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

Evaluation of inherited thrombophilia in patients with venous thromboembolism includes testing for functional activity of antithrombin, protein C and protein S, and resistance to activated protein C (factor V Leiden), which can be assessed with plasma and DNA-based assays. The antiphospholipid syndrome is an acquired disorder related to the development of antibodies against phospholipid-protein complexes. Testing for the antiphospholipid syndrome includes measurement of antibodies to phospholipid-protein complexes by immunoassay or by detecting interference of anti-phospholipid antibodies in sensitive phospholipid-based assays. Other genetic risk factors have been listed, including a common polymorphism in prothrombin gene (3'-untranslated region) related to an increase of prothrombin level (> 115%) and a common polymorphism in the methylene tetrahydrofolate reductase (enzyme involved in homocysteine metabolism) gene related to a mild increase of homocysteine blood level. More recently high plasmatic levels of factor VIII (> 150%) or factor XI (> 120%), not related so far to a molecular defect, have been identified as risk factors for deep vein thrombosis. As a candidate gene, factor XIII gene polymorphisms are under investigation. Beside the acquired or genetic risk factors involved in thrombophilia, the gene-environment interactions are of importance in the onset of thrombosis.
 ...
PMID:[Laboratory testing for venous thromboembolism]. 1120 40

Mild hyperhomocysteinemia is an established risk factor for deep vein thrombosis. We report three patients with cerebral vein thrombosis (CVT) in which the only risk factor we were able to identify was increased blood homocysteine levels and the C677T polymorphism in both alleles of the methylene tetrahydrofolate reductase MTHFR gene. We suggest that hyperhomocysteinemia should also be a risk factor for CVT. Since this condition can be effectively and safely corrected by drugs, we suggest that homocysteine levels should be routinely determined in patients with idiopatic CVT, and even mildly increased levels corrected pharmacologically, in the hope of reducing the risks associated with this condition.
 ...
PMID:Cerebral vein thrombosis and mild hyperhomocysteinemia: three new cases. 1252 78

High plasma levels of total homocysteine (tHcy) are a risk factor for deep vein thrombosis. Because no information on the relationship between cerebral vein thrombosis and hyperhomocysteinemia is available, a case-control study of 121 patients with a first episode of cerebral vein thrombosis and 242 healthy control subjects was carried out. Fasting plasma levels of tHcy and their postmethionine load (PML) increments, together with other laboratory markers of thrombophilia, were measured in plasma or DNA. Hyperhomocysteinemia (high fasting tHcy and/or PML increments) was diagnosed in 33 patients (27%) and 20 control subjects (8%) (odds ratio, 4.2; 95% confidence interval [CI], 2.3-7.6). Low levels of serum folate and the 677TT methylene tetrahydrofolate reductase were associated with hyperhomocysteinemia, but in a multivariate model hyperhomocysteinemia only was associated with an increased risk of cerebral vein thrombosis. Oral contraceptive intake was associated with the disease with an odds ratio of 6.1 (95% CI, 3.3-11.0). The combined presence of the latter and hyperhomocysteinemia increased the risk of the disease with an odds ratio of 19.5 (95% CI, 5.7-67.3). In conclusion, hyperhomocysteinemia is associated with a 4-fold increased risk of cerebral vein thrombosis; whether or not its correction with vitamins reduces the risk of the disease remains to be demonstrated.
 ...
PMID:Hyperhomocysteinemia in cerebral vein thrombosis. 1271 2

Thrombosis in the venous or arterial system is quite common in systemic lupus erythematosus (SLE). We describe a young female patient whose first presentation was in the form of deep venous thrombosis of the right lower extremity. Her family history for thrombosis was positive and further studies revealed her to have SLE. Genetic studies showed that she had thrombophilic mutations of factor V, prothrombin and methylene tetrahydrofolate reductase genes. Her therapeutic response to anticoagulant therapy was satisfactory. The presence of inherited thrombophilic mutations must be searched for in SLE patients with thrombosis, especially in cases with a positive family history.
 ...
PMID:Thrombosis in systemic lupus erythematosus: effect of inherited thrombophilic mutations. 1457 95

