Search results for "Factor V Leiden"

showing 10 items of 30 documents

Arterial Embolism to the Upper Extremity in a Patient with Factor V Leiden Mutation (APC Resistance)

2003

Factor V Leiden mutation has emerged as one of the leading abnormalities in inherited blood coagulation disorders, resulting in a markedly increased risk for deep leg vein thrombosis. A 24- year-old woman presented with acute onset of critical ischemia of her left thumb and index finger. Intraarterial angiography revealed an embolus in the distal radial artery and a thrombotic occlusion of the digital artery of the thumb and index finger. Immediate therapy encompassed a selective surgical embolectomy of the distal radial artery followed by a local intraarterial lysis that was continued for 3 days. Additionally, therapeutic anticoagulation and vasodilating drugs (prostaglandin E) were admin…

Adult0301 basic medicinemedicine.medical_specialtyArterial embolismmedicine.medical_treatmentEmbolectomy030204 cardiovascular system & hematologyFingers03 medical and health sciences0302 clinical medicineEmbolusIschemiaThromboembolismmedicine.arterymedicineFactor V LeidenHumansRadial arteryActivated Protein C Resistancemedicine.diagnostic_testbiologybusiness.industryFactor Vmedicine.diseaseCapillary refillSurgeryRadiographybody regions030104 developmental biologyThumbEmbolismRadial Arterybiology.proteinFemaleCardiology and Cardiovascular MedicinebusinessAngiology
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Increased risk for venous thrombosis in carriers of the prothrombin G→A20210 gene variant

1998

A mutation in the prothrombin gene (G--A20210) has been associated with higher plasma prothrombin levels and an increased tendency for venous thrombosis.To determine whether the prothrombin A20210 allele is independently associated with the occurrence of venous thrombosis.Case-control study.Two thrombosis centers in southern Italy.281 consecutive patients with venous thrombosis confirmed by objective tests and 850 controls.Medical history was collected on standardized questionnaires. The presence of prothrombin G--A2020 and factor V Leiden mutations was determined by polymerase chain reaction. The presence of anticoagulant factors and prothrombin activity was determined by tests of function…

AdultMaleHeterozygotePathologymedicine.medical_specialtyAdolescentStatistics as TopicGastroenterologyRisk FactorsSurveys and Questionnaireshemic and lymphatic diseasesInternal medicineBlood plasmaInternal MedicinemedicineFactor V LeidenHumansPoint MutationRisk factorChildVeinAllelesAgedAged 80 and overbusiness.industryVascular diseaseFactor VGeneral MedicineMiddle AgedThrombophlebitismedicine.diseaseThrombosisPulmonary embolismVenous thrombosismedicine.anatomical_structureCase-Control StudiesChild PreschoolMutationFemaleProthrombinbusinesscirculatory and respiratory physiology
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Thromboembolic events in Fabry disease and the impact of factor V Leiden

2015

Although several reports suggest an increased thromboembolic event rate, especially regarding strokes and TIAs at early age in patients with Fabry disease (FD), the risk for patients with FD to experience these events, the clinical relevance of additional risk factors including the concurrence of factor V Leiden (FVL), and the benefit of enzyme replacement therapy (ERT) regarding these events remain unclear.Three hundred four consecutively recruited patients with FD were evaluated for their lifetime occurrence of thromboembolic events such as stroke, TIA, deep vein thrombosis, and pulmonary embolism. The thromboembolic risk was determined in patients with FD and concurrent FVL, and the impa…

AdultMaleRiskmedicine.medical_specialtyAdolescentEndocrinology Diabetes and MetabolismDeep veinComorbidityBiochemistryYoung AdultEndocrinologyInternal medicineGeneticsmedicineFactor V LeidenHumansEnzyme Replacement TherapyChildMolecular BiologyStrokeAgedAged 80 and overVenous Thrombosisbusiness.industryHazard ratioFactor VEnzyme replacement therapyMiddle Agedmedicine.diseaseFabry diseaseThrombosisComorbidityPulmonary embolismStrokemedicine.anatomical_structureIschemic Attack TransientChild PreschoolFabry DiseaseFemaleNeurology (clinical)Pulmonary EmbolismbusinessNeurology
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Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behcet's disease and deep vein thrombosis

