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Factor V Leiden

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382:. Depending on the chosen start the position of the nucleotide variant is either at position 1691 or 1746. It also affects the amino acid position for the variant, which is either 506 or 534. (Together with the general lack of nomenclature standard, this variance means that the SNP can be referred to in several ways, such as G1691A, c.1691G>A, 1691G>A, c.1746G>A, p.Arg534Gln, Arg506Gln, R506Q or rs6025.) Since this amino acid is normally the cleavage site for activated protein C, the mutation prevents efficient inactivation of factor V. When factor V remains active, it facilitates overproduction of thrombin leading to generation of excess fibrin and excess clotting. 153:
PE compared with women who do not take OCP. Women with factor V Leiden who take OCPs have about a 35-fold increased risk of developing a DVT or PE compared with women without factor V Leiden and those who do not take OCPs. Likewise, postmenopausal women taking HRT have a two- to three-fold higher risk of developing a DVT or PE than women who do not take HRT, and women with factor V Leiden who take HRT have a 15-fold higher risk. Women with heterozygous factor V Leiden who are making decisions about OCP or HRT use should take these statistics into consideration when weighing the risks and benefits of treatment.
536:), one from each parent, may have up to 80 times the usual risk of developing this type of blood clot. Considering that the risk of developing an abnormal blood clot averages about 1 in 1,000 per year in the general population, the presence of one copy of the factor V Leiden mutation increases that risk to between 3 in 1,000 to 8 in 1,000. Having two copies of the mutation may raise the risk as high as 80 in 1,000. It is unclear whether these individuals are at increased risk for 321: 579:
due to either clotting in the placenta, umbilical cord, or the fetus (fetal clotting may depend on whether the baby has inherited the gene) or influences the clotting system may have on placental development. Note that many of these women go through one or more pregnancies with no difficulties, while
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based test. In both methods, the time it takes for blood to clot is decreased in the presence of the factor V Leiden mutation. This is done by running two tests simultaneously; one test is run in the presence of activated protein C and the other, in the absence. A ratio is determined based on the two
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The use of hormones, such as oral contraceptive pills (OCPs) and hormone replacement therapy (HRT), including estrogen and estrogen-like drugs taken after menopause, increases the risk of developing DVT and PE. Healthy women taking OCPs have a three- to four-fold increased risk of developing a DVT or
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The symptoms of factor V Leiden vary among individuals. There are some individuals who have the F5 gene and who never develop thrombosis, while others have recurring thrombosis before the age of 30 years. This variability is influenced by the number of F5 gene (chromosome 1) mutations a person has,
79:, an anticoagulant protein that normally inhibits the pro-clotting activity of factor V, is not able to bind normally to factor V, leading to a hypercoagulable state, i.e., an increased tendency for the patient to form abnormal and potentially harmful blood clots. Factor V Leiden is the most common 445:
Suspicion of factor V Leiden being the cause for any thrombotic event should be considered in any Caucasian patient below the age of 45, or in any person with a family history of venous thrombosis. There are a few different methods by which this condition can be diagnosed. Most laboratories screen
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Studies have found that about 5 percent of Caucasians in North America have factor V Leiden. Data have indicated that prevalence of factor V Leiden is greater among Caucasians than minority Americans. One study also suggested "that the factor V‐Leiden mutation segregates in populations with
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tests and the results signify to the laboratory whether activated protein C is working or not. There is also a genetic test that can be done for this disorder. The mutation (a 1691G→A substitution) removes a cleavage site of the
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have this condition. The risk of developing a clot in a blood vessel depends on whether a person inherits one or two copies of the factor V Leiden mutation. Inheriting one copy of the mutation from a parent
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in people with factor V Leiden warrants temporary anticoagulant treatment, but generally not lifelong treatment. In addition, temporary treatment with an anticoagulant such as
338:, i.e. not every person who has the mutation develops the disease. The condition results in a factor V variant that cannot be as easily degraded by activated protein C. The 706:
Ridker PM, Miletich JP, Hennekens CH, Buring JE (1997). "Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening".
91:, where it was first identified in 1994 by Rogier Maria Bertina under the direction of (and in the laboratory of) Pieter Hendrick Reitsma. Despite the increased risk of 1053: 567:-containing birth control pills or hormone replacement) in the form of deep vein thrombosis and pulmonary embolism. They also may have a small increased risk of 1749: 118:
the presence of other gene alterations related to blood clotting, and circumstantial risk factors, such as surgery, use of oral contraceptives and pregnancy.
