5 results on '"Sophie Wiewel-Verschueren"'
Search Results
2. Factor 11 single-nucleotide variants in women with heavy menstrual bleeding
- Author
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Karina Meijer, René Mulder, Sophie Wiewel-Verschueren, Andre B. Mulder, Vascular Ageing Programme (VAP), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), and Stem Cell Aging Leukemia and Lymphoma (SALL)
- Subjects
Adult ,0301 basic medicine ,Excessive Bleeding ,VENOUS THROMBOSIS ,MISSENSE MUTATIONS ,Pathology ,medicine.medical_specialty ,PARTIAL THROMBOPLASTIN TIME ,Factor XI Deficiency ,Genome-wide association study ,030204 cardiovascular system & hematology ,Polymorphism, Single Nucleotide ,Gastroenterology ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Humans ,Medicine ,Missense mutation ,Clinical significance ,DEEP-VEIN THROMBOSIS ,GENOME-WIDE ASSOCIATION ,skin and connective tissue diseases ,Menorrhagia ,Factor XI ,single-nucleotide variants ,RISK ,FACTOR-XI DEFICIENCY ,medicine.diagnostic_test ,business.industry ,Heavy menstrual bleeding ,Obstetrics and Gynecology ,Exons ,Middle Aged ,medicine.disease ,factor XI ,BLOOD-COAGULATION FACTOR ,Thrombosis ,Introns ,MOLECULAR-GENETIC ANALYSIS ,Venous thrombosis ,030104 developmental biology ,Case-Control Studies ,Female ,business ,human activities ,F11 MUTATIONS ,Partial thromboplastin time - Abstract
In a previous study it was shown that lower factor XI (FXI) levels in women with heavy menstrual bleeding (HMB). Our aim was to determine the single-nucleotide variants (SNVs) in the F11 gene in women with HMB. In addition, an extensive literature search was performed to determine the clinical significance of each SNV. Patients referred for HMB (PBAC-score100) were included. With direct sequencing analysis of all 15 exons and flanking introns of the F11 gene, 29 different non-structural SNVs were detected in 49 patients with HMB. Interestingly, most of these SNVs have previously been associated with venous thrombosis instead of bleeding. These findings have not helped to elucidate the molecular basis of HMB. They also question the specificity of previously reported F11 variations in patients with thrombosis. More studies are needed to explain the lower FXI levels seen in patients with HMB. IMPACT STATEMENT Women with mild deficiencies of factor XI (FXI) ( 70%) are prone to excessive bleeding during menstruation. Bleeding manifestations are not well correlated with plasma FXI levels and bleeding episodes can vary widely among patients with similar low FXI levels. In a previous study we showed that women with heavy menstrual bleeding (HMB) had normal, but on average, lower levels of FXI than controls. In light of these findings, we performed F11 gene analysis to determine the single-nucleotide variants (SNVs) in women with HMB and performed an extensive literature search to determine the clinical significance of each SNV. By direct sequencing analysis of the F11 gene we found 29 different non-structural SNVs in 49 women with heavy menstrual bleeding. Remarkably, a number of these SNVs have previously been implicated in thrombosis. These findings have not helped to elucidate the molecular basis of lower FXI levels in HMB. They also question the specificity of previously reported F11 variations in patients with thrombosis. More studies are needed to explain the lower FXI levels seen in patients with HMB.
- Published
- 2017
3. Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta‐analysis
- Author
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Sophie Wiewel-Verschueren, T. B. M. Monster, E. F. W. van Vlijmen, and Karina Meijer
- Subjects
030204 cardiovascular system & hematology ,Rate ratio ,FAMILY-HISTORY ,Cohort Studies ,0302 clinical medicine ,Risk Factors ,Protein C deficiency ,FACTOR-V-LEIDEN ,Thrombophilia ,DEEP-VEIN THROMBOSIS ,030212 general & internal medicine ,Protein S deficiency ,PROTEIN-C-DEFICIENCY ,biology ,Obstetrics ,Factor V ,Venous Thromboembolism ,Hematology ,Middle Aged ,Contraceptives, Oral, Combined ,INHERITED THROMBOPHILIA ,Female ,Prothrombin ,hereditary ,Adult ,Heterozygote ,medicine.medical_specialty ,Protein S Deficiency ,Adolescent ,HORMONAL CONTRACEPTION ,ANTITHROMBIN DEFICIENCY ,Young Adult ,03 medical and health sciences ,medicine ,Factor V Leiden ,Humans ,cardiovascular diseases ,Risk factor ,Aged ,Gynecology ,HEALTHY POPULATION ,business.industry ,Case-control study ,Anticoagulants ,Protein C Deficiency ,PROTHROMBIN 20210A ,medicine.disease ,meta-analysis ,combined oral contraceptives ,Case-Control Studies ,Mutation ,biology.protein ,G20210A MUTATION ,business - Abstract
Essentials We performed a meta-analysis on thrombosis risk in thrombophilic oral contraceptive (COC)-users. The results support discouraging COC-use in women with a natural anticoagulant deficiency. Contrary, additive risk of factor V Leiden (FVL) or prothrombin-G20210A (PT) mutation is modest. Women with a FVL/PT-mutation as single risk factor can use COCs if alternatives are not tolerated. SummaryBackground Combined oral contraceptives (COCs) are associated with an increased risk of venous thromboembolism (VTE), which is shown to be more pronounced in women with hereditary thrombophilia. Currently, WHO recommendations state that COC-use in women with hereditary thrombophilias (antithrombin deficiency, protein C deficiency, protein S deficiency, factor V Leiden and prothrombin-G20210A mutation) is associated with an unacceptable health risk. Objective To perform a meta-analysis evaluating the additional risk of VTE in COC-users with thrombophilia. Methods The MEDLINE and EMBASE databases were searched on 10 February 2015 for potential eligible studies. A distinction was made between ‘mild’ (factor V Leiden and prothrombin-G20210A mutation) and ‘severe’ thrombophilia (antithrombin deficiency, protein C deficiency, protein S deficiency, double heterozygosity or homozygosity of factor V Leiden and prothrombin-G20210A mutation). Results We identified 12 case–control and three cohort studies. In COC-users, mild and severe thrombophilia increased the risk of VTE almost 6-fold (rate ratio [RR], 5.89; 95% confidence interval [CI], 4.21–8.23) and 7-fold (RR, 7.15; 95% CI, 2.93–17.45), respectively. The cohort studies showed that absolute VTE risk was far higher in COC-users with severe thrombophilia than in those with mild thrombophilia (4.3 to 4.6 vs. 0.49 to 2.0 per 100 pill-years, respectively), and these differences in absolute risks were also noted in non-affected women (0.48 to 0.7 vs. 0.19 to 0.0), but with the caveat that absolute risks were estimated in relatives of thrombophilic patients with VTE (i.e. with a positive family history). Conclusion These results support discouraging COC-use in women with severe hereditary thrombophilia. By contrast, additive VTE risk of mild thrombophilia is modest. When no other risk factors are present, (e.g. family history) COCs can be offered to these women when reliable alternative contraceptives are not tolerated.
