Anticoagulation Therapy in a Patient With Heterozygous Factor V Leiden and Coexisting Homozygous Prothrombin Gene Mutations

Costa, Ryder L; Triggs, M.; Cole, Shelbie E; Lacey, Joshua; Reddy, S.

doi:10.7759/cureus.11949

Cited by 5 publications

(3 citation statements)

References 9 publications

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“…While the management of VTE among PTM patients is infrequently reported in the literature, Costa and colleagues reported the case of a PTM homozygote with coexisting FVL who was prescribed enoxaparin in the acute setting and placed on apixaban for indefinite anticoagulation. 58 The authors reported a favorable d-dimer response and suggested that this treatment option can be considered for unprovoked VTE in the context of inherited thrombophilia. Likewise, patients such as ours with elevated D-dimer levels >5000 mg/dL may be suitable candidates for trending the treatment response to anticoagulation with novel oral anticoagulants.…”

Section: Discussionmentioning

confidence: 99%

Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review

Elkattawy

Alyacoub

Singh

et al. 2022

Journal of Investigative Medicine High Impact Case Reports

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Inherited thrombophilia is an important cause of venous thrombosis. The Factor V Leiden (FVL) is the most commonly encountered mutation, followed by the prothrombin G20210A gene mutation (PTM). The typical venous thrombotic events (VTEs) associated with PTM mutations are deep vein thrombosis (DVT) and pulmonary embolisms (PE). The PTM is inherited in an autosomal dominant pattern with variable penetrance. While heterozygous PTM mutations are more frequent and well documented in the literature, rare cases of homozygous PTM mutations are also reported. In this report, we discuss a 56-year-old male with a past medical history of homozygous prothrombin gene mutation (G20210A) who presented with an unprovoked DVT of the right lower extremity involving both the proximal and distal veins associated with multiple bilateral PEs. This case is unique in terms of the homozygous PTM inheritance, the age at which the patient presented (usually presentation is earlier in life), and the fact that he had a recurrence of both DVT and PE simultaneously.

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Section: Discussionmentioning

confidence: 99%

Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review

Elkattawy

Alyacoub

Singh

et al. 2022

Journal of Investigative Medicine High Impact Case Reports

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“…To our knowledge, there are only a limited number of reported cases of patients carrying homozygous F2 c.20210G>A variant, and the majority of these cases presented with unprovoked thromboembolism [8][9][10][11][12]. Our first case is unique in that the patient had no history of thromboembolism or family history of thromboembolism until his presentation with PE following surgery for malignancy.…”

Section: Figure 1: Mechanism Of Action Of Common F2 and F5 Variantsmentioning

confidence: 89%

Homozygous Carriers of F2 c.20210G>A Variant: A Report of Two Cases and Literature Review

Raymond¹,

Bui²,

Jiang³

2023

Cureus

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Thromboembolism is known to be a multifactorial event that is impacted by various genetic and environmental factors. The genetics society's recommended name for this variant is c.*97G>A (this is the nomenclature we need to use in the patient report). However, people have been using legacy names c.20210G>A or G20210A (so these are common names). One of the most common genetic variants associated with inherited thrombophilias, F2 c.20210G>A is acknowledged to be a weak but significant risk factor for thromboembolism. However, its clinical presentation has been described as phenotypically heterogeneous. We present two rare cases with homozygous F2 c.20210G>A variant, one of which also carries a heterozygous variant in coagulation factor V gene F5, c.1601G>A (p.Arg534Gln; commonly known as factor V Leiden). We described the clinical courses of these two cases and discussed F2 c.20210G>A and factor V Leiden as genetic risk factors in thromboembolism, the role of provoking factors, such as surgery and malignancy, and the management of such patients.

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“…Several case reports have described patients who presented with VTE in the context of severe thrombophilia, such as PS deficiency, and were successfully treated with edoxaban [68,69] or rivaroxaban [70][71][72][73][74]; PC deficiency successfully treated with rivaroxaban [75,76] or edoxaban [77,78]; AT deficiency successfully treated with apixaban [79] or rivaroxaban [80]; homozygous FVL mutation successfully treated with rivaroxaban [81]; or double heterozygous FVL and F2 c.*97G>A mutations successfully treated with apixaban [82]. One case of a patient with severe hypofibrinogenemia successfully treated with rivaroxaban shows how challenging therapeutic management can become during the perioperative period [83].…”

Section: Place Of Doac For the Treatment Of Vtd In Patients With Inhe...mentioning

confidence: 99%

Inherited Thrombophilia in the Era of Direct Oral Anticoagulants

Khider

Gendron

Mauge

2022

IJMS

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Severe inherited thrombophilia includes rare deficiencies of natural anticoagulants (antithrombin and proteins C and S) and homozygous or combined factor V Leiden and FII G20210A variants. They are associated with a high thrombosis risk and can impact the duration of anticoagulation therapy for patients with a venous thromboembolism (VTE) event. Therefore, it is important to diagnose thrombophilia and to use adapted anticoagulant therapy. The widespread use of direct anticoagulants (DOACs) for VTE has raised new issues concerning inherited thrombophilia. Concerning inherited thrombophilia diagnosis, DOACs are directed toward either FIIa or FXa and can therefore interfere with coagulation assays. This paper reports DOAC interference in several thrombophilia tests, including the assessment of antithrombin, protein S, and protein C activities. Antithrombin activity and clot-based assays used for proteins C and S can be overestimated, with a risk of missing a deficiency. The use of a device to remove DOACs should be considered to minimize the risk of false-negative results. The place of DOACs in the treatment of VTE in thrombophilia patients is also discussed. Available data are encouraging, but given the variability in thrombosis risk within natural anticoagulant deficiencies, evidence in patients with well-characterized thrombophilia would be useful.

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Anticoagulation Therapy in a Patient With Heterozygous Factor V Leiden and Coexisting Homozygous Prothrombin Gene Mutations

Cited by 5 publications

References 9 publications

Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review

Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review

Homozygous Carriers of F2 c.20210G>A Variant: A Report of Two Cases and Literature Review

Inherited Thrombophilia in the Era of Direct Oral Anticoagulants

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