hereditary Thrombophilia

Thrombophilia due to congenital factors. Germline mutations in the F5 gene have been identified for Protein C/Factor V Leiden (OMIM: 188055), in the HRG gene for histidine-rich glycoprotein deficiency (OMIM: 613116); PROC gene for PROTEIN C DEFICIENCY (OMIM: 176860); and the PROS1 gene for PROTEIN S DEFICIENCY (OMIM: 612336)

Also Known As:

Networked: 192 relevant articles (2 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Iron Deficiencies
2.	Venous Thrombosis (Deep-Vein Thrombosis)
3.	Embolism (Embolus)
4.	Disseminated Intravascular Coagulation
5.	Thrombosis (Thrombus)

Experts

1.	Gausman, Jana N: 3 articles (01/2017 - 01/2017)
2.	Marlar, Richard A: 3 articles (01/2017 - 01/2017)
3.	Tsuda, Hiroko: 2 articles (09/2021 - 12/2019)
4.	Elalamy, Ismail: 2 articles (11/2020 - 01/2004)
5.	Beksac, Mehmet Sinan: 2 articles (10/2019 - 01/2016)
6.	Annichino-Bizzacchi, Joyce M: 2 articles (01/2019 - 07/2009)
7.	Khor, Bernard: 2 articles (01/2016 - 05/2012)
8.	Van Cott, Elizabeth M: 2 articles (01/2016 - 05/2012)
9.	Beuter-Winkler, Petra: 2 articles (03/2014 - 12/2013)
10.	Bohlmann, Michael K: 2 articles (03/2014 - 12/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to hereditary Thrombophilia:

