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)

Recurrent thrombosis, abortion and thrombocytopenia are the most frequent manifestation of antiphospholipid syndrome, which usually presents antibodies against some anionic phospholipids. A few years ago, this syndrome was considered as a manifestation of systemic lupus erythematosus; nowadays it is classified as an isolated systemic lupus erythematosus; nowadays it is classified as an isolated autoimmune disease. Hypotheses have been proposed to explain the origin of antiphospholipid antibodies, including infectious and autoimmune diseases with high titles of anticardiolipin antibodies. Genetic factors have also been involved. Laboratory tests of choice for the detection of anticardiolipin antibodies are RIA and ELISA tests; there are some structural differences among them depending on the underlying disease. Hypercoagulability and recurrent thrombosis are the main features of this entity; ischemic heart disease is in this context of outmost importance. Despite the lack of any clinically demonstrated association between antiphospholipid syndrome and ischemic heart disease, there are many "in vitro" studies that support this possibility.
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PMID:[Antiphospholipid syndrome and cardiovascular disease]. 210 94

This study prospectively evaluates hypercoagulable states in patients under 51 years of age undergoing lower extremity revascularization for ischemia and assesses early outcome after operation. Twenty patients whose ages range from 23 to 50 years (mean 40.8 years) were identified prospectively who underwent lower extremity revascularization and evaluation of hypercoagulability. Fifteen patients were male (75%), 10 were black (50%), six had hypertension (30%), and four were diabetic (20%). All but two were cigarette smokers (90%). Seven aortoiliac procedures and 13 infrainguinal procedures were performed. Six patients had one or more abnormalities of regulatory proteins (protein S deficiency, four; protein C deficiency, three; presence of lupus-like anticoagulant, three; plasminogen deficiency, two). Eight of 17 patients in whom platelet aggregation profiles were obtained showed increased reactivity (47%). Only 4 of 17 patients (24%) were normal when tested for all parameters. Arterial or graft thrombosis developed in four of the 20 patients within 30 days after operation. Hypercoagulability was found in all four patients whose revascularizations failed. A high incidence of hypercoagulable states was found in patients under 51 years of age with lower limb ischemia requiring revascularization. Hypercoagulability may have contributed to early postoperative thrombosis of the vascular procedure.
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PMID:Hypercoagulable states and lower limb ischemia in young adults. 252 8

Hypercoagulability may contribute to stroke in young adults. Lupus anticoagulants (LA) were identified in six patients (4%) of 145 young adults with cerebral infarction. The clinical features of the 6 patients in this survey plus an additional patient from another institution with LA-associated stroke are presented. Four had systemic lupus erythematosus and 3 had idiopathic LA; all had mild thrombocytopenia. In 2 patients, no other conditions associated with stroke were discovered after thorough evaluation. Recurrent arterial thrombosis occurred in 4 of 7 patients during an average of two years of follow-up. Evidence suggests that inhibition of prostacyclin formation may occur with LA, promoting a prothrombotic state.
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PMID:Cerebral infarction associated with lupus anticoagulants--preliminary report. 642 Sep 43

The authors define pro-thrombotic states as conditions associated with a high frequency of thrombosis; this association is based on pathogenetic or simply clinical and epidemiological relationships. Thrombophilic states have well-defined, specific causes: antithrombin III, protein C and S and similar deficiencies for inherited thrombophilias, and lupus anticoagulant, antiphospholipid antibodies for the acquired forms. Another identifiable group is made up of several conditions predisposing to thrombosis (CPT) characterized by less specific and multiple mechanisms (e.g. malignancy, inflammatory bowel disease, nephrotic syndrome, diabetes, obesity, etc.). These conditions may induce thrombosis by themselves or contribute to its clinical onset in patients with true thrombophilic states. This is especially the case for patients who are taking contraceptive drugs, are pregnant, have undergone surgery or trauma. The term hypercoagulability states is by no means equivalent to either thrombophilia or CPT. In fact, hypercoagulability may be defined as "activation of blood coagulation" in the presence of specific markers such as fibrinopeptide A and prothrombin fragment F1 + 2. Hypercoagulability is therefore a laboratory rather than a clinical condition and can be a transient feature appearing during certain phases of thrombophilia or CPT. Lastly, conditions involving the presence of hemostatic risk factors for atherothrombosis are simply terms used to describe a statistical-epidemiological relationship between certain hemostatic variables (fibrinogen, factor VII, PAI, etc.) involving the risk of cardiovascular morbidity and mortality but not necessarily indicating a hypercoagulability state.
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PMID:Pro-thrombotic states and their diagnosis. 800 87

Thrombophilia was recently suggested as a possible factor in recurrent pregnancy losses. We studied prospectively 125 patients (mean age 31.4 +/- 5.6 years) with one or more first or second trimester pregnancy losses for the prevalence of activated protein C resistance (APCR). Proteins C and S antigens, antithrombin III, anticardiolipin, and lupus anti-coagulant were also evaluated. Patients with uterine malformations, hormonal abnormalities, chromosomal translocations and infectious causes were excluded. A control group of 125 women with no past fetal loss were matched with the study group. Whenever the APC-sensitivity ratio (APC-SR) was </=2.2, polymerase chain reaction for factor V mutation (Leiden) was performed. Heterozygosity for the mutation was found in 18 patients (14.4%) compared with seven heterozygous among 125 control group (5. 6%; P < 0.05). Acquired APCR (APC-SR 1.8 and Leiden negative) was revealed in seven patients (5.6%) in the study group and in three of the controls (2.4%; not significant). The rate of preclinical pregnancy losses (17/48) and second trimester miscarriages (10/48) in mutation carriers was significantly higher than in patients with no APCR (25/214) and (14/214) respectively (P < 0.001 and P < 0.01 respectively). Live birth rate was not different between the two groups. Occurrence of APCR with any kind of pregnancy loss calculated per patient, in our study group, was approximately 1/7, 1/4 and 1/5 with one, two and three or more pregnancy losses respectively. These findings suggest that assessment of APCR should be considered in a more extended evaluation of such patients.
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PMID:A possible role for activated protein C resistance in patients with first and second trimester pregnancy failure. 1035 88

