antithrombin III deficiency. Arch Pathol Lab Med 1988;112:37-9.
Pokorney BH, ME Eyster, GH Jeffries. Antithrombin III deficiency appearing as mesenteric vein thrombosis. Am J Gastroenterol 1981;76:534-7.
Wilson C, Walker ID, Davidson JF, Imrie CW. Mesenteric venous thrombosis and antithrombin III deficiency. J Clin Pathol 1987;40:906-8.
Candrina R, Goppini A, Salvi A, Zuccato F, Giustina G. Arterial thrombosis in antithrombin IlI deficiency. Clin Lab Haematol 1986;8:267-8.
Daif A, Awada A, al-Rajeh S, Abduliabba M, al Tahan, AR, Obeid T, Malibary T. Cerebral venous thrombosis in adults. A study of 40 cases from Saudi Arabia. Stroke 1995;26:1193.
Friederich P, Sanson BJ, Simioni P, Zanardi S, Huisman MV, Kindt I, Prandoni P, et.al. Frequency of Pregnancy-related venous thromboembolism in anti-cuagulant factor-deficient women:implication for prophylaxis. American College of Physician 1996;125:955-60.
Conard J, Horellou MH, Van Dreden P, Lecompte T, Samama M. Thrombosis and pregnancy in congenital deficiencies in AT III, protein Cand protein 5: Study of 78 women. Thromb Haemost 19990;63:319-20.
Bucur S, Levy JH, Despotis GJ, Spiess BD, Hillyer CD, Use of antithrombin III concentrate in congenital and acquired deficiency states. Transfusion 1998;38:481.
Schwartz R, Bauer KA, Rosenberg RD, et al. Clinical experience with antithrombin III concentrate in treatment of congenital and acquired deficiency of antithrombin. The antithrombin III study group Am J Med 1989;87:53s.
Nelson-Piercy C LE, de Swiet M. Low-molecular-weight-heparin for obstetric thromboprophylaxis: Experience of sixty-nine pregnancies in sixty-one women at high risk. Am J Obstet Gynecol 1997,176:1062.
Freedman MD. Clinical therapeutic conference: recurrent venous thrombotic and thromboembolic disease [clinical conference]. Am J Ther 1999551-6.
Martinelli I, Mannucci PM, De Stefano V, Taioli E, Rossi V, Crosti F, Paciaroni K, Leone FG, EM. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: A study of 150 families. Blood 1998;92:2353-8.
van den Belt A, Sanson BJ, Simioni P, Prandoni P, Buller HR, Girolami A, Prins MH. Recurrence of venous thromboembolism in patients with familial thrombophilia. Arch Intern Med 1997;157:2227-32.
Ginsberg J, Hirsh J. Use of antithrombotic agents during pregnancy. Chest 19998;14:524s-530s.
Downloads
Published
Issue
Section
License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.