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Bertina RM, Koeleman BP, Koster T, et al. (May 1994). "Mutation in blood coagulation factor V associated with resistance to activated protein C".
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Andreassi MG, Botto N, Maffei S (2006). "Factor V Leiden, prothrombin G20210A substitution and hormone therapy: indications for molecular screening".
1742: 1336:"Comparison of Russell viper venom-based and activated partial thromboplastin time-based screening assays for resistance to activated protein C" 1873: 1370: 956: 1603: 741:
Gregg JP, Yamane AJ, Grody WW (December 1997). "Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations".
447: 926: 754: 2048: 2031: 1695: 611:"Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease" 519:
significant Caucasian admixture and is rare in genetically distant non‐European groups." Up to 30 percent of patients who present with
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factor V Leiden, unless there are additional risk factors present, but are given when such an event occurs. A single occurrence of
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Rodger MA, Paidas M, McLintock C, et al. (August 2008). "Inherited thrombophilia and pregnancy complications revisited".
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Juul, Klaus; TybjÌrg-Hansen, Anne; Steffensen, Rolf; Kofoed, Steen; Jensen, Gorm; Nordestgaard, Børge Grønne (2002-07-01).
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others may repeatedly have pregnancy complications, and still others may develop clots within weeks of becoming pregnant.
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individuals have a more severe clinical condition. The presence of acquired risk factors for venous thrombosis—including
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factor V Leiden or heterozygous factor V Leiden with additional thrombophilia however should be considered for lifelong
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will give a diagnosis. Other PCR based assays such as iPLEX can also identify zygosity and frequency of the variant.
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venous thrombosis. While only 1 percent of people with factor V Leiden have two copies of the defective gene, these
95:, people with one copy of this gene have not been found to have shorter lives than the general population. It is an 2198: 2043: 1371:"Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders" 2314: 1885: 1866: 776:
De Stefano V, Chiusolo P, Paciaroni K, Leone G (1998). "Epidemiology of factor V Leiden: clinical implications".
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Nicolaes GA, Dahlbäck B (April 2002). "Factor V and thrombotic disease: description of a janus-faced protein".
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may be required during periods of particularly high risk of thrombosis, such as major surgery. People with
2188: 2163: 2121: 549: 402: 92: 1625: 676: 2183: 2173: 1991: 414: 363: 677:"Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia" 239: 409:. It is extremely rare for this disorder to cause the formation of clots in arteries that can lead to 215: 1939: 1834: 1824: 1662: 828: 520: 491: 422: 390: 126: 99: 556:—further increase the chance that an individual with the factor V Leiden mutation will develop DVT. 2178: 2168: 1964: 1844: 1684: 589: 507: 471: 2304: 1986: 1791: 1552: 1511: 1472: 994: 852: 801: 571:, may have a small increased risk of low birth weight babies, may have a small increased risk of 524: 495: 406: 331: 130: 72: 1944: 1918: 1611: 71:(one of several substances that helps blood clot), which causes an increase in blood clotting ( 2193: 1969: 1878: 1717: 1577: 1544: 1503: 1464: 1435: 1390: 1357: 1311: 1205: 1165: 1147: 1106: 1098: 1035: 986: 978: 934: 893: 844: 793: 758: 723: 688: 643: 38: 1014:"LESSON OF THE MONTH – Catastrophic Arterial Thromboembolism Associated with Factor V Leiden" 2019: 1959: 1954: 1814: 1536: 1495: 1456: 1425: 1415: 1382: 1347: 1303: 1197: 1155: 1137: 1088: 1025: 968: 911: 883: 836: 785: 750: 715: 633: 625: 262: 102: 1591: 1243:"Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations". 393:(DVT). If the venous clots break off, these clots can travel through the right side of the 2299: 2133: 609:
Klarin D, Busenkell E, Judy R, Lynch J, Levin M, Haessler J, et al. (November 2019).
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As there is no cure yet, treatment is focused on prevention of thrombotic complications.
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Nichols WL, Heit JA (September 1996). "Activated protein C resistance and thrombosis".
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The excessive clotting that occurs in this disorder is almost always restricted to the
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Having venous thrombosis in unusual sites in the body such as the brain or the liver.
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Having a history of unexplained pregnancy loss in the second or third trimester.
1126:"Assessing the risk of recurrent venous thromboembolism – a practical approach" 973: 303:, which polymerizes to form the dense meshwork that makes up the majority of a 2329: 2294: 2269: 1913: 1895: 925:
Jennifer Bushwitz; Michael A. Pacanowski & Julie A. Johnson (2006-10-11).
