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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

Issues in the Diagnosis and Management of Hereditary Antithrombin Deficiency.
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
Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.
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
Management of thrombophilia.
Bauer KA
J Thromb Haemost 2003 Jul;1(7):1429-34. doi: 10.1046/j.1538-7836.2003.00274.x. PMID: 12871277

Curated

UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2020

Recent clinical studies

Etiology

Combined Oral Contraceptives and Venous Thromboembolism: Review and Perspective to Mitigate the Risk.
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
Direct Oral Anticoagulants in Select Patients With Hypercoagulable Disorders.
Valanejad SM, Davis KA
Ann Pharmacother 2021 Jul;55(7):891-901. Epub 2020 Oct 26 doi: 10.1177/1060028020968551. PMID: 33100017
Hereditary thrombophilia.
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
Thrombophilia, risk factors and prevention.
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
Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.
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

Venous Thromboembolism Issues in Women.
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
Hereditary thrombophilia.
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
Hereditary Thrombophilia and Recurrent Pregnancy Loss.
Pritchard AM, Hendrix PW, Paidas MJ
Clin Obstet Gynecol 2016 Sep;59(3):487-97. doi: 10.1097/GRF.0000000000000226. PMID: 27427827
Issues in the Diagnosis and Management of Hereditary Antithrombin Deficiency.
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
Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.
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

Venous Thromboembolism Issues in Women.
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
Combined Oral Contraceptives and Venous Thromboembolism: Review and Perspective to Mitigate the Risk.
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
Direct Oral Anticoagulants in Select Patients With Hypercoagulable Disorders.
Valanejad SM, Davis KA
Ann Pharmacother 2021 Jul;55(7):891-901. Epub 2020 Oct 26 doi: 10.1177/1060028020968551. PMID: 33100017
Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis.
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
Factor V Leiden.
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

Impact of hereditary thrombophilia on cancer-associated thrombosis, tumour susceptibility and progression: A review of existing evidence.
Tavares V, Neto BV, Vilas-Boas MI, Pereira D, Medeiros R
Biochim Biophys Acta Rev Cancer 2022 Sep;1877(5):188778. Epub 2022 Aug 10 doi: 10.1016/j.bbcan.2022.188778. PMID: 35963552
Combined Oral Contraceptives and Venous Thromboembolism: Review and Perspective to Mitigate the Risk.
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
Osteonecrosis of the Femoral Head in Patients with Hypercoagulability-From Pathophysiology to Therapeutic Implications.
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
Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.
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
Modulating thrombotic diathesis in hereditary thrombophilia and antiphospholipid antibody syndrome: a role for circulating microparticles?
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

Clinical prediction guides

Today's view of hereditary thrombophilia.
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
Combined Oral Contraceptives and Venous Thromboembolism: Review and Perspective to Mitigate the Risk.
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
Hereditary thrombophilia and recurrent pregnancy loss: a systematic review and meta-analysis.
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
Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.
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
Clinical aspects and laboratory problems in hereditary thrombophilia.
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

Hereditary thrombophilia and recurrent pregnancy loss: a systematic review and meta-analysis.
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
Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.
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
A systematic review of portomesenteric vein thrombosis after sleeve gastrectomy.
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
Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis.
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
Systematic review: hereditary thrombophilia associated to pediatric strokes and cerebral palsy.
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

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      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, 2020
      UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2020

    Consumer resources

    Reviews

    Related information

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      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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