Paediatric patients with systemic lupus erythematosus (SLE) and antiphospholipid antibodies (aPL), specifically lupus anticoagulants (LAC) are at high risk of developing thromboembolic events (TE). Our objectives were to determine the prevalence of TE in paediatric SLE patients with LAC and to determine if anticoagulation was effective to decrease morbidity, and prevent recurrent TE. We reviewed data on 149 paediatric SLE patients treated over 10 years. In all, 24 patients (16%) were LAC positive, and 21 TE occurred in 13 of these LAC positive patients (54% incidence of TE in LAC positive patients). The events were cerebral venous thrombosis (9), arterial stroke (3), deep venous thrombosis (4), pulmonary embolism (2), other venous event (1) and other arterial events (2). The median duration between SLE diagnosis and first TE was 15.2 months (range 0-62), and the median age at first TE was 15.1 years (range 11.4-18.4). Long-term anticoagulation was prescribed, and eight patients (62%) were transferred to adult care on lifelong oral warfarin; four (31%) remain under our care on lifelong warfarin, and one patient died of causes unrelated to her TE. No patient has been identified with deficiencies of protein C, protein S or antithrombin III. One patient is heterozygous for Factor V Leiden, and one is heterozygous for both the Prothrombin 20210A mutation and the MTHFR (methylene tetrahydrofolate reductase) mutation. Four patients had recurrent TE (31%), and three were not anticoagulated at the time of their second event. One patient had two recurrences on therapeutic anticoagulation. Thromboembolic events are prevalent in the LAC positive paediatric SLE population, and consideration for lifelong anticoagulation must occur after an initial TE.
 ...
PMID:Thromboembolism in paediatric lupus patients. 1459 22

Congenital absence of the inferior vena cava (AIVC) has been reported as a risk factor of deep vein thrombosis (DVT) in young people. DVT is caused by an interaction between congenital coagulation abnormalities and acquired risk factors. We observed an 18-year-old patient with AIVC who developed recurrent deep vein thrombosis at the left leg. Molecular studies showed an etherozigousity for FV Leiden gene (G1691A) and a homozigousity for methylenetetraidrofolate reductase gene (C677T) in absence of folate and vitamin B12 deficiency. After the second DVT episode, the patient has been treated with heparin and oral anticoagulant without discontinuation.
 ...
PMID:Congenital absence of the inferior vena cava and genetic coagulation abnormalities: a rare associated risk factor for recurrent idiopathic deep vein thrombosis. 1465 46

BACKGROUND: Congenital thrombotic risk factors, oncological diseases and its therapies have been related to an increased occurrence of upper extremities deep venous thrombosis (UEDVT). PATIENTS AND METHODS: We studied seven patients bearing lymphoma (one Hodgkin's and six non-Hodgkin's) who developed UEDVT, one at diagnosis and six during chemotherapy (two of these six cases had implantation of a central venous catheter and four received Growth Colony Stimulating Factors in addition to chemotherapy). Patients were screened for: factor V G1691A (Leiden), prothrombin G20210A, methylene tetrahydrofolate reductase (MTHFR) C677T mutations and antithrombin III, proteins C and S plasma activity. RESULTS: All patients were wild-type homozygotes for G20210A. One was heterozygote for factor V G1691A, the other 6 were wild-type homozygotes. Three of the 7 patients were homozygotes and 2 heterozygotes for the MTHFR mutation; the remaining 2 were wild-type homozygotes. Clotting inhibitor levels were normal in all patients. CONCLUSIONS: UEDVT in patients bearing haematological malignancies can occur irrespective of congenital thrombophilic alterations. However, in a subgroup of patients UEDVT could also depend on congenital thrombophilic alterations. A screening for inherited thrombophilia can identify high risk patients that could be specifically treated to prevent thrombotic complications.
 ...
PMID:Congenital and acquired thrombotic risk factors in lymphoma patients bearing upper extremities deep venous thrombosis: a preliminary report. 1503 64

