A rare case of catastrophic antiphospholipid syndrome triggered by estrogen‐containing oral contraceptives in a patient with double heterozygous factor V Leiden and prothrombin G20210A mutations

2021 ◽  
Author(s):  
Hannah L. McRae ◽  
Annie H. Yang ◽  
Karen Kruzer ◽  
Glynis A. Scott ◽  
Majed A. Refaai
Keyword(s):  
Antiphospholipid Syndrome ◽  
Oral Contraceptives ◽  
Rare Case ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Catastrophic Antiphospholipid Syndrome

scholarly journals Oral contraceptives, hormone replacement therapy, thrombophilias and risk of venous thromboembolism: a systematic review

2005 ◽  
Vol 94 (07) ◽  
pp. 17-25 ◽  
Author(s):  
Olivia Wu ◽  
Lindsay Robertson ◽  
Peter Langhorne ◽  
Sara Twaddle ◽  
Gordon D. O. Lowe ◽  
...  
Keyword(s):  
Systematic Review ◽  
Hormone Replacement Therapy ◽  
Venous Thromboembolism ◽  
Replacement Therapy ◽  
Oral Contraceptives ◽  
Hormone Replacement ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Menopausal Women

SummaryCombined oral contraceptives, oral hormone replacement therapy and thrombophilias are recognised risk factors for venous thromboembolism in women. The objective of this study was to assess the risk of thromboembolism among women with thrombophilia who are taking oral contraceptives or hormone replacement therapy, conducting a systematic review and metaanalysis. Of 201 studies identified, only nine met the inclusion criteria. Seven studies included pre-menopausal women on oral contraceptives and two studies included peri-menopausal women on hormone replacement therapy. For oral contraceptive use, significant associations of the risk of venous thromboembolism were found in women with factor V Leiden (OR 15.62; 95%CI 8.66 to 28.15); deficiencies of antithrombin (OR 12.60; 95%CI 1.37 to 115.79), protein C (OR 6.33; 95%CI 1.68 to 23.87), or protein S (OR 4.88; 95%CI 1.39 to 17.10), elevated levels of factor VIIIc (OR 8.80; 95%CI 4.13 to 18.75); and factor V Leiden and prothrombin G20210A (OR 7.85; 95%CI 1.65 to 37.41). For hormone replacement therapy, a significant association was found in women with factor V Leiden (OR 13.16; 95%CI 4.28 to 40.47).Although limited by the small number of studies, the findings of this study support the presence of interaction between thrombophilia and venous thromboembolism among women taking oral contraceptives. However, further studies are required to establish with greater confidence the associations of these, and other, thrombophilias with venous thromboembolism among hormone users.

Direct Oral Anticoagulants in Select Patients With Hypercoagulable Disorders

2020 ◽  
pp. 106002802096855
Author(s):  
Sara M. Valanejad ◽  
Kyle A. Davis
Keyword(s):  
Antiphospholipid Syndrome ◽  
Oral Anticoagulants ◽  
Direct Oral Anticoagulants ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Protein C Deficiency ◽  
Antithrombin Deficiency ◽  
Safety And Efficacy ◽  
Hereditary Thrombophilia

Objective: To summarize the literature assessing the safety and efficacy of direct oral anticoagulants (DOACs) for the acute treatment and secondary prevention of venous thromboembolism (VTE) in select patients with hypercoagulable disorders. Data Sources: An electronic PubMed literature search was conducted from January 2010 to July 2020 using the following keywords: DOAC, rivaroxaban, apixaban, dabigatran, edoxaban, thrombophilia, cancer, antiphospholipid syndrome, protein C deficiency, protein S deficiency, antithrombin deficiency, factor V Leiden, prothrombin G20210A gene mutation, congenital thrombophilia, hypercoagulable, hereditary thrombophilia, acquired thrombophilia. Study Selection and Data Extraction: Articles were included if they reported clinical outcomes associated with cancer-associated VTE, antiphospholipid syndrome (APS), and other hereditary thrombophilias. Data Synthesis: The safety and efficacy of using a DOAC is highly dependent on the type of hypercoagulable disease state. Current trials support the use of edoxaban, rivaroxaban, and apixaban for the treatment of cancer-associated thrombosis (CAT), with apixaban being preferred because of lower bleeding rates compared with standard of care. The use of DOACs, especially rivaroxaban, have been associated with worse outcomes in patients with APS, whereas data on DOAC use in hereditary thrombophilia remains scarce and limited to low-risk patients. Relevance to Patient Care and Clinical Practice: This review evaluates the literature assessing the safety and efficacy of DOACs in patients with various hypercoagulable disorders. Conclusions: The current body of evidence supports the use of select DOACs for the treatment of CAT. In contrast, DOAC use in patients with APS and hereditary thrombophilia should be avoided at this time.

