We present the case of a 28-year-old woman who was admitted to our cardiology unit for acute coronary syndrome. Her history was notable for cardiovascular disease familiarity, active smoking, and oral contraceptive use. On further analysis, she was noted to have thrombophilic polymorphisms involving the plasminogen activator inhibitor (PAI), angiotensin-converting enzyme (ACE), and methylenetetrahydrofolate reductase (MTHFR) genes. We discuss the implications that these cofactors may have had in the genesis of the disease.
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http://dx.doi.org/10.1155/2014/249715 | DOI Listing |
Clin Appl Thromb Hemost
August 2024
Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
Introduction: Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637).
Methods: The SNPs of the following genes were investigated: (F V Leiden, rs6025), prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), (rs2289252) and (non-O, rs8176719) in both groups.
Combined thrombophilia represents 7.8-8.3% of the patients with thrombophilia and confers a higher risk for thrombosis development and recurrence.
View Article and Find Full Text PDFIndian J Hematol Blood Transfus
April 2024
Department of Hematology, Level 5, Research Block A, Postgraduate Institute of Medical Education and Research (PGIMER), Sector 12, Chandigarh, 160012 India.
J Pers Med
April 2024
Unit of Obstetrics and Gynecology, "Paolo Giaccone" Hospital, 90127 Palermo, Italy.
Background: Despite pregnancy's hypercoagulable state, the correlation between inherited thrombophilia and thrombotic adverse pregnancy outcomes remains uncertain. The objective of this study was to determine the prevalence of inherited thrombophilic polymorphisms among asymptomatic pregnant individuals and to examine their potential correlation with adverse perinatal outcomes.
Methods: in this single-center prospective study, 105 healthy pregnant women were included.
J Clin Med
December 2023
Institute of Clinical Chemistry, University Hospital of Kiel & Lübeck, 23538 Lübeck, Germany.
Background: Congenital factor VII (FVII) deficiency, a rare bleeding disorder resulting from mutations in the F7 gene with autosomal recessive inheritance, exhibits clinical heterogeneity that lacks a strong correlation with FVII:C levels. The objective of this study was to discern genetic defects and assess their associations with the clinical phenotype in a substantial cohort comprising 785 white women exhibiting FVII:C levels below the age-dependent cut-off percentage.
Patients And Methods: Individuals with verified inherited factor VII deficiency underwent i) genotyping using the Sanger method and multiplex ligation-dependent probe amplification (MLPA) to identify F7 mutations, including common polymorphic variants.
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