- Published
- 2016
4. No increased systemic fibrinolysis in women with heavy menstrual bleeding
- Author
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Johanna Kluin-Nelemans, Dick H. Bogchelman, Sophie Wiewel-Verschueren, Andre B. Mulder, van der Ate Zee, H. M. Knol, Karina Meijer, Ton Lisman, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Groningen Institute for Organ Transplantation (GIOT), Vascular Ageing Programme (VAP), Stem Cell Aging Leukemia and Lymphoma (SALL), and Targeted Gynaecologic Oncology (TARGON)
- Subjects
TAFI ,Adult ,Carboxypeptidase B2 ,medicine.medical_specialty ,Plasmin ,medicine.medical_treatment ,clot lysis time ,Hemorrhage ,Endometrium ,Gastroenterology ,Fibrin ,Body Mass Index ,Menstruation ,chemistry.chemical_compound ,BLOOD-LOSS ,Internal medicine ,Plasminogen Activator Inhibitor 1 ,Fibrinolysis ,Humans ,Medicine ,fibrin ,CYCLE ,Blood Coagulation ,Menorrhagia ,RISK ,LYSIS ,Hemostasis ,biology ,business.industry ,TRANEXAMIC ACID ,Hematology ,Middle Aged ,Healthy Volunteers ,Surgery ,medicine.anatomical_structure ,chemistry ,Case-Control Studies ,Plasminogen activator inhibitor-1 ,biology.protein ,thrombin-activatable fibrinolysis inhibitor ,Female ,Blood Coagulation Tests ,business ,Plasminogen activator ,Tranexamic acid ,medicine.drug - Abstract
BackgroundBleeding disorders have been recognized as important etiologic or contributory factors in women with heavy menstrual bleeding. Fibrinolysis in the endometrium plays a role in heavy menstrual bleeding. It is unknown whether increased systemic fibrinolysis might also increase the risk of heavy menstrual bleeding.ObjectiveTo investigate fibrinolytic parameters, including clot lysis time, in women with heavy menstrual bleeding.MethodsWe included 102 patients referred for heavy menstrual bleeding (Pictorial Bleeding Assessment Chart score of >100) in our cohort. Patients and controls (28 healthy volunteers without heavy menstrual bleeding) underwent hemostatic testing in the first week after menstruation. For 79 patients and all controls, fibrinolytic parameters (thrombin-activatable fibrinolysis inhibitor activity, and plasminogen activator inhibitor-1, tissue-type plasminogen activator and plasmin inhibitor levels) and clot lysis time were available.ResultsFibrinolytic parameters were similar between patients and controls, except for thrombin-activatable fibrinolysis inhibitor (89.4% vs. 82.5%) and plasmin inhibitor (106% vs. 96%), the levels of which which were significantly higher in patients. In women with menorrhagia without gynecologic abnormalities, we found lower thrombin-activatable fibrinolysis inhibitor and plasminogen activator inhibitor-1 levels than in women with gynecologic abnormalities (thrombin-activatable fibrinolysis inhibitor, 85.4% vs. 94.8%; plasminogen activator inhibitor-1, 16.0gL(-1) vs. 24.5gL(-1)).ConclusionSystemic fibrinolytic capacity is not increased in women with heavy menstrual bleeding. Overall, levels of the fibrinolytic inhibitors thrombin-activatable fibrinolysis inhibitor and plasmin inhibitor were even higher in patients than in controls. However, in a subgroup of women without gynecologic abnormalities, relatively lower levels of inhibitors may contribute to the heavy menstrual bleeding.
- Published
- 2014
5. Gynaecological and obstetrical bleeding in women with factor XI deficiency - a systematic review
- Author
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Karina Meijer, Sophie Wiewel-Verschueren, Vascular Ageing Programme (VAP), and Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET)
- Subjects
medicine.medical_specialty ,Factor XI Deficiency ,Rebuttal ,MEDLINE ,Hemorrhage ,030204 cardiovascular system & hematology ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Factor XI ,Genetics (clinical) ,RISK ,business.industry ,Obstetrics ,Obstetrical bleeding ,Hematology ,General Medicine ,medicine.disease ,Thrombosis ,Surgery ,THROMBOSIS ,Gynecology ,Female ,business ,030215 immunology - Published
- 2016
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