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Women with factor V Leiden have a substantially increased risk of clotting in
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that acts to limit the extent of clotting by cleaving and degrading factor V.
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10.1002/(SICI)1096-8628(19971219)73:3<334::AID-AJMG20>3.0.CO;2-J
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are at a heightened risk for the events detailed above versus those who are
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Keo, Hong H; Fahrni, Jennifer; Husmann, Marc; Gretener, Silvia B. (2015).
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Having a DVT or PE and a strong family history of venous thromboembolism.
96: 68: 1142: 2279: 2238: 553: 499: 367: 246: 210: 84: 1645: 957:"Factor V Leiden: The Copenhagen City Heart Study and 2 meta-analyses" 2223: 1672: 1657: 1201: 840: 430: 410: 300: 289: 234: 88: 1268: 1525:"Coagulation factor V and thrombophilia: background and mechanisms" 1420: 1334:
Herskovits AZ, Lemire SJ, Longtine J, Dorfman DM (November 2008).
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What do we know about heredity and factor V Leiden thrombophilia?
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Kujovich J; Pagon, RA; Bird, TC; Dolan, CR; Stephens, K (2010) .
1700: 1226:"Ethnic distribution of factor V Leiden in 4047 men and women". 451: 398: 359: 351: 339: 304: 1738: 87:
amongst ethnic Europeans. It is named after the Dutch city of
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Press RD, Bauer KA, Kujovich JL, Heit JA (November 2002).
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Ng, N; Brown, JRI; Edmondson, RA; Tillyer, Ml (May 2000).
1070: 1068: 1066: 1281:"Factor V Leiden thrombophilia: MedlinePlus Genetics" 1018:
European Journal of Vascular and Endovascular Surgery
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Factor V Leiden Thrombophilia Explained - Genome.gov
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Segers K, Dahlbäck B, Nicolaes GA (September 2007).
2254: 2211: 2132: 2076: 2018: 2011: 2004: 1932: 1894: 1807: 1800: 1639: 1610:. University of Washington, Seattle. Archived from 446:'at risk' patients with either a snake venom (e.g. 421:, is more common. Given that this disease displays 261: 245: 233: 221: 209: 200: 188: 176: 168: 163: 142:
Having a DVT or PE during or right after pregnancy.
37: 32: 1449:Arteriosclerosis, Thrombosis, and Vascular Biology 548:, use of estrogen-containing (combined) forms of 366:of amino acid R to amino acid Q, it changes the 324:Pathophysiology of factor V Leiden gene mutation 1375:Archives of Pathology & Laboratory Medicine 276:In the normal pathway, factor V functions as a 1183: 1181: 1179: 486:are not routinely recommended for people with 1750: 8: 1075:Ornstein, Deborah L.; Cushman, Mary (2003). 334:genetic condition that exhibits incomplete 2015: 2008: 1804: 1757: 1743: 1735: 1636: 1487:Clinical Chemistry and Laboratory Medicine 29: 1594:at the U.S. National Library of Medicine 1429: 1419: 1351: 1159: 1141: 1092: 1029: 972: 887: 637: 342:that codes the protein is referred to as 172:Factor V Leiden, Arg506Gln, R506Q, G1691A 1602:Kujovich JL, Goodnight SH (2007-02-17). 