Research progress of coagulation factor Ⅴ and its association with hemorrhage and thrombosis

doi:10.3969/j.issn.1673-8640.2022.04.019

Abstract

Abstract:

Coagulation factor（F） Ⅴ is an essential factor to participate in the initial phase of coagulation,which plays a role in the production of thrombin. It is recently suggested that FⅤ also harbors anticoagulant properties. Different mutations in the FⅤ gene（F5） cause bleeding or thrombosis. F5 dysfunction mutations often lead to bleeding. For example,patients with hereditary coagulation factor Ⅴ deficiency（FⅤD） often show different degrees of bleeding. However,F5 gain-of-function mutations are prone to thrombosis. FⅤ_Leiden mutation is the most common genetic risk factor for venous thrombosis in Caucasians. This review mainly focuses on the research progress of the association of FⅤ with hemorrhage and thrombosis.

Key words: Coagulation factor Ⅴ, F5 mutation, Coagulation factor Ⅴ deficiency, Phenotype, Genotype

CLC Number:

R446.1

LI Keke, XIAO Yang. Research progress of coagulation factor Ⅴ and its association with hemorrhage and thrombosis[J]. Laboratory Medicine, 2022, 37(4): 396-399.

References 46

[1]	PARABOSCHI E M, MENEGATTI M, PEYVANDI F, et al. Understanding the impact of aberrant splicing in coagulation factor V deficiency[J]. Int J Mol Sci, 2019, 20(4):910. DOI URL
[2]	SRIDHARAN M, COON L M, CHEN D, et al. Factor V deficiency with a thrombotic clinical phenotype[J]. Semin Thromb Hemost, 2019, 45(1):108-112. DOI URL
[3]	PARABOSCHI E M, MENEGATTI M, RIMOLDI V, et al. Profiling the mutational landscape of coagulation factor V deficiency[J]. Haematologica, 2020, 105(4):e180-e185. DOI URL
[4]	丁红香, 苏看看, 胡立群, 等. 一个遗传性FⅤ缺陷症家系的表型与基因变异分析[J]. 中华医学遗传学杂志, 2019, 36(11):1100-1103.
[5]	BOUCHARD B A, ABDALLA S, TRACY P B. The factor V light chain mediates the binding and endocytosis of plasma-derived factor V by megakaryocytes[J]. J Thromb Haemost, 2013, 11(12):2181-2183. DOI URL
[6]	DAHLBÄCK B. Novel insights into the regulation of coagulation by factor V isoforms,tissue factor pathway inhibitorα,and protein S[J]. J Thromb Haemost, 2017, 15(7):1241-1250. DOI URL
[7]	KALAFATIS M, BECK D O, MANN K G. Structural requirements for expression of factor Va activity[J]. J Biol Chem, 2003, 278(35):33550-33561. DOI URL
[8]	CAMIRE R M. A new look at blood coagulation factor V[J]. Curr Opin Hematol, 2011, 18(5):338-342. DOI URL
[9]	DAHLBÄCK B. Pro- and anticoagulant properties of factor V in pathogenesis of thrombosis and bleeding disorders[J]. Int J Lab Hematol, 2016, 38(Suppl 1):4-11. DOI URL
[10]	TABIBIAN S, SHIRAVAND Y, SHAMS M, et al. A comprehensive overview of coagulation factor V and congenital factor V deficiency[J]. Semin Thromb Hemost, 2019, 45(5):523-543. DOI URL
[11]	MONKOVIĆ D D, TRACY P B. Functional characterization of human platelet-released factor V and its activation by factor Xa and thrombin[J]. J Biol Chem, 1990, 265(28):17132-17140. DOI URL
[12]	GREMMEL T, FRELINGER A L 3rd, MICHELSON A D. Platelet physiology[J]. Semin Thromb Hemost, 2016, 42(3):191-204. DOI URL
