U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary thrombophilia

MedGen UID:
391721
Concept ID:
C2584620
Disease or Syndrome
Synonym: Inherited thrombophilia
SNOMED CT: Hereditary thrombophilia (439698008); Hereditary hypercoagulable disorder (439698008); Primary thrombophilia (439698008)
 
Monarch Initiative: MONDO:0100240
OMIM® Phenotypic series: PS188050
Orphanet: ORPHA217454

Definition

An instance of thrombophilia that is inherited. [from MONDO]

Professional guidelines

PubMed

Kobayashi T, Morishita E, Tsuda H, Neki R, Kojima T, Ohga S, Ochiai M, Adachi T, Miyata T
J Obstet Gynaecol Res 2021 Sep;47(9):3008-3033. Epub 2021 Jun 24 doi: 10.1111/jog.14879. PMID: 34169611
Bauer KA, Nguyen-Cao TM, Spears JB
Ann Pharmacother 2016 Sep;50(9):758-67. Epub 2016 Jun 8 doi: 10.1177/1060028016651276. PMID: 27281301
Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M, Lim W, Douketis JD
J Thromb Thrombolysis 2016 Jan;41(1):154-64. doi: 10.1007/s11239-015-1316-1. PMID: 26780744Free PMC Article

Curated

UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2023

Recent clinical studies

Etiology

Morimont L, Haguet H, Dogné JM, Gaspard U, Douxfils J
Front Endocrinol (Lausanne) 2021;12:769187. Epub 2021 Dec 9 doi: 10.3389/fendo.2021.769187. PMID: 34956081Free PMC Article
Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):44-46. doi: 10.23750/abm.v90i10-S.8758. PMID: 31577252Free PMC Article
Campello E, Spiezia L, Adamo A, Simioni P
Expert Rev Hematol 2019 Mar;12(3):147-158. Epub 2019 Feb 26 doi: 10.1080/17474086.2019.1583555. PMID: 30773075
van Vlijmen EF, Wiewel-Verschueren S, Monster TB, Meijer K
J Thromb Haemost 2016 Jul;14(7):1393-403. Epub 2016 Jun 16 doi: 10.1111/jth.13349. PMID: 27121914
Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M, Lim W, Douketis JD
J Thromb Thrombolysis 2016 Jan;41(1):154-64. doi: 10.1007/s11239-015-1316-1. PMID: 26780744Free PMC Article

Diagnosis

Linnemann B, Rott H, Zotz R, Hart C
Hamostaseologie 2022 Oct;42(5):290-299. Epub 2022 Nov 2 doi: 10.1055/a-1919-9558. PMID: 36323276
Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):44-46. doi: 10.23750/abm.v90i10-S.8758. PMID: 31577252Free PMC Article
Pruthi RK
Int J Lab Hematol 2017 May;39 Suppl 1:104-110. doi: 10.1111/ijlh.12672. PMID: 28447412
Pritchard AM, Hendrix PW, Paidas MJ
Clin Obstet Gynecol 2016 Sep;59(3):487-97. doi: 10.1097/GRF.0000000000000226. PMID: 27427827
Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M, Lim W, Douketis JD
J Thromb Thrombolysis 2016 Jan;41(1):154-64. doi: 10.1007/s11239-015-1316-1. PMID: 26780744Free PMC Article

Therapy

Morimont L, Haguet H, Dogné JM, Gaspard U, Douxfils J
Front Endocrinol (Lausanne) 2021;12:769187. Epub 2021 Dec 9 doi: 10.3389/fendo.2021.769187. PMID: 34956081Free PMC Article
Liu X, Chen Y, Ye C, Xing D, Wu R, Li F, Chen L, Wang T
Hum Reprod 2021 Apr 20;36(5):1213-1229. doi: 10.1093/humrep/deab010. PMID: 33575779
Valanejad SM, Davis KA
Ann Pharmacother 2021 Jul;55(7):891-901. Epub 2020 Oct 26 doi: 10.1177/1060028020968551. PMID: 33100017
van Vlijmen EF, Wiewel-Verschueren S, Monster TB, Meijer K
J Thromb Haemost 2016 Jul;14(7):1393-403. Epub 2016 Jun 16 doi: 10.1111/jth.13349. PMID: 27121914
Van Cott EM, Khor B, Zehnder JL
Am J Hematol 2016 Jan;91(1):46-9. Epub 2015 Nov 17 doi: 10.1002/ajh.24222. PMID: 26492443