1.	Heparin (Liquaemin)FDA LinkGeneric 01/01/2007 - " is a lack of prospective randomized studies to prove the benefit of heparin treatment in patients with hereditary thrombophilia. " 09/01/2001 - "The placental histology and outcome of 39 pregnancies in 24 women with hereditary thrombophilia were studied, and pregnancies which were treated with heparin were compared with those without treatment. " 09/01/2001 - "Heparin therapy is likely to be useful in preventing miscarriage in cases of hereditary thrombophilia." 03/01/2018 - "In contrast to antiphospholipid syndrome, the current data from studies on recurrent spontaneous abortion do not support the prophylactic administration of heparin to treat women with maternal hereditary thrombophilia in subsequent pregnancies. " 06/01/2016 - "Regardless of heparin therapy, patients with hereditary thrombophilia alone had a significantly better perinatal outcome as compared with women who, along with hereditary thrombophilia, had a history of habitual abortions (p=0.035) or intrauterine fetal death (p=0.033). "
2.	Antithrombin IIIIBA 03/01/1982 - "[Diagnosis of thrombophilia - hereditary deficiency of antithrombin III]." 09/01/2011 - "In Singapore and countries with similar demographics, hereditary thrombophilia screening should be confined to testing for protein C, protein S and antithrombin III." 08/01/1987 - "Antithrombin-III assays are performed to assess response to heparin therapy and efficacy of antithrombin concentrate therapy and in diagnosing hereditary thrombophilia, deep venous thrombosis, pulmonary embolus, and disseminated intravascular coagulation. " 03/01/2014 - "Through cross-sectional investigation, permanent Kazakh population of Ili Kazakh Autonomous Prefecture was selected as the study object to measure their antithrombin III (AT-III), protein C, protein S activity and activated C protein resistance value, thus defining the situation of the crowd's hereditary thrombophilia. " 12/01/1992 - "Hereditary thrombophilia may be due to deficiency of antithrombin III, protein C, protein S or plasminogen, some other defects being less well-established prethrombotic risk factors. "
3.	LactoferrinIBA 10/01/2014 - "Safety and efficacy of lactoferrin versus ferrous sulphate in curing iron deficiency and iron deficiency anaemia in hereditary thrombophilia pregnant women: an interventional study." 10/01/2014 - "Objective Evaluate the safety and efficacy of bovine lactoferrin (bLf) versus the ferrous sulphate standard intervention in curing iron deficiency (ID) and ID anaemia (IDA) in pregnant women affected by hereditary thrombophilia (HT). "
4.	ferrous sulfateFDA Link 10/01/2014 - "Safety and efficacy of lactoferrin versus ferrous sulphate in curing iron deficiency and iron deficiency anaemia in hereditary thrombophilia pregnant women: an interventional study." 10/01/2014 - "Objective Evaluate the safety and efficacy of bovine lactoferrin (bLf) versus the ferrous sulphate standard intervention in curing iron deficiency (ID) and ID anaemia (IDA) in pregnant women affected by hereditary thrombophilia (HT). "
5.	AntithrombinsIBA 01/01/2017 - "Assessment of Hereditary Thrombophilia: Performance of Antithrombin (AT) Testing." 01/01/2016 - "Screening for hereditary thrombophilia revealed a heterozygous antithrombin mutation in 1 girl (ie, the 15-year-old). " 10/01/2013 - "Antithrombin (AT) deficiency is one of the most common hereditary thrombophilia in Asia. " 10/01/2013 - "Rare double heterozygous mutations in antithrombin underlie hereditary thrombophilia in a Chinese family." 09/01/2001 - "Since the first patient with antithrombin deficiency was reported, various hereditary thrombophilia have been discovered. "
6.	factor V LeidenIBA 01/01/2023 - "The objective of this study was to characterize the perioperative and postoperative outcomes of patients with Factor V Leiden compared to patients without a diagnosis of hereditary thrombophilia. " 01/01/2011 - "Another Egyptian study concluded that hereditary thrombophilia was common in children with PVT (62.5%), the commonest being factor V Leiden mutation (FVL) (30%). " 07/01/2022 - "Factor V Leiden (FVL) is a hereditary thrombophilia, which causes the blood to be more hypercoagulable; in essence, the blood tends to clot more easily, especially under certain circumstances. " 09/28/2016 - "Factor V Leiden (FVL) mutation is the most common hereditary thrombophilia. " 10/01/2009 - "This prospective cohort study tested whether the most common hereditary thrombophilia, factor V Leiden (FVL) mutation, is associated with nonpregnancy after IVF. "
7.	Prothrombin (Factor II)IBA 01/01/2022 - "It is clearly evident that the polymorphisms of prothrombin gene rs3136447 and rs5896 may be associated with hereditary thrombophilia in Xinjiang Kazaks." 07/01/2016 - "This review of prothrombin G20210A prevalence may guide resourceful screening for identification of hereditary thrombophilia in female populations of interest with hypercoagulable states. " 03/01/2014 - "rs5896 and rs2070852 had high linkage disequilibrium (r = 0.99), and constituted a single-domain block 1. The rs3136447 and the rs5896 polymorphisms located in the region of the prothrombin gene may be associated with hereditary thrombophilia in the Xinjiang Kazakhs population. " 03/01/2014 - "To assess the association between polymorphisms of prothrombin gene and hereditary thrombophilia in Xinjiang Kazakhs population. " 03/01/2014 - "Association between prothrombin gene polymorphisms and hereditary thrombophilia in Xinjiang Kazakhs population."
8.	Low-Molecular-Weight Heparin (Heparin, Low Molecular Weight)IBA 04/01/2021 - "We performed meta-analysis of randomized controlled trials (RCTs) comparing low molecular weight heparin (LMWH) versus No LMWH in women with or without hereditary thrombophilia and RPL. " 06/01/2016 - "The aim of the study was to establish the importance of low molecular weight heparin (LMWH) treatment for good pregnancy outcome in patients with hereditary thrombophilia. " 01/01/2016 - "Meta-analysis of randomized controlled trials evaluating LMWH + ASA compared to ASA in pregnant women with hereditary thrombophilia in order to improve live birth rate. " 01/01/2023 - "A point of view on hereditary thrombophilia and low-molecular-weight heparin incorporating the management in pregnancy and involving thyroidology." 01/01/2023 - "Hereditary thrombophilia and low -molecular -weight heparin in women: useful determinants, including thyroid dysfunction, incorporating the management of treatment and outcomes of the entity."
9.	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/01/2004 - "The aim of this study was to evaluate the effect of treatment in patients analyzed for recurrent spontaneous miscarriage with a diagnosis of a hereditary thrombophilia, the presence of antiphospholipid and/or autoimmune antibodies, and/or hyperhomocystinemia (HHC) with or without methylenetetrahydrofolate reductase (MTHFR) polymorphisms. " 04/01/2007 - "The aim of this study was to determine the frequency of FV Leiden and coinheritance of FV Leiden with two other frequent hereditary thrombophilia causes, namely, prothrombin G20210A and methylene-tetrahydrofolate reductase (MTHFR) C677T mutation in the Aegean region of Turkey. " 08/01/2012 - "To determine the prevalence and the role of hereditary thrombophilia caused by Factor V Leiden (G1691A), prothrombin G20210A or methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations in recurrent pregnancy loss. " 01/01/2016 - "The frequently assessed hereditary thrombophilia mutations associated with stroke are methylenetetrahydrofolate reductase (MTHFR) c.677C>T, Factor V (F5) c.1691G>A (Leiden), and prothrombin (F2) c.20210G>A. " 10/14/2019 - "The patients were retrospectively assessed for the presence of hereditary thrombophilia, methylenetetrahydrofolate reductase (MTHFR) polymorphisms, serum vitamin B12/folate/homocysteine levels, and autoimmune antibody positivity. "
10.	Aspirin (Acetylsalicylic Acid)FDA LinkGeneric 01/01/2011 - "Eighty milligram acetylsalicylic acid treatment was started just after the diagnosis for the patients with hereditary thrombophilia, continued throughout pregnancy and ceased 3 days before the delivery. " 01/01/2016 - "Low-molecular-weight heparin plus aspirin versus aspirin alone in pregnant women with hereditary thrombophilia to improve live birth rate: meta-analysis of randomized controlled trials." 01/01/2016 - "To determine in women with hereditary thrombophilia whether the use of the combination of low-molecular-weight heparin (LMWH) and aspirin (ASA) is better than ASA alone. " 01/21/2009 - "In the other study, 107 women with consecutive recurrent miscarriage without any apparent cause and no hereditary thrombophilia were randomised between enoxaparin and aspirin. "