Doctors prescribe patients more and more medications. This predominantly affects elderly people. Polypharmacy is more and more frequent and predominantly affects elderly people. It may lead to many harmful and virtually life threatening drug interactions. There is pressing need to investigate new remedies, which would be applied in many different and coexisting medical conditions. It is vital particularly in case of elderly people who usually suffer from many different diseases which have numerous common pathogenetic pathways. 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors, also known as statins, are a widely prescribed drug class for treatment of dyslipidemias and their complications such as coronary artery disease, stroke and peripheral arteriosclerosis. Now, there is accumulating evidence that statins also have beneficial pleiotropic effects that may make them useful in treatment of such diseases as dementia, osteoporosis, some forms of cancer, diabetes mellitus and its microangiopathic complications, hypertension and prevent deep vein thrombosis. Should we call statins "21st century aspirin?" This paper reviews recent data concerning the possibility of using statins in new indications; particularly in dementia (including Alzheimer's disease), osteoporosis, cardiovascular accidents and some forms of neoplasms.
 ...
PMID:[Statins--"21st century aspirin"?]. 1619 42

The impact of the G20210A prothrombin mutation, factor V Leiden and 677T mutation of methylene tetrahydrofalate reductase (MTHFR) in recurrent deep venous thrombosis (DVT) is not so clear. We have prospectively monitored 259 patients following a first episode of DVT in order to determine which factors influence the development of a recurrent event. Several clinical and biological factors together with the genetic polymorphisms of factor V Leiden, G20210A prothrombin and 677T MTHFR were assessed. During a median follow-up of 786 patient-years, 27 patients (14%) developed one objective episode of recurrent venous thrombosis. The carriers of a double defect, homozygous or double heterozygous for factor V Leiden and G20210A, had an increased risk after a first episode of DVT, while patients who were isolated heterozygous for factor V Leiden or G20210 had a risk of recurrent DVT similar to patients who had neither mutation (annual incidence of 12.1, 3.1, 2.9 and 2.8%). The 677T MTHFR mutation alone or combined with hyperhomocysteinemia was not associated with an increased risk of recurrent events. The development of proximal DVT (P=0.01) and the presence of a double defect (P=0.01) were the only two risk factors independently associated with a high recurrence ratio in the multivariate analysis. Thus, the annual incidence of DVT recurrence in patients without any of these two risk factors was only 0.6% (95% confidence interval, 0.2-0.9). We have identified a group of patients with DVT but at very low risk of re-thrombosis in whom an extended secondary thromboprophylaxis should be carefully considered.
 ...
PMID:Risk of recurrent venous thrombosis in patients with G20210A mutation in the prothrombin gene or factor V Leiden mutation. 1660 75

To investigate the role of methylene tetrahydrofolate reductase (MTHFR) (677 C-->T and 1298 A-->C), factor V (1691 G-->A), factor II (20210 G-->A) genetic polymorphisms and hyperhomocysteinemia in the aetiology of deep vein thrombosis (DVT) in 163 cases and 163 controls. Polymerase chain reaction-restriction fragment length polymorphism was used for genotyping, reverse-phase high-performance liquid chromatography for plasma homocysteine, and Student's t-test and Fisher exact tests were used for statistical analysis. Elevated mean plasma homocysteine levels were observed in DVT cases irrespective of gender differences. Homocysteine elevation above the 95th percentile of the control group associated with 9.4-fold and 7.6-fold increased risk for DVT in men and women, respectively. Genotyping showed the MTHFR 677CT/1298AC genotype (i.e. compound heterozygosity) is associated with 3.5-fold risk for thrombosis. The factor V Leiden mutation frequency was higher in DVT cases, but not statistically significant; however, genetic predisposition to this mutation was associated with early age of DVT onset. Factor II mutation was absent in cases and controls. Co-segregation of two or more risk factors was associated with 11.7-fold increased risk for thrombosis. This study projects that hyperhomocysteinemia and compound heterozygous state for MTHFR are independent risk factors for DVT among South Indians.
 ...
PMID:Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians. 1728 26


1 2 3 Next >>