The Prevalence and Clinical Significance of Inherited Thrombophilic Risk Factors in Patients with Antiphospholipid Syndrome.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4050-4050
Author(s):  
Reyhan Diz-Kucukkaya ◽  
Murat Inanc ◽  
Yuksel Pekcelen
Keyword(s):  
Risk Factors ◽  
Antiphospholipid Syndrome ◽  
Factor V Leiden ◽  
Protein S ◽  
First Trimester ◽  
Prothrombin G20210a ◽  
Antiphospholipid Antibody ◽  
Factor V ◽  
Healthy Controls ◽  
G20210a Mutation

Abstract Antiphospholipid syndrome (APS) is defined as the occurrence of thrombosis and/or recurrent fetal losses in association with the presence of antiphospholipid antibodies (APLA). Although it has been suggested that APLA have a pathogenic role in the thrombotic complications of APS, pathogenicity of APLA has not been conclusively proven. It has been speculated that other inherited or acquired thrombogenic risk factors might influence the development of thrombosis in patients with APS. In the present study, we examined the effect of well known inherited thrombophilic risk factors (inherited protein C (PC), protein S (PS) and antithrombin (AT) deficiencies; factor V Leiden (FVL) G1691A mutation, and prothrombin G20210A mutation) in the development of thrombosis in APS patients. Seventy-three definite APS patients with arterial and venous thrombosis (group 1: APS patients with thrombosis), 29 antiphospholipid antibody-positive patients with first trimester abortus and/or thrombocytopenia and no history of thrombosis (group 2: APLA-positive patients without thrombosis), and 126 healthy controls (group 3) were included into the study. PC, PS, and AT deficiencies were screened with functional assays; the presence of FVL mutation and prothrombin mutation were detected by polymerase chain reaction. PS and AT activities were found to be normal in all groups. Only a single APS patient with thrombosis had been found to have PC deficiency, PC activities were normal in both APLA-positive patients without thrombosis and healthy controls. The frequencies of FVL A allele for APS patients with thrombosis, APLA-positive patients without thrombosis, and healthy controls were 10.4%, 6.8%, and 4.9%, respectively. The frequency of FVL A allele was significantly higher in APS patients with thrombosis compared with healthy controls (10.4% vs 4.9%, p= 0.02 with chi-square test). The frequencies of prothrombin A allele for APS patients with thrombosis, APLA-positive patients without thrombosis and healthy controls were 3.4%, 0%, and 1.3%, respectively. Although the frequency of A allele was higher in APS patients with thrombosis compared with both APLA-positive patients without thrombosis and healthy controls, it was not statistically significant. Our results showed that inherited PC, PS, AT deficiencies, and prothrombin G20210A mutation are not common in patients with APS. FVL G1691A mutation may contribute to the development of thrombosis in a small group of APS patients. This study suggests that the known inherited thrombophilic risk factors are not responsible for the development of thrombosis in the majority of APS patients. Further prospective studies in larger cohorts of patients are needed to delineate the exact role of thrombophilic mutations in the development of thrombosis in APS.

Association of increased C-Reactive Protein and hypocomplementemia with risk factors for thrombosis in women who have susceptibility for poor gestational outcome; importance of preconceptional counseling

2021 ◽  
pp. 1-6
Author(s):  
Mehmet Sinan Beksac ◽  
Hanife Guler Donmez
Keyword(s):  
Risk Factors ◽  
Inflammatory Diseases ◽  
Factor V Leiden ◽  
Care Program ◽  
Prothrombin G20210a ◽  
Study Group ◽  
Factor V ◽  
C Reactive Protein ◽  
Mthfr Polymorphisms ◽  
Reactive Protein