1054:"Factor V Leiden Mutation – Homozygous" 601: 83:hypercoagulability (prone to clotting) 67:) is a variant (mutated form) of human 1340:American Journal of Clinical Pathology 927:"Important Variant Information for F5" 160: 778:Seminars in Thrombosis and Hemostasis 417:, though a "mini-stroke", known as a 121:Symptoms of factor V Leiden include: 7: 743:American Journal of Medical Genetics 1130:Vascular Health and Risk Management 133:(pulmonary embolism) before age 50. 1461:10.1161/01.ATV.0000012665.51263.B7 1094:10.1161/01.CIR.0000068167.08920.F1 25: 1402:Hooper WC, De Staercke C (2002). 1269:http://www.genome.gov/15015167#Q5 448:dilute Russell's viper venom time 389:, where the clotting may cause a 2111:platelet storage pool deficiency 2063:Heparin-induced thrombocytopenia 1604:"Factor V Leiden Thrombophilia" 1570:"Factor V Leiden Thrombophilia" 872:"Factor V Leiden thrombophilia" 1830:Activated protein C resistance 675:De Stefano V, Leone G (1995). 356:single nucleotide polymorphism 1: 33:Factor V Leiden thrombophilia 1924:Trousseau sign of malignancy 1387:10.5858/2002-126-1304-CUOFVL 1308:10.1097/AOG.0b013e31817e8acc 889:10.1097/GIM.0b013e3181faa0f2 870:Kujovich JL (January 2011). 2244:Nonthrombocytopenic purpura 1820:Antithrombin III deficiency 295:. Thrombin in turn cleaves 136:Having recurring DVT or PE. 2398: 2199:Congenital afibrinogenemia 2103:Glanzmann's thrombasthenia 1529:Thrombosis and Haemostasis 974:10.1182/blood-2002-01-0111 129:(deep vein thrombosis) or 2315:Gastrointestinal bleeding 2117:Hermansky–Pudlak syndrome 1886:Antiphospholipid syndrome 1867:Essential thrombocythemia 1777: 1296:Obstetrics and Gynecology 630:10.1038/s41588-019-0519-3 419:transient ischemic attack 257: 205: 75:). Due to this mutation, 2285:Subconjunctival bleeding 2091:Bernard–Soulier syndrome 2054:Upshaw–Schulman syndrome 2028:Thrombocytopenic purpura 1857:Sticky platelet syndrome 1596:Medical Subject Headings 1353:10.1309/AJCP7YBJ6URTVCWP 720:10.1001/jama.277.16.1305 457:restriction endonuclease 18:Factor V Leiden mutation 2275:Intracranial hemorrhage 912:"SNP linked to Gene F5" 93:venous thromboembolisms 2189:Factor XIII deficiency 2169:Hypoprothrombinemia/II 2164:von Willebrand disease 2122:Gray platelet syndrome 1031:10.1053/ejvs.1999.0971 550:hormonal contraception 403:pulmonary blood vessel 330:Factor V Leiden is an 325: 2184:Factor XII deficiency 2174:Factor VII deficiency 1992:Renal vein thrombosis 1500:10.1515/CCLM.2006.103 790:10.1055/s-2007-996025 364:missense substitution 323: 2372:SNPs on chromosome 1 1940:Deep vein thrombosis 1835:Protein S deficiency 1825:Protein C deficiency 1541:10.1160/th07-02-0150 1408:Respiratory Research 876:Genetics in Medicine 521:deep vein thrombosis 492:deep vein thrombosis 423:incomplete dominance 391:deep vein thrombosis 358:(SNP) is located in 2179:Factor X deficiency 2068:May–Hegglin anomaly 1845:Prothrombin G20210A 1143:10.2147/VHRM.S83718 833:1994Natur.369...64B 590:Prothrombin G20210A 472:DNA electrophoresis 450:) based test or an 401:where they block a 288:, resulting in the 2305:Pulmonary hematoma 2212:Signs and symptoms 1987:Pulmonary embolism 1792:Bleeding diathesis 1302:(2 Pt 1): 320–24. 