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Abstract
RÉSUMÉ
L’antithrombine, cofacteur de l’héparine appartenant à la famille des sérines protéases, est un important inhibiteur de la coagulation actif sur de nombreuses sérines protéases. Son déficit est une anomalie héréditaire de transmission autosomique dominante avec une pénétrance variable. La découverte d’un déficit en antithrombine dans un contexte de thrombose récidivante indique la recherche du déficit des autres facteurs de thrombophilie (protéine Set C, mutation du facteur II et V) et l’extension de cette recherche aux autres membres de la famille qui aurait déjà présenté un accident thrombotique comme le cas de famille dont nous présentons l’observation dans le but de montrer l’importance de cette étape dans l’évaluation diagnostique des thromboses récidivantes.
ABSTRACT
Antithrombin, a heparin cofactor belonging to the serine protease family, is an important coagulation inhibitor active on many serine proteases. Its deficiency is an inherited abnormality of autosomal dominant inheritance with variable penetrance. The discovery of an antithrombin deficiency in a context of recurrent thrombosis indicates the search for the deficiency of other thrombophilia factors (Set C protein, mutation of factor II and V) and the extension of this research to other members of the family who would have already presented a thrombotic accident as the family case whose observation we present in order to show the importance of this step in the diagnostic evaluation of recurrent thrombosis.
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References
- - Kottke-Marchant Kandice, Duncan Alexander. Antithrombin Deficiency. Arch Pathol Lab Med. 2002 ; 126: 1326-36
- - Al Hadidi Samer, Wu Kristi, Aburahma Ahmed, Alamarat Zain. Family with clots: antithrombin deficiency. BMJ Case Rep 2017. doi:10.1136/bcr-2017-221556
- - Stevens Scott M, Woller Scott C, Bauer Kenneth A, Kasthuri Raj, Cushman Mary, Streiff Michael, Lim Wendy, Douketis James D. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. J Thromb Thrombolysis. 2016 ; 41:154–164
- - Middeldorp Saskia. Inherited thrombophilia: a double-edged sword. Hematology 2016
- - Bourti Yasmine. Evaluation d’un variant d’antithrombine dans différentes indications thérapeutiques. Pharmacologie. Université Paris-Saclay, 2016. Français. ffNNT : 2016SACLS404ff.
- - Tomohiko Hara, Katsusuke Naito. Inherited antithrombin deficiency and end stage renal disease. Med Sci Monit. 2005; 11(11): 346-354.
- - Khan Salwa, Dickerman Joseph D. Hereditary thrombophilia. Thrombosis Journal. 2006 ; 4:15 doi:10.1186/1477-9560-4-15
- - Sacks S H, Old J M, Reeders S T, Weatherall D J, Douglas A S, Winter J H, Rizza C R. Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds. Journal of Medical Genetics. 1988 ; 25 : 20-24
- - Wan AB Rahman Wan Suriana, Abdullah Wan Zaidah, Hassan Mohd Nazri, Hussin Azlan, Zulkafli Zefarina, Haron Juhara. Familial antithrombin III deficiency in a Malay patient with massive thrombosis. Malaysian J Pathol 2017; 39(2) : 197 – 200
- - Di Minno Matteo Nicola Dario, Dentali Francesco, Lupoli Roberta, Ageno Walter. Mild antithrombin deficiency and risk of recurrent venous thromboembolism A prospective cohort study. Circulation. 2014;129:497-503.
- - Mazzolai1 L, Duchosal M.A. Hereditary Thrombophilia and venous thromboembolism: critical evaluation of the clinical implications of Screening. Eur J Vasc Endovasc Surg. 2007 ; 34 : 483-8
- - Giofrè Maria Concetta, Napoli Francesca, La Rosa Daniela, Caruso Alessia, Laganà Natascia, Orlando Settembrini Lucia, Saitta Antonino, Versace Antonio Giovanni. Recurrent Thrombosis: a case of hereditary thromboembolism. Am J Case Rep, 2017; 18: 1157-9
References
- Kottke-Marchant Kandice, Duncan Alexander. Antithrombin Deficiency. Arch Pathol Lab Med. 2002 ; 126: 1326-36
- Al Hadidi Samer, Wu Kristi, Aburahma Ahmed, Alamarat Zain. Family with clots: antithrombin deficiency. BMJ Case Rep 2017. doi:10.1136/bcr-2017-221556
- Stevens Scott M, Woller Scott C, Bauer Kenneth A, Kasthuri Raj, Cushman Mary, Streiff Michael, Lim Wendy, Douketis James D. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. J Thromb Thrombolysis. 2016 ; 41:154–164
- Middeldorp Saskia. Inherited thrombophilia: a double-edged sword. Hematology 2016
- Bourti Yasmine. Evaluation d’un variant d’antithrombine dans différentes indications thérapeutiques. Pharmacologie. Université Paris-Saclay, 2016. Français. ffNNT : 2016SACLS404ff.
- Tomohiko Hara, Katsusuke Naito. Inherited antithrombin deficiency and end stage renal disease. Med Sci Monit. 2005; 11(11): 346-354.
- Khan Salwa, Dickerman Joseph D. Hereditary thrombophilia. Thrombosis Journal. 2006 ; 4:15 doi:10.1186/1477-9560-4-15
- Sacks S H, Old J M, Reeders S T, Weatherall D J, Douglas A S, Winter J H, Rizza C R. Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds. Journal of Medical Genetics. 1988 ; 25 : 20-24
- Wan AB Rahman Wan Suriana, Abdullah Wan Zaidah, Hassan Mohd Nazri, Hussin Azlan, Zulkafli Zefarina, Haron Juhara. Familial antithrombin III deficiency in a Malay patient with massive thrombosis. Malaysian J Pathol 2017; 39(2) : 197 – 200
- Di Minno Matteo Nicola Dario, Dentali Francesco, Lupoli Roberta, Ageno Walter. Mild antithrombin deficiency and risk of recurrent venous thromboembolism A prospective cohort study. Circulation. 2014;129:497-503.
- Mazzolai1 L, Duchosal M.A. Hereditary Thrombophilia and venous thromboembolism: critical evaluation of the clinical implications of Screening. Eur J Vasc Endovasc Surg. 2007 ; 34 : 483-8
- Giofrè Maria Concetta, Napoli Francesca, La Rosa Daniela, Caruso Alessia, Laganà Natascia, Orlando Settembrini Lucia, Saitta Antonino, Versace Antonio Giovanni. Recurrent Thrombosis: a case of hereditary thromboembolism. Am J Case Rep, 2017; 18: 1157-9