妊娠合并重度凝血因子Ⅺ缺乏症二例

doi:10.12280/gjfckx.20240867

摘要/Abstract

摘要：

凝血因子Ⅺ缺乏症是一种罕见的常染色体遗传性出血性疾病，患病率约为百万分之一。杂合子携带者常无明显出血倾向，纯合子或复合杂合子携带者常伴有严重凝血因子Ⅺ缺乏。妊娠合并凝血因子Ⅺ缺乏症尤其少见，国内鲜有报道。报告2例妊娠合并重度凝血因子Ⅺ缺乏症病例，其中1例为凝血因子Ⅺ复合杂合突变型。2例患者产检时均诊断为重度凝血因子Ⅺ缺乏症，入院后经多学科会诊，评估2例患者无阴道分娩禁忌证，建议经阴道顺产，在临产后使用抗纤溶药物，在严密监护下经阴道分娩健康活婴，分娩后予氨甲环酸抗纤溶及强效宫缩剂加强子宫收缩治疗。产后予双下肢气压治疗预防血栓形成，住院观察4 d，母儿无并发症后出院。通过回顾病例的病史资料及临床诊疗过程并复习相关文献，旨在增加对本病的认识，积累更多的临床诊疗经验。

关键词: 凝固蛋白紊乱, 因子Ⅺ, 血液凝集障碍，遗传性, 围产期管理, 病例报告

Abstract:

Factor Ⅺ deficiency is a rare autosomal inherited hemorrhagic disease with a prevalence of about one in a million. Heterozygous carriers often have no obvious bleeding tendency, and homozygous or compound heterozygous carriers often have severe factor Ⅺ deficiency. Factor Ⅺ deficiency in pregnancy is particularly rare and it has rarely been reported in China. Two cases of severe factor Ⅺ deficiency in pregnancy were reported, including one case of factor Ⅺ compound heterozygous mutation. Two patients were diagnosed with severe coagulation factor Ⅺ deficiency at the time of prenatal examination. After admission, a multidisciplinary consultation was conducted, evaluate 2 cases of patients without vaginal delivery contraindications, suggest by vaginal birth and anti-fibrinolytic drugs were used after labor. Healthy live infants were delivered vaginally under close monitoring. After delivery, tranexamic acid antifibrinolytic and strong uterine contraction agents were used to strengthen uterine contraction treatment. After delivery, both lower limbs were treated with air pressure to prevent thrombosis. After 4 days of hospitalization, the mother and child were discharged without complications. By reviewing the medical history clinical diagnosis and treatment process of the case and reviewing the relevant literature, the aim is to increase the clinicians understanding of the disease and accumulate more clinical diagnosis and treatment experience.

Key words: Coagulation protein disorders, Factor Ⅺ, Blood coagulation disorders, inherited, Perinatal management, Case reports

赵鑫, 陈秀雯, 王雅楠, 王长智, 张夏兰. 妊娠合并重度凝血因子Ⅺ缺乏症二例[J]. 国际妇产科学杂志, 2025, 52(2): 161-164.

ZHAO Xin, CHEN Xiu-wen, WANG Ya-nan, WANG Chang-zhi, ZHANG Xia-lan. Two Cases of Severe Factor Ⅺ Deficiency in Pregnancy[J]. Journal of International Obstetrics and Gynecology, 2025, 52(2): 161-164.