525:pulmonary embolism 496:pulmonary embolism 437:for the mutation. 407:pulmonary embolism 332:autosomal dominant 326: 201:External databases 113:Signs and symptoms 73:hypercoagulability 2359: 2358: 2355: 2354: 2207: 2206: 2194:Dysfibrinogenemia 2078:Platelet function 2000: 1999: 1879:Purpura fulminans 1732: 1731: 1077:"Factor V Leiden" 624:(11): 1574–1579. 510:anticoagulation. 466:, treatment with 273: 272: 49: 48: 27:Medical condition 16:(Redirected from 2389: 2020:Thrombocytopenia 2016: 2009: 1965:Lowenberg's sign 1815:Clotting factors 1805: 1759: 1752: 1745: 1736: 1637: 1622: 1620: 1619: 1585: 1564: 1559:. Archived from 1519: 1480: 1443: 1433: 1423: 1398: 1365: 1355: 1320: 1319: 1291: 1285: 1284: 1277: 1271: 1265: 1259: 1254: 1248: 1237: 1231: 1220: 1214: 1213: 1202:10.4065/71.9.897 1185: 1174: 1173: 1163: 1145: 1121: 1115: 1114: 1096: 1072: 1061: 1060: 1058: 1050: 1044: 1043: 1033: 1009: 1003: 1002: 976: 952: 946: 945: 943: 942: 933:. Archived from 922: 916: 915: 908: 902: 901: 891: 867: 861: 860: 841:10.1038/369064a0 816: 810: 809: 773: 767: 766: 738: 732: 731: 703: 697: 696: 672: 666: 665: 663: 662: 656: 650:. Archived from 641: 615: 606: 429:for the mutated 425:, those who are 161: 105:with incomplete 103:genetic disorder 30: 21: 2397: 2396: 2392: 2391: 2390: 2388: 2387: 2386: 2362: 2361: 2360: 2351: 2300:Hemopericardium 2250: 2203: 2134:Clotting factor 2128: 2072: 1996: 1945:Bancroft's sign 1928: 1919:Virchow's triad 1890: 1840:Factor V Leiden 1796: 1773: 1763: 1733: 1728: 1727: 1648: 1634: 1617: 1615: 1601: 1592:factor+V+Leiden 1588: 1567: 1522: 1483: 1446: 1401: 1381:(11): 1304–18. 1368: 1333: 1329: 1327:Further reading 1324: 1323: 1293: 1292: 1288: 1279: 1278: 1274: 1266: 1262: 1255: 1251: 1238: 1234: 1221: 1217: 1187: 1186: 1177: 1123: 1122: 1118: 1074: 1073: 1064: 1056: 1052: 1051: 1047: 1011: 1010: 1006: 954: 953: 949: 940: 938: 924: 923: 919: 910: 909: 905: 869: 868: 864: 818: 817: 813: 775: 774: 770: 740: 739: 735: 705: 704: 700: 674: 673: 669: 660: 658: 654: 618:Nature Genetics 613: 608: 607: 603: 598: 586: 516: 480: 443: 275: 159: 157:Pathophysiology 125:Having a first 115: 52:Factor V Leiden 28: 23: 22: 15: 12: 11: 5: 2395: 2393: 2385: 2384: 2382:Coagulopathies 2379: 2377:Blood proteins 2374: 2364: 2363: 2357: 2356: 2353: 2352: 2350: 2349: 2348: 2347: 2339: 2338: 2337: 2332: 2327: 2325:Hemoperitoneum 2322: 2317: 2309: 2308: 2307: 2302: 2297: 2289: 2288: 2287: 2282: 2277: 2272: 2267: 2258: 2256: 2252: 2251: 2249: 2248: 2247: 2246: 2236: 2231: 2226: 2221: 2215: 2213: 2209: 2208: 2205: 2204: 2202: 2201: 2196: 2191: 2186: 2181: 2176: 2171: 2166: 2161: 2160: 2159: 2154: 2149: 2138: 2136: 2130: 2129: 2127: 2126: 2125: 2124: 2119: 2107: 2106: 2105: 2095: 2094: 2093: 2082: 2080: 2074: 2073: 2071: 2070: 2065: 2059: 2058: 2057: 2056: 2051: 2041: 2040: 2039: 2037:Evans syndrome 2024: 2022: 2013: 2006: 2002: 2001: 1998: 1997: 1995: 1994: 1989: 1984: 1983: 1982: 1977: 1972: 1970:Peabody's sign 1967: 1962: 1957: 1952: 1947: 1936: 1934: 1930: 1929: 1927: 1926: 1921: 1916: 1911: 1906: 1900: 1898: 1892: 1891: 1889: 1888: 1883: 1882: 1881: 1871: 1870: 1869: 1864: 1862:Thrombocytosis 1859: 1849: 1848: 1847: 1842: 1837: 1832: 1827: 1822: 1811: 1809: 1802: 1798: 1797: 1795: 1794: 1789: 1784: 1778: 1775: 1774: 1764: 1762: 1761: 1754: 1747: 1739: 1730: 1729: 1726: 1725: 1714: 1703: 1692: 1677: 1665: 1649: 1644: 1643: 1641: 1640:Classification 1633: 1632:External links 1630: 1629: 1628: 1623: 1599: 1587: 1586: 1565: 1563:on 2013-02-11. 