遺傳性抗凝血酶缺乏癥一例并文獻復習_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

馮銀合 ^1,3 , 謝玲俐 ² , 杜嬈 ¹ ,  毛輝 ¹

1. ;
2. ;
3. ;

Corresponding?author：

Keywords：

遺傳性抗凝血酶缺乏癥; 臨床特征; 診斷; 治療; 達比加群酯

DOI：

10.7507/1671-6205.202203060

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目的加強臨床醫生對遺傳性抗凝血酶缺乏癥的認識，促進該病的早期診斷，改善患者預后。方法總結了1例罕見的遺傳性抗凝血酶缺乏癥患者的臨床特點及診治經過，并以 “遺傳性抗凝血酶缺乏癥”“臨床特征”“達比加群酯”為關鍵詞檢索萬方中文數據庫，以“Hereditary antithrombin deficiency”“clinical characteristics ”“dabigatran etexilate ”為關鍵詞檢索PubMed數據庫予以文獻復習。結果該患者青年時期即發現非尋常部位血栓（顱內靜脈竇），本次就診期間發現多部位血栓形成，低分子肝素抗凝效果不佳，多次查抗凝血酶Ⅲ明顯低于正常，進一步行基因全外顯子組測序提示存在遺傳性抗凝血酶Ⅲ缺乏癥相關的SERPINC1基因致病變異，明確診斷為遺傳性抗凝血酶缺乏癥后予以達比加群酯抗凝治療好轉，隨訪至今未再復發。檢索相關文獻發現，遺傳性抗凝血酶缺乏癥臨床相對罕見，該病具有不同的臨床和基因分型，診斷的建立需依據相應的流程，其治療及預后尚缺乏統一的認識。結論遺傳性抗凝血酶缺乏癥系靜脈系統血栓的罕見病因，對于年輕血栓形成患者、復發性血栓或有家族聚集傾向的血栓患者，需警惕此病的可能；通過對該病的早期診斷、早期合理使用抗凝藥物有助于改善預后。

Citation： 馮銀合, 謝玲俐, 杜嬈, 毛輝. 遺傳性抗凝血酶缺乏癥一例并文獻復習. Chinese Journal of Respiratory and Critical Care Medicine, 2023, 22(10): 736-740. doi: 10.7507/1671-6205.202203060 Copy

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2.	Pabinger I, Thaler J. How I treat patients with hereditary antithrombin deficiency. Blood, 2019, 134(26): 2346-2353.
3.	Bravo-Pérez C, Vicente V, Corral J. Management of antithrombin deficiency: an update for clinicians. Expert Rev Hematol, 2019, 12: 397-405.
4.	de la Morena-Barrio B, Orlando C, de la Morena-Barrio ME, et al. Incidence and features of thrombosis in children with inherited antithrombin deficiency. Haematologica, 2019, 104: 2512-2518.
5.	Croles FN, Borjas-Howard J, Nasserinejad K, et al. Risk of venous thrombosis in antithrombin deficiency: a systematic review and Bayesian meta-analysis. Semin Thromb Hemost, 2018, 44: 315-326.
6.	Corral J, de la Morena-Barrio ME, Vicente V. The genetics of antithrombin. Thromb Res, 2018, 169: 23-29.
7.	Mahmoodi BK, Brouwer JL, Ten Kate MK, et al. A prospective cohort study on the absolute risks of venous thromboembolism and predictive value of screening asymptomatic relatives of patients with hereditary deficiencies of protein S, protein C or antithrombin. J Thromb Haemost, 2010, 8: 1193-1200.
8.	Ahmad A. Genetics of cerebral venous thrombosis. J Pak Med Assoc, 2006, 56(11): 488-490.
9.	Eastwood KA, Vaughan A, McCune KH. Mesenteric vein thrombosis associated with anti-thrombin III deficiency. Ulster Med J, 2009, 78(1): 53-55.
10.	Roldán V, Ordo?ez A, Marín F, et al. Antithrombin Cambridge II (A384S) supports a role for antithrombin deficiency in arterial thrombosis. Thromb Haemost, 2009, 101: 483-486.
11.	Mulder R, Croles FN, Mulder AB, et al. SERPINC1 gene mutations in antithrombin deficiency. Br J Haematol, 2017, 178: 279-285.
12.	de la Morena-Barrio ME, Wypasek E, Owczarek D, et al. MPI-CDG with transient hypoglycosylation and antithrombin deficiency. Haematologica, 2019, 104: e79-e82.
13.	Skelley JW, White CW, Thomason AR. The use of direct oral anticoagulants in inherited thrombophilia. J Thromb Thrombolysis, 2017, 43: 24-30.
14.	Kawano H, Maemura K. Edoxaban was effective for the treatment of deep vein thrombosis and pulmonary thromboembolism in a cancer patient with antithrombin III deficiency. Intern Med, 2016, 55(22): 3285-3289.
15.	Minami K, Kumagai K, Sugai Y, et al. Efficacy of oral factor Xa inhibitor for venous thromboembolism in a patient with antithrombin deficiency. Intern Med, 2018, 57(14): 2025-2028.
16.	Witters P, Cassiman D, Morava E. Nutritional therapies in congenital disorders of glycosylation (CDG). Nutrients, 2017, 9(11): 1222.