Prognosis

Morimont L, Haguet H, Dogné JM, Gaspard U, Douxfils J
Front Endocrinol (Lausanne) 2021;12:769187. Epub 2021 Dec 9 doi: 10.3389/fendo.2021.769187. PMID: 34956081Free PMC Article
Rezus E, Tamba BI, Badescu MC, Popescu D, Bratoiu I, Rezus C
Int J Mol Sci 2021 Jun 24;22(13) doi: 10.3390/ijms22136801. PMID: 34202897Free PMC Article
Croles FN, Nasserinejad K, Duvekot JJ, Kruip MJ, Meijer K, Leebeek FW
BMJ 2017 Oct 26;359:j4452. doi: 10.1136/bmj.j4452. PMID: 29074563Free PMC Article
Campello E, Radu CM, Spiezia L, Simioni P
Clin Chem Lab Med 2017 Jun 27;55(7):934-943. doi: 10.1515/cclm-2016-0562. PMID: 27816948
Couturaud F, Kearon C
Curr Opin Pulm Med 2010 Sep;16(5):453-8. doi: 10.1097/MCP.0b013e32833bde6b. PMID: 20592597

Clinical prediction guides

Kvasnička J, Kovářová-Kudrnová Z, Zenáhlíková Z, Brzežková R, Šťastná S, Bobčíková P, Kvasnička T
Vnitr Lek 2022 Winter;68(8):488-492. doi: 10.36290/vnl.2022.105. PMID: 36575065
Morimont L, Haguet H, Dogné JM, Gaspard U, Douxfils J
Front Endocrinol (Lausanne) 2021;12:769187. Epub 2021 Dec 9 doi: 10.3389/fendo.2021.769187. PMID: 34956081Free PMC Article
Liu X, Chen Y, Ye C, Xing D, Wu R, Li F, Chen L, Wang T
Hum Reprod 2021 Apr 20;36(5):1213-1229. doi: 10.1093/humrep/deab010. PMID: 33575779
Croles FN, Nasserinejad K, Duvekot JJ, Kruip MJ, Meijer K, Leebeek FW
BMJ 2017 Oct 26;359:j4452. doi: 10.1136/bmj.j4452. PMID: 29074563Free PMC Article
Samama M, Gerotziafas G, Conard J, Horellou M, Elalamy I
Haemostasis 1999;29(2-3):76-99. doi: 10.1159/000022491. PMID: 10629390

Recent systematic reviews

Liu X, Chen Y, Ye C, Xing D, Wu R, Li F, Chen L, Wang T
Hum Reprod 2021 Apr 20;36(5):1213-1229. doi: 10.1093/humrep/deab010. PMID: 33575779
Croles FN, Nasserinejad K, Duvekot JJ, Kruip MJ, Meijer K, Leebeek FW
BMJ 2017 Oct 26;359:j4452. doi: 10.1136/bmj.j4452. PMID: 29074563Free PMC Article
Shaheen O, Siejka J, Thatigotla B, Pham DT
Surg Obes Relat Dis 2017 Aug;13(8):1422-1431. Epub 2017 Mar 27 doi: 10.1016/j.soard.2017.03.015. PMID: 28526434
van Vlijmen EF, Wiewel-Verschueren S, Monster TB, Meijer K
J Thromb Haemost 2016 Jul;14(7):1393-403. Epub 2016 Jun 16 doi: 10.1111/jth.13349. PMID: 27121914
Torres VM, Saddi VA
J Pediatr (Rio J) 2015 Jan-Feb;91(1):22-9. Epub 2014 Oct 16 doi: 10.1016/j.jped.2014.08.004. PMID: 25451211

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2023

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...