{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T06:13:38Z","timestamp":1780467218247,"version":"3.54.1"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,2,18]],"date-time":"2016-02-18T00:00:00Z","timestamp":1455753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001422","name":"American Society of Hematology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001422","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000030","name":"Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["# 1U01DD000292\u201001"],"award-info":[{"award-number":["# 1U01DD000292\u201001"]}],"id":[{"id":"10.13039\/100000030","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000030","name":"Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["U27DD00326"],"award-info":[{"award-number":["U27DD00326"]}],"id":[{"id":"10.13039\/100000030","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The risk of thrombosis in individuals with rare compound thrombophilias, homozygous factor V Leiden (<jats:styled-content style=\"fixed-case\">FVL<\/jats:styled-content>) plus heterozygous prothrombin G20210A (<jats:styled-content style=\"fixed-case\">PTM<\/jats:styled-content>), homozygous <jats:styled-content style=\"fixed-case\">PTM<\/jats:styled-content> plus heterozygous <jats:styled-content style=\"fixed-case\">FVL<\/jats:styled-content>, and homozygous <jats:styled-content style=\"fixed-case\">FVL<\/jats:styled-content> plus homozygous <jats:styled-content style=\"fixed-case\">PTM<\/jats:styled-content>, is unknown. We identified, worldwide, individuals with these compound thrombophilias, predominantly through mailing members of the International Society on Thrombosis and Haemostasis. Physicians were sent a clinical questionnaire. Confirmatory copies of the genetic results were obtained. One hundred individuals were enrolled; 58% were female. Seventy\u2010one individuals had a venous thrombosis (includes superficial and deep vein thrombosis, and pulmonary embolism), 4 had an arterial thrombosis and 6 had both. Nineteen individuals had never had a thrombotic event. Thrombosis\u2010free survival curves demonstrated that 50% of individuals had experienced a thrombotic event by 35 yrs of age, while 50% had a first venous thromboembolic event (<jats:styled-content style=\"fixed-case\">VTE<\/jats:styled-content>; includes all venous thrombosis except superficial thrombosis) by 41 yrs of age; 38.2% of first <jats:styled-content style=\"fixed-case\">VTE<\/jats:styled-content>s were unprovoked. 37% of patients had at least one <jats:styled-content style=\"fixed-case\">VTE<\/jats:styled-content> recurrence. Seventy percent of first pregnancies carried to term and not treated with anticoagulation were thrombosis\u2010free. In conclusion, patients with these rare compound thrombophilias are not exceedingly thrombogenic, even though they have a substantial risk for <jats:styled-content style=\"fixed-case\">VTE<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/ejh.12738","type":"journal-article","created":{"date-parts":[[2016,1,16]],"date-time":"2016-01-16T18:14:18Z","timestamp":1452968058000},"page":"353-360","source":"Crossref","is-referenced-by-count":13,"title":["Thrombophilic risk of individuals with rare compound factor V Leiden and prothrombin G20210A polymorphisms: an international case series of 100 individuals"],"prefix":"10.1111","volume":"97","author":[{"given":"Ming Y.","family":"Lim","sequence":"first","affiliation":[{"name":"Division of Hematology\/Oncology Department of Medicine University of North Carolina Chapel Hill NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison M.","family":"Deal","sequence":"additional","affiliation":[{"name":"Lineberger Comprehensive Cancer Center Biostatistics Core Chapel Hill NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Kim","sequence":"additional","affiliation":[{"name":"Hematology\/Oncology St. Jude Heritage Medical Group Fullerton CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Musty","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics &amp; Precision Medicine Duke University Medical Center Durham NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Conard","sequence":"additional","affiliation":[{"name":"Haemostasis\u2010Thrombosis Unit Hotel\u2010Dieu University Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Simioni","sequence":"additional","affiliation":[{"name":"Department of Medicine \u2013 DIMED University of Padua Medical School Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Dutrillaux","sequence":"additional","affiliation":[{"name":"Haemostasis Unit University Hospital of Dijon Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suhair S.","family":"Eid","sequence":"additional","affiliation":[{"name":"Princess Iman Research and Laboratory Sciences Center King Hussein Medical Center Amman Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Middeldorp","sequence":"additional","affiliation":[{"name":"Academic Medical Center Department of Vascular Medicine Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter M.","family":"Halbmayer","sequence":"additional","affiliation":[{"name":"Institute of Laboratory Medicine Municipal Hospital Hietzing\u2010Rosenhuegel Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Boneu","sequence":"additional","affiliation":[{"name":"Haemostasis Laboratory Rangueil Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Moia","sequence":"additional","affiliation":[{"name":"Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Moll","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology Department of Medicine University of North Carolina Chapel Hill NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/369064a0"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V88.10.3698.bloodjournal88103698"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10654-013-9825-8"},{"key":"e_1_2_8_5_1","doi-asserted-by":"crossref","first-page":"1828","DOI":"10.1182\/blood.V94.5.1828","article-title":"Double\u2010homozygosity for factor V Leiden and the prothrombin gene G20210A variant in a young patient with idiopathic venous thrombosis","volume":"94","author":"Mainardi JR","year":"1999","journal-title":"Blood"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/000331970005100408"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001721-200012000-00013"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001721-200006000-00010"},{"key":"e_1_2_8_9_1","first-page":"1230","article-title":"A boy with venous thrombosis, homozygous for factor V Leiden, prothrombin G20210A and MTHFR C667t mutations, but belonging to an asymptomatic family","volume":"85","author":"Soria JM","year":"2000","journal-title":"Haematologica"},{"key":"e_1_2_8_10_1","first-page":"ECR30","article-title":"Venous thromboembolism in a young woman with combined homozygosity for factor V Leiden and prothrombin G20210A mutations","volume":"90","author":"Leonard M","year":"2005","journal-title":"Haematologica"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0049-3848(00)00355-8"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001721-199907000-00012"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001721-199903000-00008"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001721-199707000-00010"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1999.01362.x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.5858\/2001-125-0105-CFVLAP","article-title":"Combined factor V Leiden and prothrombin genotyping in patients presenting with thromboembolic episodes","volume":"125","author":"Friedline JA","year":"2001","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0049-3848(98)00178-9"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001721-200009000-00002"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-05-503649"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-03-345678"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.19.3.511"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11239-012-0824-5"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117623"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1998.01028.x"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.906347"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2009.853"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-12-512681"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-07-518423"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2010.08529.x"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-8703(03)00519-2"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)17018-9"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2010.04038.x"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fejh.12738","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ejh.12738","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T12:02:22Z","timestamp":1695556942000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ejh.12738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,18]]},"references-count":31,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1111\/ejh.12738"],"URL":"https:\/\/doi.org\/10.1111\/ejh.12738","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,18]]}}}