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Query: UMLS:C0149871 (deep vein thrombosis)
 12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Increased risk of arterial and venous thromboembolic disease is well documented in the homocystinuric patient. There is growing evidence that hyperhomocysteinemia is an independent risk factor for premature arteriosclerotic disease, including cerebral, peripheral, and coronary vascular diseases. So far no association has been established between hyperhomocysteinemia and venous thromboembolism. We studied 35 patients, young adults (age less than 56 years) with venographically and/or ultrasonographically verified deep venous thrombosis (DVT). Patients with coexisting diseases were excluded. Plasmahomocysteine levels before and after intake of methionine were measured 3 months or more after the time of diagnosis and compared with 39 control subjects. We found no significant difference in plasmahomocysteine levels between the young adults with deep venous thrombosis and control subjects. This indicates that hyperhomocysteinemia is not a frequent cause of DVT.
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PMID:Plasma homocysteine levels in patients with deep venous thrombosis. 767 Sep 44

Severe hyperhomocysteinemia in its most frequent form, is caused by a homozygous enzymatic deficiency of cystathionine beta-synthase (CBS). A major complication in CBS deficiency is deep venous thrombosis or pulmonary embolism. A recent report by Mandel et al (N Engl J Med 334:763, 1996) postulated factor V Leiden (FVL) to be an absolute prerequisite for the development of thromboembolism in patients with severe hyperhomocysteinemia. We studied 24 patients with homocystinuria caused by homozygous CBS deficiency from 18 unrelated kindreds for FVL and for the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and investigated their possible interaction in the risk of venous thrombosis. Thrombotic complications were diagnosed in six patients, of whom only one was a carrier of FVL. On the contrary, thermolabile MTHFR caused by the 677C-->T mutation, was frequently observed among homocystinuria patients, especially among those with thromboembolic complications: three of six homocystinuria patients who had suffered from a thromboembolic event had thermolabile MTHFR. These data indicate that FVL is not an absolute prerequisite and probably not even a major determinant of venous thrombosis in homocystinuria, but, interestingly, thermolabile MTHFR may constitute a significant risk factor for thromboembolic complications in this inborn error of methionine metabolism.
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PMID:Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis. 949 Jun 85

Activated protein C resistance is the most frequent cause of thrombophilia. It is found in 20% of patients with an episode of deep vein thrombosis (DVT) and its prevalence in caucasian population is between 3-7%. Activated protein C resistance is secondary to an Arg 506 to Gln mutation of factor V (factor V Leiden). The relative risk of DVT for heterozygotes is 5 to 10, and for homozygotes 50 to 100. There is a 2- to 4-fold increase risk of recurrences in patients bearing the factor V Leiden mutation after a first episode of DVT. Recently a new mutation in the prothrombin gene (20210 G/A) was found to increase the relative risk of DVT by 2 to 4. Finally we also reviewed the association between DVT and hyperhomocysteinemia that is associated with a 2-fold increase risk of DVT.
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PMID:[New causes of inherited thrombophilia]. 951 43

A polymorphism, C-->T677, in the methylenetetrahydrofolate reductase (MTHFR) gene has been identified as a cause of mild hyperhomocysteinemia, a risk factor for venous thrombosis. We have investigated the frequency of the TT genotype in 277 consecutive patients with confirmed deep venous thrombosis and 431 healthy subjects. The TT MTHFR genotype was more frequent in patients than in controls (25.6% vs. 18.1%; p = 0.016). The risk of thrombosis among carriers of this genotype was significantly increased [odds ratio: 1.6 (95% CI: 1.1-2.3)]. The estimated risk associated with the TT genotype was 2.0 (95% CI: 1.3-3.1) in subjects with (n = 122), and 1.3 (95% CI: 0.8-2.0) in those without (n = 155) predisposing (hereditary, acquired or circumstantial) risk factors for venous thrombosis. Factor V Leiden and prothrombin G-->A20210 are known risk factors for venous thrombosis. After stratification for FV Leiden and prothrombin A20210 mutations, a significant association was also observed. After adjustment for sex, FV Leiden and prothrombin A20210 mutation, the estimated risk of venous thrombosis among carriers of the TT MTHFR genotype was 1.7 (95% CI: 1.2-2.6). The TT MTHFR genotype is independently associated with venous thrombosis, mainly among individuals with a high risk profile.
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PMID:The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutation. 960 18

Recurrent venous thrombotic and thromboembolic disease, once thought to be an uncommon entity, is increasingly being recognized. Etiologies of recurrent deep venous thrombosis usually include elements of Virchow's triad. Venous stasis (e.g., immobilization, congestive heart failure, acute myocardial infarction, obesity), hypercoagulability (e.g., malignancy, inflammatory bowel disease, hyperhomocysteinemia, protein C resistance, antithrombin III, protein C or S deficiency) and endothelial trauma (e.g., surgical trauma, venous trauma, in-dwelling venous instrumentation) are risk factors. Diagnosis is dependent on objective testing, including venography duplex Doppler (color) ultrasonography and impedance plethysmography. Treatment is usually started with heparin or low-molecular-weight heparin and advanced to warfarin (adjusted to international normalized ratio). Prophylaxis may continue using low-molecular-weight heparin, warfarin, venacaval interruption (Greenfield filter), or concomitant use of the platelet-active agent indobufen and graduated compression stockings.
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PMID:Clinical therapeutic conference: recurrent venous thrombotic and thromboembolic disease. 1009 38

