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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This article has stressed the common hereditary and acquired blood protein defects associated with thrombosis. The commonest hereditary defects appear to be antithrombin, protein C, and protein S deficiency, and the commonest acquired defects are anticardiolipin antibodies and the lupus anticoagulant. Therefore these are the defects that should first be looked for in an individual with unexplained thrombosis. If these commoner defects are not found, the rarer defects, including HC-II, plasminogen or t-PA deficiency, dysfibrinogenemia, or elevated PAI-1, should next be sought. The incidence of activated protein C cofactor deficiency is not yet clear but may also represent a common defect. Likewise, PAI-1 defects may, with time, be shown to be quite common. The importance of finding these defects has significant implications for therapy of the individual patient and for institution of family studies to identify, inform, and possibly treat others at risk. It is expected that as knowledge of hemostasis expands, more hereditary and acquired defects, such as elevated lipoprotein (a) or defects of extrinsic (tissue factor) pathway inhibitor may be associated with enhanced risks of thrombosis.
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PMID:Hypercoagulability and thrombosis. 817 Feb 63

Previous studies on the prevalence of biological abnormalities causing venous thrombosis and the clinical characteristics of thrombotic patients are conflicting. We conducted a prospective study on 2.132 consecutive evaluable patients with venous thromboembolism to determine the prevalence of biological causes. Antithrombin, protein C, protein S, plasminogen and heparin cofactor-II deficiencies, dysfibrinogenemia, lupus anticoagulant and antiphospholipid antibodies were investigated. The risk of any of these alterations in patients with familial, recurrent, spontaneous or juvenile venous thrombosis was assessed. The overall prevalence of protein deficiencies was 12.85% (274/2,132) and antiphospholipid antibodies were found in 4.08% (87/2,132). Ten patients (0.47%) had antithrombin deficiency, 68 (3.19%) protein C deficiency, 155 (7.27%) protein S deficiency, 16 (0.75%) plasminogen deficiency, 8 (0.38%) heparin cofactor-II deficiency and 1 had dysfibrinogenemia. Combined deficiencies were found in 16 cases (0.75%). A protein deficiency was found in 69 of 303 (22.8%) patients with a family history of thrombosis and in 205/1,829 (11.2%) without a history (crude odds ratio 2.34, 95% CI 1.72-3.17); in 119/665 (17.9%) patients with thrombosis before the age of 45 and 153/1,425 (10.7%) after the age of 45 (crude odds ratio 1.81, 95% CI 1.40-2.35); in 103/616 (16.7%) with spontaneous thrombosis and in 171/1,516 (11.3%) with secondary thrombosis (crude odds ratio 1.58, 95% CI 1.21-2.06); in 68/358 (19.0%) with recurrent thrombosis and in 206/1,774 (11.6%) with a single episode (crude odds ratio 1.78, 95% CI 1.32-2.41). Patients with combined clinical factors had a higher risk of carrying some deficiency. Biological causes of venous thrombosis can be identified in 16.93% of unselected patients. Family history of thrombosis, juvenile, spontaneous and recurrent thrombosis are the main clinical factors which enhance the risk of a deficiency. Laboratory evaluation of thrombotic patients is advisable, especially if some of these clinical factors are present.
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PMID:Laboratory evaluation and clinical characteristics of 2,132 consecutive unselected patients with venous thromboembolism--results of the Spanish Multicentric Study on Thrombophilia (EMET-Study). 906 91

Blood coagulation tests are useful to diagnose some thrombotic diseases. Particularly, these tests are valuable for the diagnosis of familiar thrombophilia, antiphospholipid antibody syndrome (APS) and disseminated intravascular coagulation (DIC). For the diagnosis of thrombophilia, determinations of both biological activity and antigen level of antithrombin III, protein C and protein S are important for initial screening. Since activated protein C (APC) resistance is extremely rare in Japanese, APC resistant test that based on APTT, is unnecessary to include as one of the screening tests. Detection of activity and antigen level of either plasminogen or fibrinogen is recommended to screen the plasminogen deficiency or dysfibrinogenemia. Determination of lupus anticoagulant is needed for the diagnosis of APS. At this time, the dilute phospholipid APTT (dAPTT) or the dilute Russell viper venom time (dRVVT) may be useful as a screening test for LA because procedure of these tests are basically simple to perform in Japanese laboratory. In the next step, cross mixing test of dAPTT (or APTT) should be perform to make a diagnose of LA more solid. Final confirm tests can be conveniently carried out with kit of either STACLOT or LA-CONFIRM. Platelet count and FDP (or FDP D dimer) assay are two essential tests for the diagnosis of DIC. Criteria of diagnosis for DIC recommended by Blood Coagulation Research Group of Japanese Ministry of Health and Welfare is not unnecessarily appropriate for practical use. TAT and PIC can be a good laboratory tests for early detection of hypercoagulable state in patients with DIC.
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PMID:[Clinical diagnosis of thrombosis and blood coagulation tests]. 956 63