Thrombophilia is defined as an increased tendency to thrombosis and can be inherited or acquired. The thrombotic events in patients with inherited thrombophilia tend to occur at a young age, are often idiopathic, recurrent and may occur at unusual sites (e.g. mesenteric, portal and cerebral veins and in inferior vena cava). The most common of the hereditary defects appear to be antithrombin, protein C, protein S deficiency, which account for 10% of individuals presenting with venous thromboembolism, resistance to anticoagulant effect of activated protein C (APC-R), which is present in 17 to 64% of patients with thrombosis and prothrombin 20210 G-->A variant with 6% prevalence in patients with thrombosis. APC-R is due in 90% to the presence of factor V Leiden. Rarer defects include heparin cofactor II (HC II), plasminogen or tissue plasminogen activator deficiency (TPA), elevated plasminogen activator inhibitor-1 (PAI-1) and dysfibrinogenemia. The most common acquired defects are antiphospholipid antibodies (lupus anticoagulant and anticardiolipin antibodies). Hyperhemocystinemia is responsible as well for arterial as venous thrombosis. A substantial proportion of venous thrombotic events occurs spontaneously, i.e. without a precipitating event. Risk factors for thrombosis include surgery, trauma, immobility, congestive heart failure, pregnancy including puerperium and oral contraceptive usage. The thrombotic risk is increased in patients who are homozygous for factor V Leiden and markedly increased in patients with combined defects.
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PMID:[Thrombophilic states]. 1035 55

BACKGROUND: Thrombophilia may be associated with premature atherosclerosis, an increased susceptibility to primary arterial thrombosis and an increased failure rate for peripheral vascular or endovascular interventions. The aim of this study was to determine the prevalence of thrombophilia in patients with intermittent claudication (IC). METHODS: This was a prospective study of 116 consecutive new patients (70 men; median age 65 (range 43-84) years) referred to this regional vascular surgery unit with IC. Patients on warfarin, or who had previously undergone lower limb reconstruction and/or angioplasty, were excluded. RESULTS: Thrombophilia was demonstrated in 24 patients (21 per cent). The commonest abnormality (15 patients, 13 per cent) was a raised level of anticardiolipin antibody (ACLA) (11 immunoglobulin (Ig) M, four IgG). Other abnormalities comprised: lupus anticoagulant (one), protein C deficiency (two), protein S deficiency (two), activated protein C resistance (one) and factor V Leiden heterozygosity (three). All abnormalities were confirmed on repeat testing. No patient had a history of venous thrombosis. There was no statistically significant relationship between ACLA status and age, sex, ankle : brachial pressure index, previous myocardial infarction or stroke, previous carotid endarterectomy or coronary artery surgery, serum cholesterol, current use of antiplatelet agents or current smoking status. CONCLUSION: Almost one-quarter of new patients referred to this regional vascular unit with IC have thrombophilia; over half of those affected have a raised ACLA level compatible with the antiphospholipid syndrome. At present, the clinical significance and management implications of these abnormalities remain unknown.
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PMID:Vascular surgical society of great britain and ireland: prevalence and significance of thrombophilia in patients with intermittent claudication 1036 36

Thrombophilias, both inherited and acquired, have been reported to be associated with thromboembolic events and severe obstetric complications. This case report examines the case of a patient with two thrombophilias, activated protein C resistance secondary to Factor V Leiden mutation and lupus anticoagulant.
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PMID:Activated protein C resistance and lupus anticoagulant in pregnancy. 1058 65

Thrombophilia can result from either inherited or acquired conditions. We describe a teenager who developed extensive thrombosis requiring aggressive and prolonged anticoagulation. Laboratory evaluation revealed an acquired lupus anticoagulant, consistent with the antiphospholipid antibody syndrome (APS). DNA analysis revealed inherited thrombophilic mutations in the factor V and methylene tetrahydrofolate reductase genes. We believe that the combination of inherited and acquired hypercoagulable conditions affected her therapeutic response to anticoagulant therapy. Inherited thrombophilic DNA mutations may contribute to the hypercoagulability observed in patients with acquired thrombophilic conditions such as APS and systemic lupus erythematosus.
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PMID:Effects of inherited thrombophilic mutations in an adolescent with antiphospholipid syndrome and systemic lupus erythematosus. 1124 80

Thromboembolism in pregnancy and the puerperium and inherited or acquired thrombophilia are associated. Thrombophilia can be revealed by pregnancy. Thrombotic risk during pregnancy and the puerperium is higher in asymptomatic women with than without thrombophilia. Antithrombin deficiency, combined deficiencies and homozygous or double-heterozygotes factor V Leiden and factor II G 20210 A mutations are associated with a higher thrombotic risk than heterozygote mutations or protein S and C deficiencies, whereas hyperhomocysteinemia does not appear as a risk factor for maternal thromboembolic disease. Antiphospholipid syndrome with lupus anticoagulant is strongly associated with thrombotic risk in pregnancy and the puerperium. Further studies are required to assess the thrombotic risk in women with preeclampsia as well as early or late recurrent pregnancy loss.
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PMID:[Risk factors of thromboembolism associated with pregnancy and the puerperium. Role of inherited and acquired thrombophilia]. 1502 82


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