遗传性抗凝血酶缺乏症一例并文献复习_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

冯银合 ^1,3 , 谢玲俐 ² , 杜娆 ¹ ,  毛辉 ¹

1. ;
2. ;
3. ;

Corresponding author：

Keywords：

遗传性抗凝血酶缺乏症; 临床特征; 诊断; 治疗; 达比加群酯

DOI：

10.7507/1671-6205.202203060

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

目的加强临床医生对遗传性抗凝血酶缺乏症的认识，促进该病的早期诊断，改善患者预后。方法总结了1例罕见的遗传性抗凝血酶缺乏症患者的临床特点及诊治经过，并以 “遗传性抗凝血酶缺乏症”“临床特征”“达比加群酯”为关键词检索万方中文数据库，以“Hereditary antithrombin deficiency”“clinical characteristics ”“dabigatran etexilate ”为关键词检索PubMed数据库予以文献复习。结果该患者青年时期即发现非寻常部位血栓（颅内静脉窦），本次就诊期间发现多部位血栓形成，低分子肝素抗凝效果不佳，多次查抗凝血酶Ⅲ明显低于正常，进一步行基因全外显子组测序提示存在遗传性抗凝血酶Ⅲ缺乏症相关的SERPINC1基因致病变异，明确诊断为遗传性抗凝血酶缺乏症后予以达比加群酯抗凝治疗好转，随访至今未再复发。检索相关文献发现，遗传性抗凝血酶缺乏症临床相对罕见，该病具有不同的临床和基因分型，诊断的建立需依据相应的流程，其治疗及预后尚缺乏统一的认识。结论遗传性抗凝血酶缺乏症系静脉系统血栓的罕见病因，对于年轻血栓形成患者、复发性血栓或有家族聚集倾向的血栓患者，需警惕此病的可能；通过对该病的早期诊断、早期合理使用抗凝药物有助于改善预后。

Citation： 冯银合, 谢玲俐, 杜娆, 毛辉. 遗传性抗凝血酶缺乏症一例并文献复习. Chinese Journal of Respiratory and Critical Care Medicine, 2023, 22(10): 736-740. doi: 10.7507/1671-6205.202203060 Copy

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, Ordoñez 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, Ordoñez 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

遗传性抗凝血酶缺乏症一例并文献复习

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content