A 45-year-old man was admitted complaining of chest pain and pain and edema in the left lower extremity. Ultrasonography and venography results yielded a diagnosis of left femoral vein thrombosis, and pulmonary embolism was diagnosed later. Intravenous heparin therapy (10,000 IU/day) improved the patient's clinical signs. During this therapy, however, pain and edema of the right lower extremity developed, leading to a diagnosis of right femoral vein thrombosis. The patient was admitted to our hospital. At that time, coagulation studies showed an FDP level of 44.7 micrograms/ml and an FDP-DD level of 24.5 micrograms/ml. We surmised that the bilateral deep vein thrombosis had been caused by hyperhomocysteinemia (17.8 mumol/l). Genetic and other acquired risk factors for thrombophilia were ruled out. The patient's clinical signs again improved as a result of intravenous heparin therapy (15,000 IU/day), and FDP and FDP-DD levels returned to normal. We concluded that hyperhomocysteinemia is a risk factor for thrombosis and that it can generate thrombosis in other locations even during heparin therapy.
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PMID:[Hyperhomocysteinemia: development of deep vein thrombosis in another location during heparin anticoagulation therapy]. 1039 Aug 88

A case is presented of a 24 yr old military aircrew applicant who developed a right axillary subclavian deep venous thrombosis following physical exertion. Investigations revealed damage to the right axillary subclavian venous system and limitation to flow. Coagulation studies also showed an elevated plasma homocysteine level. Hyperhomocysteinemia has recently been recognized as a risk factor for venous thromboembolic disease. Damage caused by the thrombosis, the hyperhomocysteinemia and environmental factors encountered in flight, may predispose him to recurrent episodes of thrombosis. This complex case involves aspects of hematology and the nature of coagulation which are only just being elucidated and as yet are poorly understood, and highlights some serious aeromedical implications for pilots afflicted with these conditions.
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PMID:Hyperhomocysteinaemia and upper extremity deep venous thrombosis: a case report. 1041 8

Mild hyperhomocysteinaemia is an established risk factor for deep vein thrombosis (DVT); few data concerning its potential interaction with thrombophilic genotypes are available at the present time. We investigated 121 thrombosis-free individuals and 111 patients with at least one objectively confirmed episode of DVT. A thrombophilic condition (deficiency in antithrombin, protein C and S, factor V Leiden, prothrombin G20210A) was detected in 25.2% of the patients; mutant factor V or prothrombin genotypes were present in 6.6% of the controls. Hyperhomocysteinaemia was found in 14.4% of patients and 3. 3% of the controls, with a 3.7-fold increase in risk for DVT (95% CI 1.1-12.3). Adoption of different cut-off levels for definition of hyperhomocysteinaemia did not substantially change the magnitude of the risk. Carriership of both hyperhomocysteinaemia and factor V Leiden or prothrombin G20210A was detected in 2.7% of patients for each combination and in none of the controls. An approximate estimate of 30-fold increased risk in carriers of both hyperhomocysteinaemia and factor V Leiden and 50-fold increased risk in carriers of both hyperhomocysteinaemia and prothrombin G20210A was calculated, suggesting a synergistic interaction between hyperhomocysteinaemia and such thrombophilic genotypes. Yet statistical analysis is highly unstable due to the small number of individuals with combined defects. Further investigations on large series of patients are needed.
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PMID:Prevalence of mild hyperhomocysteinaemia and association with thrombophilic genotypes (factor V Leiden and prothrombin G20210A) in Italian patients with venous thromboembolic disease. 1046 Jun 23

Hyperhomocysteinemia is an established risk factor for deep vein thrombosis. Factor V Leiden has been reported to potentiate the thrombotic risk related with severe hyperhomocysteinemia, being more represented in thrombotic patients with homocystinuria as compared with patients without a history of thrombosis. The results concerning the interaction between moderate hyperhomocysteinemia and inherited thrombophilic factors such as Factor V Leiden or the prothrombin G20210A mutation are contradictory. The relative risk for venous thrombosis has been reported to be increased 10- to 50-fold in patients carrying both hyperhomocysteinemia and inherited thrombophilia in comparison with normal controls, suggesting a synergistic interaction, yet other studies failed to confirm such conclusion. The heterogeneity of these findings is in part due to the small number of individuals with double defects, leading to statistically unreliable results. Genotyping for mutations that are possible causes of moderate hyperhomocysteinemia, such as the thermolabile variant (C677T) of methylenetetrahydrofolate reductase (MTHFR), does not seem useful to identify individuals at higher risk for venous thromboembolism. In fact, in most of the studies the presence of the C677T MTHFR homozygous genotype does not increase the thrombotic risk associated with Factor V Leiden or the prothrombin mutation.
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PMID:Interaction between hyperhomocysteinemia and inherited thrombophilic factors in venous thromboembolism. 1101 48

We report a case of a young lady with an extensive deep vein thrombosis (DVT) diagnosed by CT scan and duplex ultrasound examination. Contributory factors were relative immobilisation, oral contraception and hyperhomocysteinemia after methionine loading. No other thrombophilic factors could be found. The three main causes of hyperhomocysteinemia are genetic defects, nutritional deficiencies and insufficient elimination. In our case a genetic defect for one of the key enzymes of homocysteine metabolism, may be the underlying cause. Besides stopping oral contraceptive drugs, anticoagulation and supplementation with pyridoxine and folate was started. Family screening was carried out and revealed other members with hyperhomocysteinemia. Whether therapy with pyridoxine and folate can substantially reduce the recurrence of venous thromboembolic disease remains to be established.
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PMID:Extensive deep vein thrombosis in a young woman. Case report. 1130 39


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