Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149871 (deep vein thrombosis)
 12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Both pregnancy and oral contraceptive (OC) use are associated with a predominance of thrombosis in the iliofemoral vein, with a left-sided dominance. It is unknown, however, if third-generation OCs and factor V Leiden mutation increase this left-sided dominance. This question was investigated by reference to data on all discharges of women 18-49 years of age with the diagnosis of deep venous thrombosis from the 10 hospitals in Denmark's North Jutland and Viborg counties in 1985-93. 54 of the 55 such cases identified included information on the location of the thrombus. 18 women had factor V Leiden mutation and 1 had an antithrombin deficiency; 2 women with factor V Leiden mutation also had a protein S deficiency. 39 women (71%) had deep vein thrombosis in the left lower limb; thrombosis was located in the left iliofemoral vein in 31 of these cases. Logistic regression analysis revealed an increased risk of deep vein thrombosis in the left femoral vein among third-generation OC users compared with nonusers and users of other types of OCs. Left-side dominance was not associated with Factor V Leiden mutation. Larger studies are required to confirm these results.
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PMID:Oral contraception and factor V Leiden mutation in relation to localization of deep vein thrombosis. 969 18

Despite thromboprophylaxis, deep vein thrombosis is a common complication of major orthopedic surgery. Predisposing genetic risk factors are unknown. In this case-control study, we investigated the association of the insertion (I)/deletion (D) angiotensin converting enzyme (ACE) gene polymorphism, Factor V Leiden (R506Q) mutation, and 5,10 methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with post-operative venous thrombosis in 85 patients who underwent elective total hip arthroplasty. The odds of a thrombotic event following hip surgery among subjects with the DD genotype of the ACE gene was increased more than 10-fold compared to subjects with the II genotype (odds ratio 11.7 [95% confidence interval 2.3-84.5]); it was increased 5-fold in subjects with the ID genotype compared to the II genotype (odds ratio 5.0 [95% confidence interval 1.1-34.9]). Mean plasma ACE level in control subjects not on ACE inhibitors at the time of study (n=43) was lowest in persons homozygous for the I allele (18.9+/-7.95 U/l), intermediate in patients with the ID genotype (31.6+/-10.8 U/l) and highest in subjects homozygous for the D allele (44.0+/-7.14 U/l). Mean plasma ACE level among cases was higher (33.0 U/l, n=25) than among controls (29.4 U/l, n=43) but this difference was not statistically significant. Neither the Factor V Leiden mutation nor MTHFR gene polymorphism increased the risk of thrombosis following hip replacement. These results demonstrate that the I/D ACE gene polymorphism is a potent risk factor for thrombosis in subjects undergoing total hip arthroplasty.
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PMID:Deletion polymorphism in the angiotensin-converting enzyme gene as a thrombophilic risk factor after hip arthroplasty. 986 51

The HELLP syndrome (HS) belongs to the list of obstetric complications believed to be associated with coagulation disorders. It was formerly thought that chronic intravascular clotting (DIC) in the placental vessels was the main cause. A hypercoagulable state has been reported in cases of severe HS associated with microvascular abnormalities that may involve cerebral, placental, hepatic and renal vessels. A case of acute pancreatitis and DVT of inferior cava in a pregnant woman, presenting with HS at 29 weeks, who was found to have a R506Q mutation, is reported. Preeclampsia-associated pancreatitis and DVT have rarely been reported. It is hypothesized that APC-R and Factor V Leiden mutation may prove to be new and more important markers capable of predicting a more significant maternal morbidity associated with HS. Thrombosis prophylaxis may be considered during pregnancy in order to reduce hazardous multiorgan failure (MOF) in women who are heterozygous for Factor V Leiden mutation.
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PMID:Acute pancreatitis and deep vein thrombosis associated with HELLP syndrome. 1023 Feb 42