[13]	HOSSEINZADEGAN H, TAFTI D K. Modeling thrombus formation and growth[J]. Biotechnol Bioeng, 2017, 114(10):2154-2172. DOI URL
[14]	CAMIRE R M, KALAFATIS M, CUSHMAN M, et al. The mechanism of inactivation of human platelet factor Va from normal and activated protein C-resistant individuals[J]. J Biol Chem, 1995, 270(35):20794-20800. DOI URL
[15]	ARIENS R, BECATTINI C, BENDER M, et al. Illustrated state-of-the-art capsules of the ISTH 2020 congress[J]. Res Pract Thromb Haemost, 2020, 4(5):680-713. DOI URL
[16]	CASTOLDI E, ROSING J. APC resistance:biological basis and acquired influences[J]. J Thromb Haemost, 2010, 8(3):445-453. DOI URL
[17]	DUGA S, ASSELTA R, TENCHINI M L. Coagulation factor V[J]. Int J Biochem Cell Biol, 2004, 36(8):1393-1399. DOI URL
[18]	SANTAMARIA S, REGLIŃSKA-MATVEYEV N, GIERULA M, et al. Factor V has an anticoagulant cofactor activity that targets the early phase of coagulation[J]. J Biol Chem, 2017, 292(22):9335-9344. DOI URL
[19]	OWREN P A. New factors concerned in the coagulation of blood[J]. Bulletin Schweiz Akad Med Wiss, 1947, 3(23):163-177.
[20]	PARK Y H, LIM J H, YI H G, et al. Factor V deficiency in Korean patients:clinical and laboratory features,treatment,and outcome[J]. J Korean Med Sci, 2016, 31(2):208-213. DOI URL
[21]	PARK C H, PARK M S, LEE K O, et al. Congenital factor V deficiency from compound heterozygous mutations with a novel variant c.2426del(p.Pro809Hisfs*2) in the F5 gene:a case report[J]. Medicine(Baltimore), 2020, 99(5):e18947.
[22]	ASSELTA R, TENCHINI M L, DUGA S. Inherited defects of coagulation factor V:the hemorrhagic side[J]. J Thromb Haemost, 2006, 4(1):26-34.
[23]	MONTEFUSCO M C, DUGA S, ASSELTA R, et al. A novel two base pair deletion in the factor V gene associated with severe factor V deficiency[J]. Br J haematol, 2000, 111(4):1240-1246.
[24]	BORHANY M, RANC A, FRETIGNY M, et al. Molecular analysis of eight severe FV-deficient patients in Pakistan:a large series of homozygous for frameshift mutations[J]. Haemophilia, 2019, 25(4):e278-e281.
[25]	CASTOLDI E, DUCKERS C, RADU C, et al. Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma[J]. J Thromb Haemost, 2011, 9(5):959-968. DOI URL
[26]	NUZZO F, BESHLAWI I, WALI Y, et al. High incidence of intracranial bleeding in factor V-deficient patients with homozygous F5 splicing mutations[J]. Br J Haematol, 2017, 179(1):163-166. DOI URL
[27]	傅卫军, 侯健, 王东星, 等. 凝血因子Ⅴ基因的一种新突变的发现与确证[J]. 中华医学杂志, 2003, 83(1):24-26.
[28]	LAK M, SHARIFIAN R, PEYVANDI F, et al. Symptoms of inherited factor V deficiency in 35 Iranian patients[J]. Br J Haematol, 1998, 103(4):1067-1069. DOI URL
[29]	DUCKERS C, SIMIONI P, SPIEZIA L, et al. Low plasma levels of tissue factor pathway inhibitor in patients with congenital factor V deficiency[J]. Blood, 2008, 112(9):3615-3623.
[30]	PARUNOV L A, SUROV S S, CHATTOPADHYAY M, et al. Thrombin generation assay modifications needed for its application to monitoring of replacement therapy for haemophilia[J]. Haemophilia, 2021, 27(1):e129-e132.
