Biomedical subjects

Sabine Eichinger

Publications and source records attributed to Sabine Eichinger.

22 records · Page 2Linked to original sources

PubMedDate not supplied

Homozygosity in the single nucleotide polymorphism Ser128Arg in the E-selectin gene associated with recurrent venous thromboembolism.

BACKGROUND: The single nucleotide polymorphism (SNP) Ser128Arg in the E-selectin gene is overrepresented in certain patient populations with atherosclerosis or restenosis. As this SNP enhances tissue factor-triggered coagulation in humans during systemic inflammation, we hypothesized that it may also predispose for the development of recurrent venous thromboembolism (VTE). METHODS: A total of 585 patients were prospectively observed after first VTE for recurrent, objectively documented, symptomatic VTE. Patients with secondary VTE, homozygous factor V Leiden, natural inhibitor deficiencies, lupus anticoagulant, or long-term anticoagulation therapy were excluded. The S128R SNP was genotyped by mutagenically separated polymerase chain reaction. RESULTS: A total of 102 patients (17%) were heterozygous, and 11 were homozygous (2%) for the Ser128Arg mutation. Ninety patients (15%) had recurrent VTE during follow-up. Homozygosity for the Ser128Arg SNP increased the cumulative likelihood, particularly for early recurrent VTE (log rank test, P<.05) and was an independent predictor of recurrent VTE (hazard ratio [HR], 4.1; 95% confidence interval [CI], 1.5-11.4) in a multivariate Cox regression model. In contrast, heterozygosity for the polymorphism was associated with an unaltered HR (HR, 1.1; 95% CI, 0.6-1.9) for recurrent VTE. CONCLUSIONS: Homozygosity for the S128R E-selectin allele appears to increase the risk for recurrent VTE several fold. If these findings are confirmed, this may represent a novel risk factor for recurrent VTE. These results also expand our knowledge on the association of this SNP with thrombotic disorders.

Adult↗

PubMedDate not supplied

Deep vein thrombosis.

Deep vein thrombosis and its sequelae pulmonary embolism and post-thrombotic syndrome are some of the most common disorders. A thrombus either arises spontaneously or is caused by clinical conditions including surgery, trauma, or prolonged bed rest. In these instances, prophylaxis with low-dose anticoagulation is effective. Diagnosis of deep vein thrombosis relies on imaging techniques such as ultrasonography or venography. Only about 25% of symptomatic patients have a thrombus. Thus, clinical risk assessment and D-dimer measurement are used to rule out deep vein thrombosis. Thrombus progression and embolisation can be prevented by low-molecular-weight heparin followed by vitamin K antagonists. Use of these antagonists for 3-6 months is sufficient for many patients. Those with antithrombin deficiency, the lupus anticoagulant, homozygous or combined defects, or with previous deep vein thrombosis can benefit from indefinite anticoagulation. In cancer patients, low-molecular-weight heparin is more effective than and is at least as safe as vitamin K antagonists. Women seem to have a lower thrombosis risk than men, but pregnancy or use of oral contraceptives or hormone replacement therapy represent important risk factors.

Humans↗

PubMedDate not supplied

D-dimer testing in pregnancy.

During pregnancy, elevated markers of coagulation and fibrinolytic system activation, such as D-Dimer, indicate increased thrombin activity and increased fibrinolysis following fibrin formation. Testing for D-Dimer during pregnancy could therefore be useful for the diagnosis and prediction of a venous thromboembolic event (VTE) or pregnancy-related complications, and for monitoring antithrombotic treatment. This approach, however, is hampered by the fact that even an uncomplicated pregnancy in healthy women is accompanied by a substantial increase of D-Dimer. Thus, prior to clinical application reference values of D-Dimer according to gestational age need to be established. A substantial increase of D-Dimer during pregnancy is seen despite thromboprophylaxis with low molecular weight heparin (LMWH) indicating that further studies are needed to evaluate monitoring of LMWH during pregnancy and to investigate the optimal beginning and dose of LMWH thromboprophylaxis in pregnant women.

Female↗

PubMedDate not supplied

Homocysteine, vitamin B6 and the risk of recurrent venous thromboembolism.

Hyperhomocysteinemia (HHC) is an independent risk factor for cardiovascular disease, and even mildly to moderately elevated homocysteine levels have been associated with a heightened risk for a first and recurrent venous thromboembolism (VTE). Within the frame of a large prospective cohort study (Austrian Study on Recurrent Venous Thromboembolism), we assessed the impact of HHC on the risk of recurrence among 602 patients with a first unprovoked VTE. HHC was an independent risk factor of recurrence conferring a relative risk of 1.5 (95th% CI 1.0-2.4). HHC is caused either by genetic defects and/or by a deficiency of the vitamins (B12, B6 and folic acid) involved in the homocysteine metabolism. Low vitamin B6 levels are associated with an increased risk of a first venous thrombosis. We currently investigate whether or not low plasma levels of PLP are associated with a heightened risk for recurrent VTE.

Homocysteine↗