1520: 1481: 1444: 1399: 1366: 1346:(5): 796–804. 1330: 1328: 1325: 1322: 1321: 1286: 1272: 1260: 1249: 1232: 1215: 1190:Mayo Clin Proc 1175: 1116: 1062: 1045: 1024:(5): 551–553. 1004: 947: 917: 903: 862: 827:(6475): 64–7. 811: 768: 733: 714:(16): 1305–7. 698: 667: 600: 599: 597: 594: 593: 592: 585: 582: 515: 512: 484:Anticoagulants 479: 476: 442: 439: 328: 327: 271: 270: 265: 259: 258: 255: 254: 249: 243: 242: 237: 231: 230: 225: 219: 218: 213: 207: 206: 203: 202: 198: 197: 192: 186: 185: 180: 174: 173: 170: 166: 165: 158: 155: 150: 149: 146: 143: 140: 137: 134: 114: 111: 47: 46: 41: 35: 34: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 2394: 2383: 2380: 2378: 2375: 2373: 2370: 2369: 2367: 2346: 2343: 2342: 2340: 2336: 2335:Hematosalpinx 2333: 2331: 2328: 2326: 2323: 2321: 2318: 2316: 2313: 2312: 2310: 2306: 2303: 2301: 2298: 2296: 2293: 2292: 2290: 2286: 2283: 2281: 2278: 2276: 2273: 2271: 2268: 2266: 2263: 2262: 2260: 2259: 2257: 2253: 2245: 2242: 2241: 2240: 2237: 2235: 2232: 2230: 2227: 2225: 2222: 2220: 2217: 2216: 2214: 2210: 2200: 2197: 2195: 2192: 2190: 2187: 2185: 2182: 2180: 2177: 2175: 2172: 2170: 2167: 2165: 2162: 2158: 2155: 2153: 2150: 2148: 2145: 2144: 2143: 2140: 2139: 2137: 2135: 2131: 2123: 2120: 2118: 2115: 2114: 2113: 2112: 2108: 2104: 2101: 2100: 2099: 2096: 2092: 2089: 2088: 2087: 2084: 2083: 2081: 2079: 2075: 2069: 2066: 2064: 2061: 2060: 2055: 2052: 2050: 2047: 2046: 2045: 2042: 2038: 2035: 2034: 2033: 2029: 2026: 2025: 2023: 2021: 2017: 2014: 2010: 2007: 2003: 1993: 1990: 1988: 1985: 1981: 1978: 1976: 1973: 1971: 1968: 1966: 1963: 1961: 1960:Louvel's sign 1958: 1956: 1955:Lisker's sign 1953: 1951: 1948: 1946: 1943: 1942: 1941: 1938: 1937: 1935: 1931: 1925: 1922: 1920: 1917: 1915: 1912: 1910: 1907: 1905: 1904:Thrombophilia 1902: 1901: 1899: 1897: 1893: 1887: 1884: 1880: 1877: 1876: 1875: 1872: 1868: 1865: 1863: 1860: 1858: 1855: 1854: 1853: 1850: 1846: 1843: 1841: 1838: 1836: 1833: 1831: 1828: 1826: 1823: 1821: 1818: 1817: 1816: 1813: 1812: 1810: 1806: 1803: 1799: 1793: 1790: 1788: 1785: 1783: 1780: 1779: 1776: 1772: 1768: 1765:Disorders of 1760: 1755: 1753: 1748: 1746: 1741: 1740: 1737: 1724: 1720: 1719: 1715: 1713: 1709: 1708: 1704: 1702: 1698: 1697: 1693: 1691: 1687: 1686: 1682: 1678: 1675: 1674: 1670: 1666: 1664: 1660: 1659: 1655: 1651: 1650: 1647: 1642: 1638: 1631: 1627: 1624: 1614:on 2008-06-02 1613: 1609: 1605: 1600: 1597: 1593: 1590: 1589: 1583: 1579: 1575: 1571: 1566: 1562: 1558: 1554: 1550: 1546: 1542: 1538: 1535:(3): 530–42. 1534: 1530: 1526: 1521: 1517: 1513: 1509: 1505: 1501: 1497: 1494:(5): 514–21. 1493: 1489: 1488: 1482: 1478: 1474: 1470: 1466: 1462: 1458: 1454: 1450: 1445: 1441: 1437: 1432: 1427: 1422: 1421:10.1186/rr180 1417: 1413: 1409: 1405: 1400: 1396: 1392: 1388: 1384: 1380: 1376: 1372: 1367: 1363: 1359: 1354: 1349: 1345: 1341: 1337: 1332: 1331: 1326: 1317: 1313: 1309: 1305: 1301: 1297: 1290: 1287: 1282: 1276: 1273: 1270: 1264: 1261: 1258: 1253: 1250: 1246: 1242: 1236: 1233: 1229: 1225: 1219: 1216: 1211: 1207: 1203: 1199: 1195: 1191: 1184: 1182: 1180: 1176: 1171: 1167: 1162: 1157: 1153: 1149: 1144: 1139: 1135: 1131: 1127: 1120: 1117: 1112: 1108: 1104: 1100: 1095: 1090: 1087:(15): e94-7. 