Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new clotting assay, Pefakit APC-R Factor V Leiden (Pentapharm Ltd., Switzerland), for the detection of an increased resistance of coagulation factor V against degradation by activated protein C, caused mainly by the factor V Leiden mutation, was evaluated in clinical studies at two University Centers in Europe and the US. The performance was compared with the performance of the routinely used predicate device COATEST APC Resistance V (Chromogenix IL, USA). Both tests were run in parallel on a STA-R analyzer (Diagnostica Stago, France). Samples from subjects undergoing routine laboratory thrombophilia screening were examined, 187 at the Institute of Medical and Chemical Laboratory Diagnostics (IMCLD), University of Vienna, Austria, and 236 at the Duke University Medical Center (DUMC), Durham/Raleigh NC, USA. All samples were analyzed for factor V Leiden mutation and prothrombin 20210 G/A mutation using standard PCR methods. The data show that the Pefakit APC-R Factor V Leiden assay discriminates very well between healthy controls and carriers of the factor V Leiden mutation, even in patients with lupus anticoagulant or with deficiency in Protein C or Protein S. Furthermore, this new test is able to discriminate well between heterozygous and homozygous carriers of the factor V Leiden mutation. In both studies the Pefakit assay showed 100% sensitivity and 100% specificity for detection of the factor V Leiden mutation, compared to 93.1% sensitivity and 93.0% specificity for the COATEST APC Resistance V in the IMCLD study and 93.9% sensitivity and 95.6% specificity in the DUMC study. The new test has PCR-like discrimination power which will help to decrease costs by reducing the need for PCR verification of borderline cases.
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PMID:Clinical evaluation of a new functional test for detection of activated protein C resistance (Pefakit APC-R Factor V Leiden) at two centers in Europe and the USA. 1693 14

More than 1% of the couples whishing children suffer from recurrent miscarriage, but investigations and treatment are not consensual. Most patients have several risk factors, and a minimum investigation of known factors has to be undertaken: karyotyping of the couple, hysteroscopy for searching uterine anatomic anomalies, evaluation for thrombophilias (anticardiolipin antibodies, lupus anticoagulant, protein C activity, Proteine S activity, factor V Leiden and factor II mutations, activated protein C resistance), antinuclear antibodies. Systemic diseases (like lupus) and endocrine abnormalities (like thyroid diseases and diabetes mellitus) have to be detected by clinical examination and questioning. No endocrine investigation is recommended, unless irregular menstruations or sterility. Research in recurrent pregnancy loss are conducted in new associated factors, such as skewed-X-chromosome inactivation, maternal HLA types, modifications in specific immune molecules and cells regulation. Therapeutic proposals are preimplantation genetic diagnosis in case of abnormal karyotiping, hysteroscopic surgery for septate uterus, aspirin plus heparin in antiphospholipid-positive patients, and aspirin plus corticosteroids in systemic lupus. Heparin seems to improve obstetrical prognosis for patients with congenital or acquired thrombophilias, but there are only few studies carried out on the subject. This new therapeutic approach should incite the patients with a negative medical appraisal to be referred to specialized consultations in order to include them in eventual clinical tests. Finally, empathic listening and psychological support are necessary in a pathology with multiple etiological factors.
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PMID:[Early recurrent spontaneous abortion: How to take care in 2006?]. 1698 88

We report a case of simultaneous acute cytomegalovirus infection and venous thrombosis in a renal transplant recipient. On posttransplant month 3, the patient started complaining of left leg pain and swelling. Tibiopopliteal and femoral deep venous thrombosis were confirmed by Doppler ultrasonography. A serological test for CMV ELISA was strongly positive for IgM antibodies. Acute CMV infection was diagnosed by serum quantitative DNA polymerase chain reaction. Genetic predisposing risk factors for thrombosis (eg, protein C and S deficiency, factor V Leiden and prothrombin G20210A mutations, and antithrombin III deficiency) were not present. Results of tests for anticardiolipin antibodies, lupus anticoagulant, and antinuclear antibodies were also negative. No other clinical or biologic risk factors for thrombosis were detected in the patient. The patient responded well to intravenous gancyclovir and low-molecular weight heparin therapy. He was discharged in good condition. Our observation suggests that acute CMV infection may be the cause of a thrombotic event in renal transplant recipients.
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PMID:Acute cytomegalovirus infection complicated by venous thrombosis in a renal transplant recipient. 1711 13