2004

OBJECTIVE: To evaluate the frequency and type of vascular lesions and to study the association of factor V gene G1691A (Leiden) and prothrombin gene G20210A polymorphisms with venous thrombosis in Italian patients with Behçet's disease (BD). METHODS: Included were 118 consecutive Italian BD patients followed over a 3-year period (1997-1999) who satisfied the International Study Group criteria for BD. The control group consisted of 132 healthy Italian blood donors. All BD patients and controls were genotyped by polymerase chain reaction and allele-specific restriction enzyme techniques for factor V Leiden and prothrombin gene G20210A polymorphisms. RESULTS: Vascular lesions were observed in …

AdultMaleVenous ThrombosisFactor V Leiden mutation Prothrombin G20210A mutationAdolescentGenotypeBehcet SyndromeFactor VMiddle AgedBehc ̧et’s disease; Deep vein thrombosis; Factor V Leiden mutation Prothrombin G20210A mutationAdolescent; Adult; Behcet Syndrome; Factor V; Female; Gene Frequency; Genotype; Humans; Italy; Male; Middle Aged; Prothrombin; Risk Factors; Venous Thrombosis; Point MutationGene FrequencyItalyDeep vein thrombosiRisk FactorsFactor V Leiden mutationHumansPoint MutationFemaleProthrombinProthrombin G20210A mutationBehcet’s disease
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Role of factor V Leiden or G20210A prothrombin mutation in patients with symptomatic pulmonary embolism and deep vein thrombosis: a meta-analysis of …

2012

AdultMalemedicine.medical_specialtyAdolescentDeep veinRisk AssessmentGastroenterologyYoung AdultRisk FactorsInternal medicineOdds RatiomedicineFactor V LeidenHumansGenetic Predisposition to DiseaseIn patientChildBlood CoagulationAgedAged 80 and overVenous ThrombosisChi-Square DistributionProthrombin mutationbusiness.industryFactor VHematologyOdds ratioMiddle Agedmedicine.diseaseThrombosisSurgeryPulmonary embolismPhenotypemedicine.anatomical_structureMeta-analysisMutationFemaleProthrombinPulmonary Embolismbusiness
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Coexistence of thrombophilic gene polymorphisms among 559 unrelated consecutive patients with a history of thrombosis.

2001

AdultMalemedicine.medical_specialtyBiologyGastroenterologyGenetic determinismPolymorphism (computer science)Risk FactorsInternal medicineFactor V LeidenmedicineHumansThrombophiliaGeneMethylenetetrahydrofolate Reductase (NADPH2)GeneticsVenous ThrombosisOxidoreductases Acting on CH-NH Group DonorsPolymorphism GeneticVascular diseaseFactor VThrombosisHematologyMiddle Agedmedicine.diseaseThrombosisCase-Control StudiesFemaleProthrombinThrombosis research
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Lack of association between hemorheological alterations and upper-extremity deep vein thrombosis.

2009

Introduction: There is an association between rheological alterations and lower extremity deep vein thrombosis, although no research has been carried out regarding the possible influence of rheological alterations in the development of venous thrombosis in the upper limbs. Materials and methods: We have determined in 54 patients (23 male, 31 female; aged 35 ± 11 years) with primary upper extremity deep vein thrombosis (UEDVT), and in a well matched control group of 87 subjects (41 male, 46 female; aged 36 ± 12 years) the rheological profile (blood viscosity, plasma viscosity, fibrinogen, erythrocyte aggregation, erythrocyte de- formability) along with plasma lipids (total cholesterol and tr…

AdultMalemedicine.medical_specialtyPhysiologyDeep veinBlood viscosityFibrinogenGastroenterologyProtein SBody Mass IndexUpper ExtremityYoung AdultRisk FactorsPhysiology (medical)Internal medicinemedicineFactor V LeidenHumansVenous Thrombosisbiologybusiness.industryHematologyMiddle Agedmedicine.diseaseThrombosisLipidsSurgeryVenous thrombosismedicine.anatomical_structureHemorheologybiology.proteinHemorheologyFemaleCardiology and Cardiovascular Medicinebusinessmedicine.drugClinical hemorheology and microcirculation
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Thrombotic events in systemic lupus erythematosus. Its association with acquired and inherited thrombophilic defects.

