Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004364 (autoimmune disease)
 24,845 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The antiphospholipid antibody syndrome (APLS) is multisystem, autoimmune disease, which is characterized by: thrombosis, obstetrics complications and thrombocytopenia. The two most clinically significant antiphospholipid antibodies (APLa) that are associated with recurrent pregnancy loss and thrombosis are anticardiolipin antibodies (ACL) and lupus anticoagulant (LA). The laboratory diagnosis is based on the presence of moderate to high positive ACL and/or LA. The inhibitory effect of antiphospholipid antibodies /APLa/ on trophoblast intercellular fusion, hormone production and invasion may cause pregnancy loss. Once placentation is established their thrombogenic action leads to decreased placental perfusion and subsequent infarction. The APLa--mediated inhibition of trophoblastic invasion and APLa--mediated vasculopathy in the placental bed arteries result in abnormal uterine artery /UA/ Doppler waveforms. The association between APLa and high resistance index /RI/ and/or diastolic notch /DN/ in the Doppler waveforms is high predictive for adverse pregnancy outcome, including pre-eclampsia/eclampsia, intrauterine growth retardation, placental abruption, intrauterine fetal death. Maternal treatment and careful monitoring of fetal well-being are mandatory in the management of these high-risk pregnancies.
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PMID:[Antiphospholipid syndrome and pregnancy]. 1516 53

Autoimmune diseases most commonly occur in women of childbearing age. Although some conditions such as ankylosing spondylitis are more common in men, over 70% of individuals with autoimmune diseases are women. This article focuses on SLE,which is often considered to be the "classic" autoimmune disease,and antiphospholipid syndrome (APS), which is associated with pregnancy loss and placental insufficiency.
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PMID:Autoimmune disease in pregnancy: systemic lupus erythematosus and antiphospholipid syndrome. 1520 Sep 67

Following broad recognition of the disorder called Antiphospholipid Syndrome (APS), it has come to be subcategorized into Primary (PAPS), Secondary (SAPS), and Catastrophic Antiphospholipid Syndrome (CAPS). Primary utilized when there is no associated disorder, secondary with an associated autoimmune disorder such as systemic lupus erythematosus (SLE), and "catastrophic" when thrombosis occurs at multiple sites in a short space of time. Are these entities different? Such differences should be demonstrated in terms of their clinical presentation, disease course, pathogenesis, or management. If no differences exist, is there a basis for continued use of these terms? This manuscript will attempt to explore distinctions between subgroups of the APS and reasons for or against perpetuation of these classifications in the literature.
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PMID:Primary, Secondary, Catastrophic Antiphospholipid Syndrome: is there a difference? 1550 65

Atherosclerosis has been considered an inflammatory disease based on the finding that atherosclerotic lesion contains activated T lymphocytes reacting with oxidized low-density lipoproteins (oxLDL) and heat shock proteins (HSP); it also contains autoantigens like beta2GPI, a target of antibodies occurring in an immune-mediated thrombophilia called antiphospholipid syndrome (APS). Further support to this hypothesis comes from the cross-reactivity, which occurs between antiphospholipid antibodies (aPL) and antibodies to oxLDL. Animal experiments have shown that aPL are associated with atheroma. In addition, accelerated atherosclerosis has been detected in patients with a prototype systemic autoimmune disease, such as systemic lupus erythematosus (SLE). However, the association of APS or aPL with atherosclerosis is a matter of debate due to the small numbers of patients studied, and the fact that traditional risk factors for atherosclerosis coexist. The prevalence of APS ranges from 1.7% to 6%, and that of aPL reaches to 14% among patients with peripheral vascular disease defined on the basis of clinical outcomes. On the other hand, the prevalence of asymptomatic atherosclerosis, defined in terms of plaques in ultrasonography, reaches to 15% of patients with APS compared to 9% of SLE patients and 3% of normal controls. Among SLE patients with aPL, the prevalence of plaques ranges from 6% in premenopausal women to 31% in unselected patients. Less than 10% of APS patients express premature atherosclerosis in the absence of other risk factors. Which APS patient will develop atherosclerosis is unpredictable.
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PMID:Peripheral vascular disease in antiphospholipid syndrome. 1550 85

Antiphospholipid syndrome (APS) is an autoimmune disease characterized by recurrent arterial or venous thrombosis or fetal loss and the presence of antiphospholipid antibodies (aPL). Genetic factors are thought to play a role in the susceptibility to APS. Similar to many other polygenic autoimmune diseases, human leukocyte antigen associations have been reported. The genetics of b(2)-glycoprotein I, one of the most representative target antigens of aPL, has been extensively studied. Additional genetic risk factors for the development of thrombosis in patients with aPL have also been discussed. However, the genes involved in APS have not been identified because antigen specificity of aPL and the pathophysiology of APS are highly heterogeneous and multifactorial. Genome-wide linkage analysis and larger cohort studies would lead to better understanding of the genes that might be involved in APS.
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PMID:Genetics of antiphospholipid syndrome. 1552 5

