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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

Peripartum management of hereditary thrombophilia: results of primary surveillance in Japan.
Kobayashi T, Sugiura K, Ojima T, Hirai K, Morishita E
Int J Hematol 2022 Sep;116(3):364-371. Epub 2022 May 12 doi: 10.1007/s12185-022-03354-4. PMID: 35551617
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

Curated

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

Recent clinical studies

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
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
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

Gene editing of human iPSCs rescues thrombophilia in hereditary antithrombin deficiency in mice.
Tang LV, Tao Y, Feng Y, Ma J, Lin W, Zhang Y, Zhang Y, Wu T, Cai Y, Lu H, Wei J, Corral J, Hu Y
Sci Transl Med 2022 Nov 30;14(673):eabq3202. doi: 10.1126/scitranslmed.abq3202. PMID: 36449603
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
Sex, thrombosis and inherited thrombophilia.
Bleker SM, Coppens M, Middeldorp S
Blood Rev 2014 May;28(3):123-33. Epub 2014 Apr 1 doi: 10.1016/j.blre.2014.03.005. PMID: 24768093

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

    Consumer resources

    Reviews

    Related information

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