2008

Systemic lupus erythematosus (SLE) is characterised by increased venous and arterial thrombotic risk. Although antiphospholipid antibodies (APAs) have been shown to be related with thrombotic tendency in these patients, in more than 40% of them, thrombosis occurs without the presence of such antibodies. We analysed the association of venous and arterial thrombotic events with acquired (anticardiolipin antibodies (ACAs) and lupus anticoagulant (LA)) and inherited (antithrombin (AT), protein C (PC), protein S (PS) deficiencies, factor V Leiden and the prothrombin G20210A mutation), thrombophilic risk factors in 86 SLE patients and 89 healthy controls. Patients showed a higher significant perc…

AdultMalemedicine.medical_specialtyPhysiologyGastroenterologyProtein SRisk FactorsPhysiology (medical)Internal medicinemedicineFactor V LeidenHumansLupus Erythematosus SystemicRisk factorLupus anticoagulantbiologybusiness.industryAntithrombinThrombosisHematologyBlood ProteinsMiddle Agedmedicine.diseaseThrombosisVenous thrombosisAntibodies AnticardiolipinLupus Coagulation InhibitorImmunologyMutationbiology.proteinFemaleCardiology and Cardiovascular MedicinebusinessProtein Cmedicine.drugClinical hemorheology and microcirculation
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Usefulness of Thrombophilia Testing in Venous Thromboembolic Disease

2012

Information on thrombophilia risk factors for patients with upper extremity deep vein thrombosis (UEDVT) is limited. The genetic, acquired, and coagulation risk factors of an acute episode of lower EDVT (LEDVT) or UEDVT, either isolated or associated with pulmonary embolism (PE), were studied.A total of 4503 patients participated in a thrombophilia study. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated.Mean age of the participants was 55 ± 19 years. The risk of LEDVT or UEDVT, isolated or associated with PE, was calculated according to thrombophilia factors. We found association between LEDVT and factor V Leiden ([FVL]; OR: 1.8; 95% CI 1.4-2.4) and resistance to activated…

AdultMalemedicine.medical_specialtyThrombophiliaRisk FactorsInternal medicinemedicineFactor V LeidenHumansThrombophiliaUpper Extremity Deep Vein ThrombosisRegistriesActivated Protein C ResistanceAgedVenous Thrombosisbusiness.industryAge FactorsFactor VVenous ThromboembolismHematologyGeneral MedicineOdds ratioMiddle Agedmedicine.diseaseConfidence intervalSurgeryPulmonary embolismProthrombin G20210AFemaleProthrombinbusinessProtein CFollow-Up Studiesmedicine.drugClinical and Applied Thrombosis/Hemostasis
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[Inferior vena cava malformations and deep venous thrombosis].

2006

We carried out a prospective study of 116 patients under 50 years of age who had deep venous thrombosis of the lower extremities to determine whether the presence of congenital anomaly of the inferior vena cava (IVC) was a risk factor for the disease. All patients were investigated by Doppler echography. Some 37 patients who had iliac vein occlusion also underwent phlebography. In 10 patients in whom the IVC was difficult to image, magnetic resonance angiography or computerized axial tomography was carried out. In all patients, studies of antithrombin, protein C and protein S deficiency, factor V Leiden, prothrombin G20210A, antiphospholipid antibodies, and acquired risk factors were also p…

AdultMalemedicine.medical_specialtyTime FactorsPopliteal VeinFemoral veinVena Cava InferiorIliac VeinInferior vena cavaRecurrenceRisk FactorsmedicineFactor V LeidenConfidence IntervalsHumansProtein S deficiencyProspective StudiesVenous ThrombosisLegbusiness.industryAnticoagulantsUltrasonography DopplerGeneral MedicinePhlebographyFemoral VeinMiddle Agedmedicine.diseaseThrombosisVein occlusionSurgeryVenous thrombosisTreatment Outcomemedicine.veincardiovascular systemProthrombin G20210AFemaleRadiologybusinessTomography X-Ray ComputedMagnetic Resonance AngiographyFollow-Up StudiesRevista espanola de cardiologia
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