1086: 1082: 1078: 1071: 1069: 1067: 1063: 1055: 1049: 1046: 1041: 1037: 1032: 1027: 1023: 1019: 1015: 1008: 1005: 1000: 996: 992: 988: 984: 980: 975: 970: 966: 962: 958: 951: 948: 937:on 2011-07-27 936: 932: 928: 921: 918: 913: 907: 904: 899: 895: 890: 885: 881: 877: 873: 866: 863: 858: 854: 850: 846: 842: 838: 834: 830: 826: 822: 815: 812: 807: 803: 799: 795: 791: 787: 784:(4): 367–79. 783: 779: 772: 769: 764: 760: 756: 752: 748: 744: 737: 734: 729: 725: 721: 717: 713: 709: 702: 699: 694: 690: 687:(4): 344–56. 686: 682: 681:Haematologica 678: 671: 668: 657:on 2020-01-28 653: 649: 645: 640: 635: 631: 627: 623: 619: 612: 605: 602: 595: 591: 588: 587: 583: 581: 578: 574: 570: 566: 562: 557: 555: 552:, and recent 551: 547: 543: 539: 535: 531: 526: 522: 513: 511: 509: 505: 501: 497: 493: 489: 485: 477: 475: 473: 469: 465: 461: 458: 453: 449: 440: 438: 436: 432: 428: 424: 420: 416: 412: 408: 404: 400: 396: 392: 388: 383: 381: 377: 373: 369: 365: 361: 357: 353: 349: 345: 341: 337: 333: 322: 318: 317: 316: 314: 313:anticoagulant 311:is a natural 310: 306: 302: 298: 294: 291: 287: 283: 279: 269: 266: 264: 260: 256: 253: 250: 248: 244: 241: 238: 236: 232: 229: 226: 224: 220: 217: 216:Human SNPView 214: 212: 208: 204: 199: 196: 193: 191: 187: 184: 181: 179: 175: 171: 167: 162: 156: 154: 147: 144: 141: 138: 135: 132: 128: 124: 123: 122: 119: 112: 110: 108: 104: 101: 98: 94: 90: 86: 82: 78: 74: 70: 66: 63: 62: 57: 53: 45: 42: 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Activated 284:to activate 274: 151: 120: 116: 64: 60: 59: 55: 51: 50: 2098:aggregation 1980:Rose's sign 1950:Homans sign 1782:Coagulation 1608:GeneReviews 1574:GeneReviews 1081:Circulation 967:(1): 3–10. 882:(1): 1–16. 573:miscarriage 470:, and then 286:prothrombin 164:SNP: rs6025 2366:Categories 2330:Hematocele 2295:Hemothorax 2270:Hemoptysis 2142:Hemophilia 1914:Thrombosis 1718:DiseasesDB 1618:2008-06-20 941:2008-09-10 661:2020-01-28 596:References 577:stillbirth 542:homozygous 534:homozygous 504:homozygous 478:Management 427:homozygous 372:amino acid 336:penetrance 297:fibrinogen 190:Chromosome 107:penetrance 81:hereditary 44:Hematology 2320:Hemobilia 2265:Epistaxis 1852:Platelets 1152:1178-2048 1136:: 451–9. 1103:0009-7322 983:1528-0020 561:pregnancy 538:recurrent 523:(DVT) or 441:Diagnosis 380:glutamine 362:10. As a 309:protein C 282:factor Xa 280:to allow 268:SI001216K 97:autosomal 77:protein C 39:Specialty 2311:abdomen 2234:Petechia 2229:Hematoma 2219:Bleeding 2086:adhesion 2012:By cause 2005:Bleeding 1909:Thrombus 1808:By cause 1801:Clotting 1771:clotting 1767:bleeding 1676:: D68.51 1582:20301542 1557:29406966 1549:17849041 1516:34399027 1508:16681418 1477:13215200 1469:11950687 1440:11806843 1414:(1): 8. 