This study aimed to investigate the association of increased C-Reactive Protein (CRP) and hypocomplementemia with risk factors for thrombosis such as Factor V Leiden (FVLP) and Prothrombin G20210A polymorphisms (PP), increased Activated Protein C Resistance (APCR) and decreased anti-thrombin III (ATIII) activity in women who have metabolic (MTHFR polymorphisms) and immunological risk factors (autoimmune antibody positivity, autoimmune disorders, and chronic inflammatory diseases). All patients (n= 197) were evaluated in terms of risk factors for thrombosis including FVLP, PP, increased APCR, and decreased ATIII activity as well as CRP and complement (C) 3 and C4 levels within a framework of preconceptional care program. Patients with high CRP levels together with hypocomplementemia were included to the study group (n= 13), while women with normal levels of CRP, C3, and C4 were accepted as controls (n= 184). Decreased ATIII activity was found to be statistically more frequent in the study group compared to controls (p= 0.036). There were no significant differences between the study and control groups in terms of the presence of FVLP, PP and increased APCR (p= 0.386, p= 0.462, p= 0.625, respectively). Decreased ATIII activity should be the concern of preconceptional and antenatal care programs in risky patients with increased CRP levels and hypocomplementemia in order to prevent placental inflammation related gestational complications.

Thromboembolism in heart transplantation: Role of prothrombin G20210A and factor V Leiden

2005 ◽  
Vol 24 (2) ◽  
pp. S123
Author(s):  
S.G. Miriuka ◽  
L.J. Langman ◽  
J. Evrovski ◽  
S.E. Miner ◽  
S. Kozuszko ◽  
...  
Keyword(s):  
Heart Transplantation ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V

Basal high-sensitivity-C-reactive protein levels in patients with spontaneous venous thromboembolism

2005 ◽  
Vol 93 (03) ◽  
pp. 488-493 ◽  
Author(s):  
Rainer Vormittag ◽  
Thomas Vukovich ◽  
Verena Schönauer ◽  
Stephan Lehr ◽  
Erich Minar ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Statistical Significance ◽  
Factor V Leiden ◽  
High Sensitivity ◽  
Prothrombin G20210a ◽  
Factor V ◽  
C Reactive Protein ◽  
Reactive Protein ◽  
Hs Crp

SummaryThe role of C-reactive protein (CRP) in venous thromboembolism (VTE) is still under discussion because of controversial results in the literature. Conflicting data may have partly been due to bias by exogenous factors altering CRP levels. We investigated CRP concentrations in patients with spontaneous VTE applying a study design that allowed the measurement of basal high sensitivity (hs)-CRP levels. Patients with a history of deep vein thrombosis (DVT, n=117) and pulmonary embolism (PE, n=97) were compared to healthy individuals (n=104). Hs-CRP levels (mg/dl) were significantly higher in patients (n=214, median/interquartile range: 0.171/0.082–0.366) than in controls (0.099/0.053–0.245, p=0.001). The unadjusted odds ratio (OR) for VTE per 1 mg/dl increase of CRP was 2.8 [95% confidence interval (CI): 1.1–6.8, p=0.03]. This association remained significant after adjustment for factor V Leiden, prothrombin G20210A and factor VIII activity above 230% (OR = 2.9, 95% CI [1.1–7.5]), but became remarkably attenuated and lost its statistical significance after adjustment for BMI alone (OR = 1.7 [0.7–4.0]). CRP was also not independently associated with VTE in subgroups of patients (those with DVT without symptomatic PE, those with PE and patients without established risk factor) in multiple regression analysis. In summary, we observed significantly higher basal hs-CRP levels in patients with spontaneous VTE compared to healthy controls. This association was independent of hereditary and laboratory risk factors for VTE, but lost its significance after adjustment for BMI. Increased basal CRP levels do not appear to represent an independent risk factor for VTE.

scholarly journals Prevalence of factor V G1691A (factor V-Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population

2002 ◽  
Vol 71 (4) ◽  
pp. 300-305 ◽  
Author(s):  
Ramzi R. Finan ◽  
Hala Tamim ◽  
Ghada Ameen ◽  
Huda E. Sharida ◽  
Mooza Rashid ◽  
...  
Keyword(s):  
Recurrent Miscarriage ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V G1691a
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