Background/aims: Patients with inflammatory bowel disease (IBD) have an increased risk for thromboembolic complications. We investigated the incidence of factor V Leiden G1691A, methylene tetrahydrofolate reductase (MTHFR) C677T, and prothrombin G20210A mutation in 27 Turkish IBD patients with no history of thromboembolic disease.
Methodology: Twenty-seven patients, 22 with ulcerative colitis (UC) and 5 with Crohn's disease (CD), and 47 healthy were included to the study. The DNAs were obtained from peripheral blood by using pure polymerase chain kit. Then, factor V Leiden G1691A, which active protein C resistance positive, prothrombin G20210A and MTHFR C677T mutations were investigated in DNA by using LightCycler-Factor V Leiden G1691A mutation, Prothrombin G20210A and MTHFR C677T estimate kits.
Results: The heterozygote factor V Leiden G1691A mutation was detected in 3 (11.1%) patients with IBD and 2 (4.3%) controls (p > 0.05). The homozygote factor V Leiden G1691A mutation was not estimated among patients and controls. Heterozygote prothrombin G20210A mutation was detected in 2 (7.4%) patients with IBD and in 0 (0%) controls (p > 0.05). There was no homozygote prothrombin G20210A mutation in IBD and controls. Heterozygote MTHFR C677T mutation was 10 of 27 (37%) patients with IBD while 15 of 47 (32%) controls (p > 0.05). Homozygote MTHFR C677T mutation was detected in 4 patients (14.9%) with IBD and 3 (6.3%) controls (p > 0.05).
Conclusions: Our study did not reveal any association between IBD and the most common hereditary thrombophilic factors and these mutations interfere with neither disease manifestations nor the thrombotic complications.
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Cureus
October 2024
Internal Medicine, County Emergency Clinical Hospital of Targu Mures, Targu Mures, ROU.
Although thrombotic events are uncommon in young individuals, patients with genetic mutations in coagulation factors may develop extensive multisite thrombosis. We present the case of a 26-year-old patient, a smoker for nine years, who was admitted to the hospital complaining of right thigh pain with swelling, right flank abdominal pain, dyspnea, and hemoptysis. A medical history provided by the patient indicated that one month prior to presentation, an accidental fall had resulted in multiple rib fractures, bilateral hemopneumothorax, and pneumomediastinum.
View Article and Find Full Text PDFMed Sci (Basel)
November 2024
Dietetetics and Biomedical Department, School of Health Sciences Aegean College, 45 Tsimiski Str., 54623 Thessaloniki, Greece.
Background: Thrombophilia, characterized by an increased risk of thrombosis, can result from genetic polymorphisms in clotting factors. This study aims to investigate the prevalence of factor V Leiden (G1691A), factor II prothrombin (G20210A), and MTHFR (C677T and A1298C) polymorphisms in a Greek population, evaluating not only their association with thrombophilia, but also broader health implications.
Methods: We conducted a cross-sectional study involving one hundred apparently healthy adults from Thessaloniki, Greece.
BMC Pregnancy Childbirth
November 2024
Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University Medical Faculty, Ankara, Turkey.
Objective: Thrombophilia screening has been performed in patients with conditions such as previous fetal death, (fetal growth restriction) FGR, preeclampsia, (hemolysis. elevated liver enzyme, low platelet count) HELLP Syndrome, previous abruptio placentae, previous thrombosis in pregnancy, and abnormal placental histology. The actual role of hereditary thrombophilia in recurrent pregnancy loss (RPL) is still debated.
View Article and Find Full Text PDFAm J Cardiol
January 2025
Department of Cardiology, Koşuyolu Kartal Heart Training and Research Hospital, Istanbul, Türkiye; Division of Health Sciences, Ardahan University, Ardahan, Türkiye.
Prosthetic valve thrombosis (PVT) is a critical and life-threatening condition driven by multifactorial etiologies, including genetic predispositions. The study was designed as a single-center retrospective manner. Echocardiographic features and genetic test including factor II/prothrombin (G20210A), factor V Leiden (G1691A), factor V R2 (A4070G), apolipoprotein (Apo) B-100 (G10708A), ApoE (C112R), ApoE (R158C), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, factor XIII G103T (V34L), β-fibrinogen (455G>A), PAI-1 4G/5G, and HPA-1 GPIIIa (T196C) genotyping variations were assessed.
View Article and Find Full Text PDFAnn Hematol
November 2024
Pediatric Department, Minia University, Al Minya, Egypt.
In neonates admitted to the neonatal intensive care unit (NICU), arterial and venous thromboembolism is a major cause of morbidity and death which could be attributed to multiple risk factors exposure. This study aimed to evaluate the clinical characteristics, laboratory and radiological assessments, predisposing risk factors, and outcomes of thrombosis in neonates admitted to NICU. This prospective cohort study was conducted at NICU, Minia, and Alexandria University Children's Hospital.
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