1395:12421138 1362:18854273 1316:18669729 1222:Ridker, 1170:26316770 1111:12707252 1040:10828239 991:12070000 931:PharmGKB 898:21116184 806:45534038 648:31676865 584:See also 565:estrogen 563:(and on 376:arginine 350:of this 348:Mutation 299:to form 293:thrombin 278:cofactor 183:Factor V 100:dominant 85:disorder 69:factor V 2280:Hyphema 2255:By site 2239:Purpura 1933:By site 1712:C095381 1663:3B61.0Y 1239:Gregg, 1210:8790269 1161:4544622 999:9556602 914:. NCBI. 857:4314040 849:8164741 829:Bibcode 798:9763354 763:9415695 728:9109469 693:7590506 639:6858581 554:surgery 546:smoking 500:heparin 397:to the 368:protein 247:SNPedia 211:Ensembl 169:Name(s) 65:p.R506Q 2341:joint 2291:torso 2224:Bruise 2147:A/VIII 1701:188055 1690:289.81 1598:(MeSH) 1580:  1555:  1547:  1514:  1506:  1475:  1467:  1438:  1428:  1393:  1360:  1314:  1241:et al. 1224:et al. 1208:  1168:  1158:  1150:  1109:  1101:  1038:  997:  989:  981:  896:  855:  847:  821:Nature 804:  796:  761:  726:  691:  646:  636:  431:allele 411:stroke 301:fibrin 290:enzyme 263:ALFRED 235:HapMap 89:Leiden 56:rs6025 2261:head 1896:Clots 1553:S2CID 1512:S2CID 1473:S2CID 1431:64819 1245:Supra 1228:Supra 1057:(PDF) 995:S2CID 961:Blood 853:S2CID 802:S2CID 655:(PDF) 614:(PDF) 462:, so 395:heart 387:veins 374:from 223:dbSNP 2157:C/XI 2152:B/IX 1769:and 1707:MeSH 1696:OMIM 1685:9-CM 1578:PMID 1545:PMID 1504:PMID 1465:PMID 1436:PMID 1391:PMID 1358:PMID 1312:PMID 1206:PMID 1166:PMID 1148:ISSN 1107:PMID 1099:ISSN 1036:PMID 987:PMID 979:ISSN 894:PMID 845:PMID 794:PMID 759:PMID 724:PMID 708:JAMA 689:PMID 644:PMID 575:and 508:oral 468:MnlI 460:MnlI 452:aPTT 399:lung 360:exon 352:gene 340:gene 305:clot 252:6025 240:6025 228:6025 178:Gene 2049:TTP 2032:ITP 1874:DIC 1723:154 1681:ICD 1669:ICD 1654:ICD 1537:doi 1496:doi 1457:doi 1426:PMC 1416:doi 1383:doi 1379:126 1348:doi 1344:130 1304:doi 1300:112 1257:Id. 1198:doi 1156:PMC 1138:doi 1089:doi 1085:107 1026:doi 969:doi 965:100 884:doi 837:doi 825:369 786:doi 751:doi 716:doi 712:277 634:PMC 626:doi 494:or 464:PCR 413:or 378:to 370:'s 354:—a 127:DVT 58:or 2368:: 2044:TM 2030:: 1721:: 1710:: 1699:: 1688:: 1673:10 1661:: 1658:11 1606:. 1576:. 1572:. 1551:. 1543:. 1533:98 1531:. 1527:. 1510:. 1502:. 1492:44 1490:. 1471:. 1463:. 1453:22 1451:. 1434:. 1424:. 1410:. 1406:. 1389:. 1377:. 1373:. 1356:. 1342:. 1338:. 1310:. 1298:. 1204:. 1194:71 1192:. 1178:^ 1164:. 1154:. 1146:. 1134:11 1132:. 1128:. 1105:. 1097:. 1083:. 1079:. 1065:^ 1034:. 1022:19 1020:. 1016:. 993:. 985:. 977:. 963:. 959:. 929:. 892:. 880:13 878:. 874:. 851:. 843:. 835:. 823:. 800:. 792:. 782:24 780:. 757:. 747:73 745:. 722:. 710:. 685:80 683:. 679:. 642:. 632:. 622:51 620:. 616:. 346:. 344:F5 131:PE 109:. 61:F5 1758:e 1751:t 1744:v 1683:- 1671:- 1656:- 1646:D 1621:. 1584:. 1539:: 1518:. 1498:: 1479:. 1459:: 1442:. 1418:: 1412:3 1397:. 1385:: 1364:. 1350:: 1318:. 1306:: 1283:. 1247:. 1230:. 1212:. 1200:: 1172:. 1140:: 1113:. 1091:: 1059:. 1042:. 1028:: 1001:. 971:: 944:. 900:. 886:: 859:. 839:: 831:: 808:. 788:: 765:. 753:: 730:. 718:: 695:. 664:. 628:: 528:( 195:1 54:( 20:)

Index

Factor V Leiden mutation
Specialty
Hematology
factor V
hypercoagulability
protein C
hereditary
disorder
Leiden
venous thromboembolisms
autosomal
dominant
genetic disorder
penetrance
DVT
PE
Gene
Factor V
Chromosome
1
Ensembl
Human SNPView
dbSNP
6025
HapMap
6025
SNPedia
6025
ALFRED
SI001216K

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