Therapies and Procedures

1.	Therapeutics 01/01/2021 - "However, identifying a hereditary thrombophilia by itself does not necessarily change outcomes or dictate therapy. " 06/01/2008 - "So far, there is no consensus whether hereditary thrombophilia should be considered as a persistent risk factor, and whether it requires long-term anticoagulant therapy. " 12/01/2011 - "Because of the severe clinical findings and hereditary thrombophilia, we recommended a lifelong anticoagulant therapy and elastic stockings. " 01/01/2016 - "Anticoagulant therapy improves pregnancy complications and live birth rates in patients with RPL and hereditary thrombophilia." 09/01/2001 - "Heparin therapy is likely to be useful in preventing miscarriage in cases of hereditary thrombophilia."
2.	Catheters 01/01/2021 - "This study aimed to evaluate hereditary thrombophilia factors in HD patients and its association with tunneled cuffed catheters' thrombosis. " 01/01/2021 - "Conclusion: In this small group of our patients, the frequency of hereditary thrombophilia was not significantly different between those with and without thrombosis of tunneled HD catheter." 01/01/2021 - "The association between hereditary thrombophilia factors and catheter thrombosis was not statistically significant (P > 0.05). " 01/01/2021 - "Hereditary thrombophilia and thrombosis of tunneled hemodialysis catheters: A single center study."
3.	Renal Dialysis (Hemodialysis) 01/01/2021 - "Hereditary thrombophilia and thrombosis of tunneled hemodialysis catheters: A single center study."
4.	Duration of Therapy 02/01/2004 - "Further studies are necessary to address the following: the importance of risk factors, the necessity of screening for hereditary thrombophilia, the efficacy and safety of treatment, and side effects and duration of treatment. "
5.	Central Venous Catheters 01/01/2001 - "hereditary thrombophilia or central venous catheter still in place) are present. " 08/01/2007 - "A number of patient and treatment variables have been reported to influence the risk of thrombosis including hereditary thrombophilia, early insertion of central venous catheters and exposure to a combination of steroids and asparaginase during induction. "