Systemic lupus erythematosus (SLE) is a chronic inflammatory disorder with a high prevalence of cardiovascular disease due to accelerated atherosclerosis, as well as an increased risk of venous thromboembolism. Many of these clinical features have been attributed to the high prevalence of autoantibodies that are directed against phospholipid-bound antigens and that induce prothrombotic effects and disturb endothelial cell function. We conducted a case-control study in a cohort of female patients with SLE and in age-matched and sex-matched normal individuals. Patients had significantly higher levels of plasma inflammatory markers, but their overall coagulation status assessed by prothrombin fragment 1 + 2 and D-dimer plasma levels was not different from controls. Resistance against activated protein C (APC), assessed by a thrombin generation-based as well as an activated partial thromboplastin time-based method, however, was increased in patients. This defect was neither due to factor V Leiden carriership or to the use of oral contraceptives. This acquired form of APC resistance was due to proinflammatory changes associated with lower plasma levels of free protein S. In conclusion, acquired APC resistance may be an important determinant of the risk of thrombosis in patients with SLE, probably due to an active cross-talk between inflammation and coagulation systems.
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PMID:The inflammation and coagulation cross-talk in patients with systemic lupus erythematosus. 1717 22

This review focuses on the several coagulation disorders (the so called hypercoagulable states) that are associated with cerebral venous thrombosis. Hypercoagulable states likely explain the high percentage of cases of cryptogenic cerebral infarction in young people. The most common of the hereditary defects appear to be deficiency of antithrombin III, protein C or protein S, activated protein C resistance and prothrombin 20211A mutation. In a large majority of cases activated protein C resistance is due to the presence of factor V Leiden. Antiphospholipid antibodies (lupus anticoagulant and anticardiolipin antibodies) represent an acquired disorder of coagulation. Rare defects include heparin cofactor II (HC II), plasminogen or tissue plasminogen activator deficiency (TPA), elevated plasminogen activator inhibitor-1 (PAI-1) and dysfibrinogenemia. Hyperhomocystinemia is responsible for both arterial and venous thrombosis. A work-up to identify one of the recognizable hypercoagulable states is indicated, especially in younger patients with stroke. Laboratory evaluation for hypercoagulable states may also often be indicated in those patients who do not have other obvious risk factors for their stroke. If from clinical history, family history and/or laboratory studies, a patient is felt to have a hypercoagulable state, the decision for long term chronic anticoagulation needs to be individualized. If a hereditary hypercoagulable state is found, it also may be appropriate to recommend screening of other family members.
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PMID:Haematologic disorders and cerebral venous thrombosis. 1718 75

Thrombophilia these days is a subject of many medical research including obstetric and gynecology where causing feto-maternal complications. In women predispose to venous thromboembolism in high risk situation like pregnancy, puerperium, operation, prolonged bed rest or hormonal treatment. For fetal complication account miscarriages, intrauterine deaths, IUGR, and for maternal account premature placental separation and severe preeclampsia. Diagnostic panel include inherited factors like factor V Leiden and prothrombin mutation, activated protein C resistance and acquired like anticardiolipin antibodies, antibodies against beta2-glicoprotein 1 and lupus anticoagulant. The aim of this paper is estimation ofthrombophilia as a causative factor of pregnancy complications and attempt to establish screening criteria for thrombophilia. Material involved 36 women with pregnancy complications divided into three groups correlating with trimester when pregnancy loss occured. All patients had genetic, hormonal and anatomic tests done on purpose to exclude other possible causes of miscarriages. All women had done both types of tests for inherited and acquired thrombophilia. For factor V and II gene polimorphism we used PCR and RLFP method. Acquired protein C resistance and lupus anticoagulant was tested using chronometric method with the use of time measurement of optical density accompanying coagulation. Anticardiolipin antibodies and antibodies against beta2-glicoprotien 1 were measured in ELISA tests. Our current results present the frequency of at least one thrombophilic factor in 16.6% patients. The highest frequency rate was observed among women with pregnancy loss between 7th and 12th gestational week--19.04%. In this group we also noticed the highest number of miscarriages. In remaining two groups, with pregnancy loss between 12th and 22nd and after 22nd gestational week, one case of thrombophilia occurred in each group.
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PMID:[Frequency of antiphospholipid antibodies and factor V (G1691A), prothrombin (G20210A) gene polimorphism among women with pregnancy complications]. 1719 54

Regular multilaboratory surveys of laboratories by the Royal College of Pathologists of Australasia Quality Assurance Program (QAP) have been conducted to assess proficiency in tests of hemostasis for the last 40 years. This article focuses primarily on specialized assays of hemostasis, for which surveys have been conducted for some 10 years. For von Willebrand disease (vWD) evaluations, a total of 47 plasma samples have been dispatched to survey participants, including representative samples from normal individuals plus all of the major vWD subtypes (i.e., types 1, 2A, 2B, 2M, 2N, and 3). These surveys have focused partly on the issue of diagnostic interpretive error rates associated with different assays and test panels. In this context, considerable improvement is seen when laboratories incorporate the vWF:collagen-binding assay into the test panel. Thrombophilia-associated tests assessed by the program and discussed in this review include activated protein c resistance, lupus anticoagulant, and deficiencies of protein C, protein S, and antithrombin. Other tests briefly reviewed here include factor assays and inhibitors, D-dimer, and heparin/anti-Xa assays. Anticardiolipin antibody and anti-beta(2)-glycoprotein I antibody (aB(2)GPI) testing, assessed by the Immunology QAP, is also reviewed briefly, as are genetic tests associated with thrombophilic markers such as factor V Leiden and the prothrombin gene.
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PMID:Emerging technologies and quality assurance in hemostasis: a review of findings from the Royal College of Pathologists of Australasia Quality Assurance Program. 1742 57

