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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, 2023

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
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
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

Diagnosis

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
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
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
Venous thromboembolism: risk factors for recurrence.
Zhu T, Martinez I, Emmerich J
Arterioscler Thromb Vasc Biol 2009 Mar;29(3):298-310. doi: 10.1161/ATVBAHA.108.182428. PMID: 19228602
Factor V.
Rosing J, Tans G
Int J Biochem Cell Biol 1997 Oct;29(10):1123-6. doi: 10.1016/s1357-2725(97)00040-x. PMID: 9438374

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

Investigating the Impact on Long-Term Outcomes and the Necessity of Hereditary Thrombophilia Screening in Presumed or Perinatal Arterial Ischemic Stroke.
Bektaş Ö, Göktaş ÖA, Atasay B, Teber S
Clin Appl Thromb Hemost 2024 Jan-Dec;30:10760296241231944. doi: 10.1177/10760296241231944. PMID: 38327150Free PMC Article
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
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
Venous thromboembolism: risk factors for recurrence.
Zhu T, Martinez I, Emmerich J
Arterioscler Thromb Vasc Biol 2009 Mar;29(3):298-310. doi: 10.1161/ATVBAHA.108.182428. PMID: 19228602
Risk factors for thrombosis and bleeding and their influence on therapeutic decisions in patients with essential thrombocythemia.
Griesshammer M
Semin Thromb Hemost 2006 Jun;32(4 Pt 2):372-80. doi: 10.1055/s-2006-942758. PMID: 16810613

Clinical prediction guides

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
Abdominal Wall Endometriosis: Two Case Reports and Literature Review.
Doroftei B, Armeanu T, Maftei R, Ilie OD, Dabuleanu AM, Condac C
Medicina (Kaunas) 2020 Dec 21;56(12) doi: 10.3390/medicina56120727. PMID: 33371515Free 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
Venous thromboembolism: risk factors for recurrence.
Zhu T, Martinez I, Emmerich J
Arterioscler Thromb Vasc Biol 2009 Mar;29(3):298-310. doi: 10.1161/ATVBAHA.108.182428. PMID: 19228602

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
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
Global prevalence of prothrombin gene mutation G20210A and implications in women's health: a systematic review.
Dziadosz M, Baxi LV
Blood Coagul Fibrinolysis 2016 Jul;27(5):481-9. doi: 10.1097/MBC.0000000000000562. PMID: 27058219
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

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    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

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