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

Until recently, laboratory diagnosis of thrombophilia was based on investigation of the plasmatic anticoagulant pathways to detect antithrombin, protein C, and protein S deficiencies and on the search for dysfibrinogenemia and anti-phospholipid antibodies/lupus anticoagulants. More recently, laboratory investigations have been expanded to include activated protein C (APC) resistance, attributable or not to the presence of the factor V Leiden mutation; hyperprothrombinemia attributable to the presence of the prothrombin gene mutation G20210A; and hyperhomocysteinemia attributable to impairment of the relevant metabolic pathway because of enzymatic and/or vitamin deficiencies. All of the above are established congenital or acquired conditions associated with an increased risk of venous and, more rarely, arterial thrombosis. Testing is recommended for patients who have a history of venous thrombosis and should be extended to their first-degree family members. Because most of the tests are not reliable during anticoagulation, it is preferable to postpone laboratory testing until after discontinuation of treatment. Whenever possible, testing should be performed by means of functional assays. DNA analysis is required for the prothrombin gene mutation G20210A. Laboratory diagnosis for anti-phospholipid antibodies/lupus anticoagulant should be performed by a combination of tests, including phospholipid-dependent clotting assays and solid-phase anti-cardiolipin antibodies. Hyperhomocysteinemia can be diagnosed by HPLC methods or by fluorescence polarization immunoassays.
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PMID:Laboratory investigation of thrombophilia. 1151 92

Until recently the laboratory diagnosis of thrombophilia consisted on investigation of the plasmatic anticoagulant pathways and the search for dysfibrinogenemia and antiphospholipid antibodies/lupus anticoagulants. More recently, the laboratory investigation has been expanded by including activated protein C (APC) resistance, due or not to the presence of the factor V Leiden mutation; hyperprothrombinemia, due to the presence of the prothrombin mutation G20210A and hyperhomocysteinemia, due to impairment of the relevant metabolic pathway because of enzymatic and/or vitamin deficiency. Testing for thrombophilia may be useful for many reasons. First, the results of testing may provide valuable information to assess the risk of recurrence in the proband. Second, testing family members is useful for prophylactic and diagnostic purposes. Third, the identification of patients bearing combined defect helps to identify those at increased risk for thrombosis. Testing is recommended for patients with a past history of thrombosis and should be extended to their first-degree family members. Since most of the tests are not reliable during anticoagulation, it is preferable to postpone laboratory testing until after discontinuation of the treatment. Whenever possible testing should be performed by means of functional assays. DNA analysis is required for the prothrombin mutation G20210A. Laboratory diagnosis for antiphospholipid antibodies/lupus anticoagulant should be performed by a combination of tests including phospholipid-dependent clotting assays and solid phase anticardiolipin antibodies. Hyperhomocysteinemia may be assessed by high-pressure liquid chromatography methods, or by fluorescence polarization immunoassays.
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PMID:Laboratory diagnosis of thrombophilic states: where do we stand? 1367 50

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 can be broadly defined as an increased tendency toward hypercoagulability and venous thrombosis. There are several defined risk factors for thrombosis, and these are generally distinguished as either acquired or congenital, although sometimes this distinction is blurred because of interrelationships. Congenital risk factors include deficiencies or defects in natural anticoagulants, such as antithrombin, Protein C and Protein S, and genetic polymorphisms such as prothrombin G20210A and cleavage-resistant forms of factor V (in particular factor V Leiden), that lead to a condition commonly known as activated protein C resistance. Acquired risk factors include antiphospholipid antibodies, detected as lupus anticoagulants and/or anticardiolipin antibodies and/or anti-beta-2-glycoprotein-I antibodies. High levels of clotting factors, dysfibrinogenemia, hyperhomocysteinemia, prolonged immobilization, increasing age, surgery, trauma, cancer, obesity, poor nutrition, pregnancy, oral contraceptives, and hormone replacement therapy comprise just some of the other risk factors. Each of these elements constitutes a component of increased risk, which is compounded when concomitant. There is ongoing debate regarding relative and compound risks, the value of laboratory screening, whom and when to screen for these markers, which tests and methodologies to use, and the form and duration of therapeutic management. The current article explores several important issues primarily from a scientific perspective and predominantly related to laboratory testing. Many of these issues appear to be simply overlooked by some clinicians managing patients with thromboses. In brief, although there is potential significance in testing for various thrombophilia-associated markers, this value is limited and greatly diminishes when inappropriately applied. The application of excessive or inappropriate thrombophilia testing is of particular concern, and the net effect of current worldwide testing trends is likely to be more detrimental than beneficial. In short, it is likely that current generalized testing is simply doing more harm than good, and thus that ordering practice requires scrutiny.
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PMID:Laboratory investigation of thrombophilia: the good, the bad, and the ugly. 2001 36


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