[31]	BILLOIR P, FEUGRAY G, CHRÉTIEN M H, et al. Thrombin generation assay is a useful pre-operative tool to predict non-bleeding risk in a patient with mild factor V deficiency[J]. Transfus Med, 2020, 30(5):408-409. DOI URL
[32]	DUCKERS C, SIMIONI P, SPIEZIA L, et al. Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms[J]. Blood, 2010, 115(4):879-886. DOI URL
[33]	VAN DOORN P, ROSING J, DUCKERS C, et al. Factor V has anticoagulant activity in plasma in the presence of TFPIα:difference between FV1 and FV2[J]. Thromb Haemost, 2018, 118(7):1194-1202. DOI URL
[34]	CHOWDARY P. Anti-tissue factor pathway inhibitor(TFPI) therapy:a novel approach to the treatment of haemophilia[J]. Int J Hematol, 2020, 111(1):42-50. DOI URL
[35]	GUPTA G K, HENDRICKSON J E, BAHEL P, et al. Factor V activity in apheresis platelets:implications for management of FV deficiency[J]. Transfusion, 2021, 61(2):405-409. DOI URL
[36]	DRZYMALSKI D M, ELSAYES A H, WARD K R, et al. Platelet transfusion as treatment for factor V deficiency in the parturient:a case report[J]. Transfusion, 2019, 59(7):2234-2237. DOI URL
[37]	THALJI N, CAMIRE R M. Parahemophilia:new insights into factor V deficiency[J]. Semin Thromb Hemost, 2013, 39(6):607-612. DOI URL
[38]	BULATO C, NOVEMBRINO C, ANZOLETTI M B, et al. "In vitro" correction of the severe factor V deficiency-related coagulopathy by a novel plasma-derived factor V concentrate[J]. Haemophilia, 2018, 24(4):648-656. DOI URL
[39]	NAIR P M, RENDO M J, REDDOCH-CARDENAS K M, et al. Recent advances in use of fresh frozen plasma,cryoprecipitate,immunoglobulins,and clotting factors for transfusion support in patients with hematologic disease[J]. Semin Hematol, 2020, 57(2):73-82. DOI URL
[40]	NAKAMURA T, MORISHIGE S, OZAWA H, et al. Successful correction of factor V deficiency of patient-derived iPSCs by CRISPR/Cas9-mediated gene editing[J]. Haemophilia, 2020, 26(5):826-833. DOI URL
[41]	VOS H L. Inherited defects of coagulation factor V:the thrombotic side[J]. J Thromb Haemost, 2006, 4(1):35-40.
[42]	APPLEGATE J S, GRONEFELD D. Factor V leiden[J]. Radiol Technol, 2019, 90(3):259-273.
[43]	WILLIAMSON D, BROWN K, LUDDINGTON R, et al. Factor V Cambridge:a new mutation(Arg306→Thr) associated with resistance to activated protein C[J]. Blood, 1998, 91(4):1140-1144. DOI URL
[44]	PEZESHKPOOR B, CASTOLDI E, MAHLER A, et al. Identification and functional characterization of a novel F5 mutation(Ala512Val,FVBonn ) associated with activated protein C resistance[J]. J Thromb Haemost, 2016, 14(7):1353-1363. DOI URL
[45]	NOGAMI K, SHINOZAWA K, OGIWARA K, et al. Novel FV mutation(W1920R,FVNara) associated with serious deep vein thrombosis and more potent APC resistance relative to FVLeiden[J]. Blood, 2014, 123(15):2420-2428. DOI URL
[46]	DORGALALEH A, DABBAGH A, TABIBIAN S, et al. Persistent hiccups in a patient with mild congenital factor V deficiency and COVID-19;clinical and laboratory finding of a rare bleeding disorder[J]. Int J Lab Hematol, 2021, 43(2):e87-e88.