The use of direct oral anticoagulants in inherited thrombophilia

@article{Skelley2016TheUO,
  title={The use of direct oral anticoagulants in inherited thrombophilia},
  author={Jessica W. Skelley and Carl W White and Angela R. Thomason},
  journal={Journal of Thrombosis and Thrombolysis},
  year={2016},
  volume={43},
  pages={24-30}
}
To review the use of the direct oral anticoagulant (DOAC) agents in inherited thrombophilia based on the literature. MEDLINE, International Pharmaceutical Abstracts, and Google Scholar searches (1970–May 2016) were conducted for case reports, case series, retrospective cohorts, or clinical trials using the key words: protein C deficiency, protein S deficiency, antithrombin deficiency, activated protein C resistance, Factor V Leiden, hypercoagulable, NOACs, dabigatran, apixaban, rivaroxaban… 
Direct Oral Anticoagulants in Patients With Inherited Thrombophilia and Venous Thromboembolism: A Prospective Cohort Study
TLDR
DOACs and heparin/vitamin K antagonists showed a similar efficacy in treating VTE in patients with thrombophilia and the use of DOACs was associated with a lower 2‐year risk of VTE recurrence after anticoagulant discontinuation.
Apixaban Use in Patients with Protein C and S Deficiency: A Case Series and Review of Literature
TLDR
Based on the available emerging evidence and the case series, the use of apixaban could be effective in preventing recurrent thrombotic events in patients with inheritedThrombophilia without safety concerns.
Rivaroxaban Treatment for Warfarin-Refractory Thrombosis in a Patient with Hereditary Protein S Deficiency
TLDR
This case illustrates that rivaroxaban can potentially serve as therapeutic agents to treat warfarin-refractory VTE in PS-deficient patients and indicates that direct oral anticoagulants are being increasingly used for the treatment and prevention of VTE.
Rivaroxaban in Recurrent Ischemic Stroke Due to Protein S Deficiency: A Case Report
TLDR
Protein S deficiency may be a predisposing factor in recurrent ischemic stroke, and rivaroxaban can be a safe and effective treatment option, and further studies are needed to confirm these findings.
Direct Oral Anticoagulants
TLDR
The role of anticoagulation with DOACs such as rivaroxaban in patients with stable atherosclerotic vascular disease has been revisited with recent data from COMPASS, but additional studies are still needed to define its exact utility.
Management of antithrombin deficiency: an update for clinicians
TLDR
The biology, genetics, diagnosis, and management of congenital antithrombin deficiency is globally reviewed, and puzzling questions and future perspectives regarding this severe inherited thrombophilia are discussed.
Efficacy of Oral Factor Xa Inhibitor for Venous Thromboembolism in a Patient with Antithrombin Deficiency
TLDR
The patient's father had experienced multiple recurrences of venous thromboembolism (VTE) and was diagnosed with inherited antithrombin deficiency and administered the oral factor Xa inhibitor rivaroxaban, and the thrombus disappeared.
Management of antithrombin III deficiency in pregnancy: a representative case and a literature review
TLDR
A detailed analysis of the literature and clinical case of pregnancy management in a patient with AT-III deficiency, pulmonary embolism and habitual history of miscarriage has been presented and tests characterizing the dynamic blood clot parameters are used.
Management of severe congenital protein C deficiency with a direct oral anticoagulant, edoxaban: A case report
TLDR
DOAC may be a promising alternative for the management of congenital PC deficiency and increase in PC activity increased from below the sensitivity range to 17%; this increase was thought to be due to a reduction in PC consumption during edoxaban therapy.
Direct oral anticoagulants in patients with venous thromboembolism and thrombophilia: a systematic review and meta‐analysis
TLDR
DOACs were overall safe and effective in patients with venous thromboembolism and thrombophilia and was maintained in low‐risk antiphospholipid syndrome patient subgroup.
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References

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Use of New Oral Anticoagulants in Antiphospholipid Syndrome
TLDR
Clinical and laboratory aspects of the new oral anticoagulants (NOAC) include dabigatran etexilate (Pradaxa®), a direct thrombin inhibitor, and rivaroxaban (Xarelto®), Apixaban (Eliquis) and Ed Oxaban (Lixiana®), which are direct anti-Xa inhibitors.
New oral anticoagulants increase risk for gastrointestinal bleeding: a systematic review and meta-analysis.
TLDR
Studies on treatment of venous thrombosis or acute coronary syndrome have shown that patients treated with nOAC have an increased risk of GIB, compared with those who receive standard care.
Direct oral anticoagulants compared with vitamin K antagonists for acute venous thromboembolism: evidence from phase 3 trials.
TLDR
The efficacy and safety of DOACs were consistent in patients with pulmonary embolism, deep venous thrombosis, a body weight ≥100 kg, moderate renal insufficiency, an age ≥75 years, and cancer.
Influence of Thrombophilia on the Efficacy of Dabigatran Versus Warfarin for the Extended Treatment of Acute Venous Thromboembolism in RE-MEDY™
TLDR
Treatment efficacy (DE versus warfarin) was not significantly affected by the presence of thrombophilia, and the frequencies of VTE/VTE-related deaths, and of PE, in patients with and without thromBophilia are shown in the Table.
Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families.
TLDR
Factor V Leiden is associated with a relatively small risk of thrombosis, lower than that for antithrombin, protein C, or protein S deficiency, and individuals with factor VLeiden develop less severeThrombotic manifestations, such as superficial vein thromboembolism.
Failure of dabigatran and rivaroxaban to prevent thromboembolism in antiphospholipid syndrome: a case series of three patients.
TLDR
Direct oral factor inhibitors are an attractive alternative to vitamin K antagonists (VKA) for the treatment of patients with antiphospholipid syndrome (APS) but reports of therapeutic failures in clinical practice alert clinicians to potential limitations of DOFI therapy for this indication.
Thrombotic events in patients with antiphospholipid syndrome treated with rivaroxaban: a series of eight cases
TLDR
Until the results of ongoing trials of rivaroxaban for APS are presented, NOAC should not be recommended to APS patients, and there is a high-risk group that is less protected with rivroxaban, namely those with previous arterial thrombosis or triple positivity.
The impact of bleeding complications in patients receiving target-specific oral anticoagulants: a systematic review and meta-analysis.
TLDR
A systematic review and meta-analysis of phase-3 randomized controlled trials to assess the bleeding side effects of TSOACs compared with VKAs in patients with venous thromboembolism or atrial fibrillation found they are associated with less major bleeding, fatal bleeding, intracranial bleeding, clinically relevant nonmajor bleeding, and total bleeding.
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TLDR
A fixed-dose regimen of apixaban alone was noninferior to conventional therapy for the treatment of acute venous thromboembolism and was associated with significantly less bleeding.
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