1. Patnaik MM, Moll S. Inherited antithrombin deficiency: a review. Haemophilia, 2008, 14: 1229-1239.
2. Pabinger I, Thaler J. How I treat patients with hereditary antithrombin deficiency. Blood, 2019, 134(26): 2346-2353.
3. Bravo-Pérez C, Vicente V, Corral J. Management of antithrombin deficiency: an update for clinicians. Expert Rev Hematol, 2019, 12: 397-405.
4. de la Morena-Barrio B, Orlando C, de la Morena-Barrio ME, et al. Incidence and features of thrombosis in children with inherited antithrombin deficiency. Haematologica, 2019, 104: 2512-2518.
5. Croles FN, Borjas-Howard J, Nasserinejad K, et al. Risk of venous thrombosis in antithrombin deficiency: a systematic review and Bayesian meta-analysis. Semin Thromb Hemost, 2018, 44: 315-326.
6. Corral J, de la Morena-Barrio ME, Vicente V. The genetics of antithrombin. Thromb Res, 2018, 169: 23-29.
7. Mahmoodi BK, Brouwer JL, Ten Kate MK, et al. A prospective cohort study on the absolute risks of venous thromboembolism and predictive value of screening asymptomatic relatives of patients with hereditary deficiencies of protein S, protein C or antithrombin. J Thromb Haemost, 2010, 8: 1193-1200.
8. Ahmad A. Genetics of cerebral venous thrombosis. J Pak Med Assoc, 2006, 56(11): 488-490.
9. Eastwood KA, Vaughan A, McCune KH. Mesenteric vein thrombosis associated with anti-thrombin III deficiency. Ulster Med J, 2009, 78(1): 53-55.
10. Roldán V, Ordo?ez A, Marín F, et al. Antithrombin Cambridge II (A384S) supports a role for antithrombin deficiency in arterial thrombosis. Thromb Haemost, 2009, 101: 483-486.
11. Mulder R, Croles FN, Mulder AB, et al. SERPINC1 gene mutations in antithrombin deficiency. Br J Haematol, 2017, 178: 279-285.
12. de la Morena-Barrio ME, Wypasek E, Owczarek D, et al. MPI-CDG with transient hypoglycosylation and antithrombin deficiency. Haematologica, 2019, 104: e79-e82.
13. Skelley JW, White CW, Thomason AR. The use of direct oral anticoagulants in inherited thrombophilia. J Thromb Thrombolysis, 2017, 43: 24-30.
14. Kawano H, Maemura K. Edoxaban was effective for the treatment of deep vein thrombosis and pulmonary thromboembolism in a cancer patient with antithrombin III deficiency. Intern Med, 2016, 55(22): 3285-3289.
15. Minami K, Kumagai K, Sugai Y, et al. Efficacy of oral factor Xa inhibitor for venous thromboembolism in a patient with antithrombin deficiency. Intern Med, 2018, 57(14): 2025-2028.
16. Witters P, Cassiman D, Morava E. Nutritional therapies in congenital disorders of glycosylation (CDG). Nutrients, 2017, 9(11): 1222.

Chinese Journal of Respiratory and Critical Care Medicine

遺傳性抗凝血酶缺乏癥一例并文獻復習

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