This article evaluates the prevalence of cardiovascular and thrombophilic risk factors in patients with retinal artery occlusion. Forty-one patients with a first episode of a retinal artery occlusion underwent complete ophthalmic examination, routine blood testing and specific laboratory tests for thrombophilia, such as fasting and postmethionine homocysteine, lipoprotein(a), plasminogen activator inhibitor-1, factor VIII, factor V Leiden, factor II G20210A polymorphism, lupus anticoagulant and anticardiolipin antibodies. The control population consisted of 100 healthy individuals comparable as regards age and sex. At univariate analysis, hypertension, smoking, dyslipidaemia (both high cholesterol and triglyceride levels), antiphospholipid antibodies, hyperhomocysteinaemia, elevated factor VIII and lipoprotein(a) levels were significantly associated with retinal artery occlusion; at multivariate analysis, adjusted for age, sex, traditional and thrombophilic risk factors, smoking, hypercholesterolaemia, elevated homocysteine and lipoprotein(a) levels confirmed their independent role as risk factors for retinal artery occlusion. In conclusion, the results of the present pilot study demonstrate that the prevalence of hypercholesterolaemia and smoking and the 'thrombophilic burden' are increased in patients with retinal artery occlusion. Our findings may have implications for the management of these patients, suggesting the need for an intensive and tailored secondary prevention and new therapeutic approaches.
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PMID:Cardiovascular and thrombophilic risk factors in patients with retinal artery occlusion. 1747 72

Risk factors of children with arterial ischemic stroke were retrospectively evaluated. The children were grouped according to values on developing diagnostic tools: 13 in the old era (1987-1994) and 18 in the new era (1995-2004). The old era battery included 5 tests: protein C, protein S, antithrombin, lupus anticoagulants, and anticardiolipin antibodies. The new era battery added 5 more tests: homocystine level, factor VIII level, mutations for factor V Leiden and prothrombin G20210A, and lipoprotein (a) level. At least 1 risk factor was found in 5 of 13 children (38.5%) in the old era and in 8 of 18 (44.4%) in the new era. The extended battery for prothrombotic disorders revealed 7 risk factors in 4 children (22.2%) in the new era, whereas the limited battery identified a single risk factor in 1 child (7.7%) in the old era. For the correct etiologic identification, prothrombotic risk factors should be extensively evaluated in patients with arterial ischemic stroke.
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PMID:Arterial ischemic stroke in childhood: risk factors and outcome in old versus new era. 1794 Feb 47

We prospectively assessed associations of thrombophilia- hypofibrinolysis with central retinal vein occlusion (CRVO) (40 patients) and central retinal artery occlusion (CRAO) (9 patients). We used polymerase chain reaction measures for thrombophilia (factor V Leiden, prothrombin, C677T MTHFR, platelet glycoprotein PlA1/A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G). Serologic thrombophilia measures included protein C, protein S (total and free) and antithrombin III, homocysteine, lupus anticoagulant, anticardiolipin antibodies IgG-IgM, and factors VIII and XI. Serologic hypofibrinolysis measures included Lp(a) and plasminogen activator inhibitor activity. For comparison with 40 CRVO and 9 CRAO patients, 80 and 45 race-gender matched controls were studied. The factor V mutation was more common in CRVO (3/40, 8%) than controls (0/79, 0%), P = .036, as was high (>150%) factor VIII (12/40, 30%) versus (4/77, 5%), P = .0002. Low antithrombin III (<80%) was more common in CRVO (5/39, 13%) than in controls (2/73, 3%), P = .049. Homocysteine was high (> or =13.5 micromol/L) in 5/39 (13%) CRVO patients versus 2/78 controls (3%), P = .04. Three of 9 CRAO patients (33%) had low (<73%) protein C versus 2/37 controls (5%), P = .044. Two of 9 CRAO patients (22%) had high (> or =13.5 micromol/L) homocysteine versus 0/42 controls (0%), P =. 028. Four of 9 CRAO patients had the lupus anticoagulant (44%) versus 4/33 (12%) controls (P = .050). CRVO is associated with familial thrombophilia (factor V Leiden, factor VIII, low antithrombin III, homocysteinemia), and CRAO is associated with familial and acquired thrombophilia (low protein C, homocysteinemia, lupus anticoagulant), providing avenues for thromboprophylaxis, and triggering family screening.
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PMID:Ocular vascular thrombotic events: central retinal vein and central retinal artery occlusions. 1816 May 89


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