Deep venous thrombosis of the upper extremity (DVTUE) is a rare thrombotic disorder that may occur spontaneously but is most often related to predisposing factors, such as an indwelling central venous catheter, malignancy, or exercise. The role of coagulation disorders, i.e., a hypercoagulable state in the pathogenesis of DVTUE is not well known. We have evaluated both genetic and acquired thrombophilia parameters in consecutive patients with DVTUE. A hypercoagulable state was found in 32% of the patients. The most frequent coagulation abnormality was the presence of lupus anticoagulant or anticardiolipin antibodies (27%). Factor V Leiden mutation was detected in two patients, antithrombin deficiency in one, and none of the patients had the prothrombin G20210A gene variant or protein C or S deficiency. The prevalence of coagulation abnormalities was not significantly different in a subgroup of patients with spontaneous DVTUE as compared to those with an obvious predisposing factor, such as an indwelling central venous catheter. We conclude that antiphospholipid antibodies are frequently found in patients with DVTUE. Factor V Leiden mutation, prothrombin 20210A gene variant, protein C deficiency, and protein S deficiency do not seem to play a major pathogenetic role in DVTUE.
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PMID:Hypercoagulability states in upper-extremity deep venous thrombosis. 1127 52

Factor V Leiden mutation and prothrombin variant 20210 A are well-known risk factors for venous thrombosis (DVT). Recent papers have reported a lower prevalence of factor V Leiden in patients with pulmonary thromboembolism (PTE) than in patients with deep venous thrombosis. The aim of the present study was to compare the prevalence of factor V Leiden and the prothrombin 20210 G <-- A mutation in patients with DVT and in patients with PTE. We studied 128 consecutive patients (45 with DVT, 40 with PTE, and 43 with DVT and PTE) for factor V Leiden and prothrombin 20210 A. One hundred healthy persons matched by age and sex were used as controls. Factor V Leiden was present in five of the patients with PTE [12.5%; 95% confidence interval (CI), 1.5-23.5%; not significant], 15 of the patients with DVT (33.3%; 95% CI, 9.6-38.7%; P < 0.001), and 12 of the patients with DVT and PTE (27.9%; 95% CI, 4.8-33%; P = 0.001). Results for the prothrombin 20210 A mutation were as follows: four of 40 patients with PTE (10%; 95% CI, 0-13.3%; P = 0.46), nine of 45 (20%) of the patients with DVT (95% CI, 0.5-25.5%; P < 0.05) and eight of 43 with DVT and PTE were heterozygous (18.6%; 95% CI, 0-23.9%; P = 0.02). In conclusion, there is a significantly higher frequency of factor V Leiden among patients with DVT than in patients with PTE. However, there is no significant difference of factor V Leiden or 20210 A prothrombin mutation in patients with DVT than in patients with combined DVT/PTE, therefore patients with DVT, carriers of the mutations, do not appear to be at lower risk for pulmonary embolism.
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PMID:Prevalence of factor V Leiden and prothrombin 20210 A variant in Bulgarian patients with pulmonary thromboembolism and deep venous thrombosis. 1173 63

Venous thromboembolism (VTE) is thought to be a rare occurrence in Asian patients. The clinical features of VTE are elusive and the disease often unsuspected. Objective testing such as the duplex ultrasound scans and pulmonary imaging are necessary as clinical diagnosis alone is inaccurate. Fatality can occur in untreated patients not suspected of the disease as shown by our post-mortem studies. Indeed VTE is one of the leading causes of maternal mortality in Singapore. There is a rising trend in the incidence of VTE in Asia. Initial studies found an incidence of about 3 per 10,000 hospital admissions in Hong Kong and Malaysia in 1988 and 1990, respectively; rising to 8 and 15.8 per 10,000 hospital admissions in Singapore 1992 and 2000, respectively. The major risk factors for developing deep vein thrombosis (DVT) in our patients are immobilisation, surgery and malignancy. While Factor V Leiden mutation and mutation at position 20,210 in the prothrombin gene are found to be extremely rare in Chinese, the rest of the thrombophilia has not been formally studied. Studies in Singapore reported rates of 3% to 7% of DVT after general surgery, 9.7% after hip surgery and 14% after total knee replacement surgery. It is difficult to compare with studies from other centres because of differences in patient selection and diagnostic criteria. Studies in Singapore showed that the use of prophylactic low molecular weight heparin completely abolished the occurrence of DVT for patients undergoing total knee replacement and colorectal surgery without an increase in bleeding complications. In conclusion, VTE is not an uncommon problem here. Major acquired risk factors do not differ from the Caucasian populations. VTE is a preventable disease and a better understanding of its epidemiology, patient-risk factors and biological factors will allow better management of this condition.
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PMID:Clinical update on deep vein thrombosis in Singapore. 1195 69