The endothelial cells produce substances whose elevated plasma levels acquire predictive value for the development of events. For instance, soluble thrombomodulin (sTM) levels evidence endothelial cell injury. Under specific clinical conditions the levels of sTM are raised, such as in patients with certain autoimmune disorders, pre-eclampsia or antiphospholipid syndrome. The levels of sTM, as an endothelial injury marker, were evaluated in 65 women with a history of recurrent pregnancy loss (12 with autoimmune disorders, 19 pregnant women and nine with a history of gestational hypertension or pre-eclampsia or eclampsia); 13 of them had antiphospholipid antibodies. sTM levels could be used as a predictor of pregnancy loss in future prospective studies. We compared those levels with the levels found in control groups without recurrent pregnancy loss (20 healthy women and 14 women with autoimmune disorder). There were no statistically significant differences (P = 0.729) in the levels of sTM between the recurrent pregnancy loss group (31.1 ng/ml) and the healthy control group (31.4 ng/ml) or between the different subgroups with recurrent pregnancy loss (P = 0.873) and the healthy control group or the control group with autoimmune disorder (28.0 ng/ml). There were no statistically significant differences (P = 0.605) in the levels of sTM among the patients with recurrent pregnancy loss, with or without moderate or high antiphospholipid antibodies (32.0 versus 23.3 ng/ml). Consequently, the levels of sTM would not seem to be a useful tool, as an endothelial injury marker, in women with a history of recurrent pregnancy loss with or without antiphospholipid antibodies.
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PMID:Soluble thrombomodulin levels among women with a history of recurrent pregnancy loss, with or without antiphospholipid antibodies. 1565 May 43

Antiphospholipid syndrome (APS) is an autoimmune disease. Less than 1% of patients with APS present with life-threatening catastrophic APS (CAPS). We report here a case of CAPS in a young girl with cardiac, gastrointestinal and renal involvement. Although the management was complicated, the outcome was better than expected. We suggest that CAPS be included in the differential diagnosis of acute renal failure in children with multi-organ involvement and prolonged phospholipid-dependent coagulation time and promptly treated with immunomodulating agents and anticoagulants.
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PMID:Catastrophic antiphospholipid syndrome in a 14-year-old child. 1571 63

Antiphospholipid syndrome (APS, Hughes' syndrome) is a systemic autoimmune disorder characterized by arterial and/or venous thrombosis and recurrent foetal loss, accompanied by mild to moderate thrombocytopaenia and elevated titres of antiphospholipid antibodies (aPLs): lupus anticoagulant (LAC) and/or anticardiolipin (aCL) antibodies. APS was defined originally in 1983 in systemic lupus erythematosus (SLE) patients, but later it was found that APS can be primary or secondary to other autoimmune diseases or malignancy. During the past 20 years many organs have been reported to be involved in this syndrome and the clinical manifestations are seen in every medical field. Moreover, many aPLs have been found in APS besides aCLs and LACs, which bind to the autoantigen beta-2-glycoprotein I (beta2GPI). Treatment for APS, based on antiplatelet and anticoagulation drugs, is dependent on various parameters, including whether SLE is also present, classical vs non-classical manifestations of the diseases, women with APS based on pregnancy morbidity, the presence of elevated aCL antibody titres in the absence of clinical manifestations, and catastrophic APS.
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PMID:The systemic nature of the antiphospholipid syndrome. 1579 93

Antiphospholipid syndrome (APS) is a systemic autoimmune disorder characterized by a combination of arterial or venous thrombosis and recurrent fetal loss, accompanied by elevated titers of antiphospholipid antibodies (aPL). APS has been recognized as the leading cause of vascular thrombosis in children. The diagnostic and therapeutic approach to APS in childhood may be different from that for adults and because of the rarity of aPL-related thrombosis in children, the natural history and optimal management of APS can be defined only through large, multicenter, controlled studies.
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PMID:Antiphospholipid syndrome. 1793 75

Antiphospholipid syndrome (APS) is an autoimmune disorder associated with either arterial and/or venous thrombosis (1). Two cases of APS, which were diagnosed in the second trimester during the diagnostic workup of fetal bradycardia, are presented.
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PMID:Diagnosis of antiphospholipid syndrome during the diagnostic workup of second-trimester fetal bradycardia. 1582 32


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