参考文献 18

[1]	Lewandowska MD, Connors JM. Factor Ⅺ Deficiency[J]. Hematol Oncol Clin North Am, 2021, 35(6):1157-1169. doi: 10.1016/j.hoc.2021.07.012.
[2]	Hayakawa Y, Tamura S, Suzuki N, et al. Essential role of a carboxyl-terminal α-helix motif in the secretion of coagulation factor Ⅺ[J]. J Thromb Haemost, 2021, 19(4):920-930. doi: 10.1111/jth.15242. pmid: 33421272
[3]	Mohammed BM, Matafonov A, Ivanov I, et al. An update on factor Ⅺ structure and function[J]. Thromb Res, 2018, 161:94-105. doi: 10.1016/j.thromres.2017.10.008. pmid: 29223926
[4]	Zhang K, Qin L, Xu F, et al. The spectrum of factor Ⅺ deficiency in Southeast China: four recurrent variants can explain most of the deficiencies[J]. Orphanet J Rare Dis, 2024, 19(1):224. doi: 10.1186/s13023-024-03235-5. pmid: 38835089
[5]	Rosenthal RL, Dreskin OH, Rosenthal N. New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor[J]. Proc Soc Exp Biol Med, 1953, 82(1):171-174. doi: 10.3181/00379727-82-20057. pmid: 13037836
[6]	Dhaha Y, El Borgi W, Elmahmoudi H, et al. Factor Ⅺ deficiency: About 20 cases and literature review[J]. Tunis Med, 2022, 100(1):60-65.
[7]	Asselta R, Paraboschi EM, Rimoldi V, et al. Exploring the global landscape of genetic variation in coagulation factor Ⅺ deficiency[J]. Blood, 2017, 130(4):e1-e6. doi: 10.1182/blood-2017-04-780148.
[8]	Davies J, Kadir R. The Management of Factor Ⅺ Deficiency in Pregnancy[J]. Semin Thromb Hemost, 2016, 42(7):732-740. doi: 10.1055/s-0036-1587685.
[9]	Wheeler AP, Hemingway C, Gailani D. The clinical management of factor Ⅺ deficiency in pregnant women[J]. Expert Rev Hematol, 2020, 13(7):719-729. doi: 10.1080/17474086.2020.1772745.
[10]	Gerber GF, Klute KA, Chapin J, et al. Peri- and Postpartum Management of Patients With Factor Ⅺ Deficiency[J]. Clin Appl Thromb Hemost, 2019, 25:1076029619880262. doi: 10.1177/1076029619880262.
[11]	Whitton TP, Healy WJ. Review of Thromboelastography (TEG): Medical and Surgical Applications[J]. Ther Adv Pulm Crit Care Med, 2023, 18:29768675231208426. doi: 10.1177/29768675231208426.
[12]	Katz D, Beilin Y. Disorders of coagulation in pregnancy[J]. Br J Anaesth, 2015, 115(Suppl 2):ii75-88. doi: 10.1093/bja/aev374.
[13]	Wiewel-Verschueren S, Arendz IJ, M Knol H, et al. Gynaecological and obstetrical bleeding in women with factor Ⅺ deficiency - a systematic review[J]. Haemophilia, 2016, 22(2):188-195. doi: 10.1111/hae.12856. pmid: 26634881
[14]	Mumford AD, Ackroyd S, Alikhan R, et al. Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors′ Organization guideline on behalf of the British Committee for Standards in Haematology[J]. Br J Haematol, 2014, 167(3):304-326. doi: 10.1111/bjh.13058.
[15]	Bolton-Maggs P, Goudemand J, Hermans C, et al. FⅪ concentrate use and risk of thrombosis[J]. Haemophilia, 2014, 20(4):e349-e351. doi: 10.1111/hae.12457.
[16]	Stoeckle JH, Bogue T, Zwicker JI. Postpartum haemorrhage in women with mild factor Ⅺ deficiency[J]. Haemophilia, 2020, 26(4):663-666. doi: 10.1111/hae.14081. pmid: 32558038
[17]	Flaujac C, Faille D, Lavenu-Bombled C, et al. Perioperative management and neuraxial analgesia in women with factor Ⅺ deficiency (<60 IU/dL): a French multicenter observational study of 314 pregnancies[J]. Res Pract Thromb Haemost, 2024, 8(4):102462. doi: 10.1016/j.rpth.2024.102462.
[18]	Trossaert M, Chamouard V, Biron-Andreani C, et al. Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders[J]. Eur J Haematol, 2023, 110(6):584-601. doi: 10.1111/ejh.13941.