Patients (n = 1600) from 12 European countries, scheduled for elective orthopaedic hip or knee surgery, were screened for Factor V Leiden and prothrombin gene G20210A mutations, found in 5.5% and 2.9% of the populations, respectively. All patients underwent prophylactic treatment with one of four doses of melagatran and ximelagatran or dalteparin, starting pre-operatively. Bilateral ascending venography was performed on study day 8-11. The patients were subsequently treated according to local routines and followed for 4-6 weeks postoperatively. The composite endpoint of screened deep vein thrombosis (DVT) and symptomatic pulmonary embolism (PE) during prophylaxis did not differ significantly between patients with or without these mutations. Symptomatic venous thromboembolism (VTE) during prophylaxis and follow-up (1.9%) was significantly over-represented among patients with the prothrombin gene G20210A mutation (p = 0.0002). A tendency towards increased risk of VTE was found with the Factor V Leiden mutation (p = 0.09). PE were few, but significantly over-represented in both the Factor V Leiden and prothrombin gene G20210A mutated patients (p = 0.03 and p = 0.05, respectively). However, since 90% of the patients with these genetic risk factors will not suffer a VTE event, a general pre-operative genotyping is, in our opinion, of questionable value.
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PMID:Factor V Leiden (G1691A) and prothrombin gene G20210A mutations as potential risk factors for venous thromboembolism after total hip or total knee replacement surgery. 1200 38

Normal maternal adaptation to pregnancy significantly increases the risk for thrombus formation. Inherited thrombophilias further increase risk for deep venous thrombosis and adverse outcome in pregnancy. Factor V Leiden mutation is the most common inherited thrombophilia, occurring in approximately 5% of the White and 1% of the Black populations. Nurses should be knowledgeable about screening for and diagnosis of factor V Leiden mutation, risk reduction counseling, recommended care of the affected patient, and implications of anticoagulant therapy during the perinatal period.
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PMID:Factor V Leiden mutation in pregnancy. 1518 Jan 98

Deep vein thrombosis - the formation of clots in one of the body's deep veins (usually in the lower extremities) - develops as a result of vascular damage to the vein wall, venous stasis, and hypercoagulability (Virchow's triad). Among the many problems it can cause, the condition can escalate the challenge of healing a chronic wound. If a patient presents with pain, swelling, warmth, muscle cramps, and/or redness, the clinician should consider deep vein thrombosis, even if the patient does not initially appear to be at risk. Because approximately 2 million Americans have deep vein thrombosis every year (including otherwise healthy adults, the elderly, and persons with and without a history of venous insufficiency), prompt attention to symptoms is warranted. Diagnosis takes into consideration risk factors such as hypercoagulability, estrogen contraception, and Factor V Leiden mutation and is confirmed via compression ultrasonography and duplex ultrasound. Management includes anticoagulation therapy and thrombolytic therapy; prevention focuses on avoiding long periods of sitting, wearing compression hose when necessary and, for persons at risk, prophylactic anticoagulant therapy. Prescribed bedrest as a result of deep vein thrombosis provided one clinician/patient who did not consider herself to be at risk the opportunity to explore the condition in depth.
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PMID:Up close and personal with deep vein thrombosis. 1656 27

Purpose. To describe a patient with two episodes of deep venous thrombosis and factor V Leiden mutation who presented with central retinal vein occlusion (CRVO) despite prophylactic use of warfarin sodium (Coumadin). Methods. A case report of a 44-year-old woman with a history of recurrent deep venous thrombosis and Factor V Leiden mutation was placed on lifelong prophylactic therapy with warfarin. The patient presented with CRVO in the left eye despite therapeutic levels of warfarin. Results. Extensive systemic evaluation disclosed high titers for antinuclear antibody (ANA). Conclusion. Systemic anticoagulation with warfarin may not preclude further thrombotic episodes. In younger patients presenting with retinal vein occlusion and pre-existing multiple thrombophilic risk factors, a multidisciplinary approach is recommended to explore other therapeutic options to avoid further thromboembolic complications.
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PMID:Central retinal vein occlusion with therapeutic level of anticoagulation. 1970 84


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