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)

The purpose of this study was to examine the relationship among adverse pregnancy outcome, the presence of thrombotic lesions in the placenta, and the frequency and type of laboratory abnormalities consistent with the presence of a thrombophilic state. A retrospective cohort study was designed to determine the frequency of laboratory abnormalities consistent with thrombophilia among patients with thrombotic lesions of the placenta and adverse pregnancy outcome. The workup for a thrombophilic state included anticardiolipin antibodies, lupus anticoagulant, protein C and antithrombin III activities, protein S total and free, activated protein C resistance ratio, and Factor V Leiden mutation. Thrombotic lesions were identified by histopathologic examination of the placenta. Thirteen patients met the study criteria over an 11-month period. Seven patients were heterozygous for Factor V Leiden mutation (53.8%). Protein S deficiency was found in three cases (23.0%), and no hemostatic abnormality was detected in three cases (23.0%). Mothers with an adverse pregnancy outcome and thrombotic lesions of the placenta often have laboratory abnormalities indicative of a thrombophilic state. We propose that thrombophilia leading to thrombosis in the maternal and/or fetal circulations is a significant mechanism of disease during pregnancy.
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PMID:Thrombophilia: a mechanism of disease in women with adverse pregnancy outcome and thrombotic lesions in the placenta. 984 93

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

Deep venous thrombosis of the upper extremity (DVTUE) is a rare thrombotic disorder that may occur spontaneously but is most often related to predisposing factors, such as an indwelling central venous catheter, malignancy, or exercise. The role of coagulation disorders, i.e., a hypercoagulable state in the pathogenesis of DVTUE is not well known. We have evaluated both genetic and acquired thrombophilia parameters in consecutive patients with DVTUE. A hypercoagulable state was found in 32% of the patients. The most frequent coagulation abnormality was the presence of lupus anticoagulant or anticardiolipin antibodies (27%). Factor V Leiden mutation was detected in two patients, antithrombin deficiency in one, and none of the patients had the prothrombin G20210A gene variant or protein C or S deficiency. The prevalence of coagulation abnormalities was not significantly different in a subgroup of patients with spontaneous DVTUE as compared to those with an obvious predisposing factor, such as an indwelling central venous catheter. We conclude that antiphospholipid antibodies are frequently found in patients with DVTUE. Factor V Leiden mutation, prothrombin 20210A gene variant, protein C deficiency, and protein S deficiency do not seem to play a major pathogenetic role in DVTUE.
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PMID:Hypercoagulability states in upper-extremity deep venous thrombosis. 1127 52

Sneddon syndrome (SNS) is characterized by the association of ischaemic cerebrovascular events and widespread livedo racemosa. Its pathophysiology is still controversial. The aim of this study was to evaluate the prevalence of factor V Leiden mutation in consecutive patients referred for SNS according to antiphospholipid antibodies (aPL) status. Fifty-three Caucasian patients were enrolled from 1996 to 2001. Diagnosis of SNS was based on the presence of a widespread livedo racemosa and at least one clinical neurologic ischaemic event. The following investigations were performed: detection of antithrombin III, protein C and protein S deficiency, lupus anticoagulant, anticardiolipin and anti-beta2 glycoprotein I antibodies, biologic false-positive test for syphilis, and factor V Leiden mutation by direct genomic analysis. Fisher's test and t-test were used for statistics. Detection of aPL on multiple determinations was negative in 31 patients (group 1) and positive in 22 patients (group 2). Factor V Leiden mutation was detected in six patients (11.3%), heterozygous in all. The frequency of this mutation was statistically higher in group 1 (6/31, 19.3%) than in group 2 (0/22; P = 0.035). Within aPL-negative SNS, the comparison of patients with versus without factor V Leiden mutation showed no difference for clinical data or familial history of thrombosis. A high prevalence of heterozygous factor V mutation was found in aPL-negative patients with SNS. This finding adds further arguments to consider SNS as a heterogeneous entity.
Lupus 2003
PMID:Factor V Leiden mutation in Sneddon syndrome. 1276 5

Cranial dural arteriovenous fistulae (DAVF) may occur post-traumatic or sporadic. The physiopathologic mechanisms of sporadic DAVF are still unclear. A dural sinus thrombosis followed by an increase in venous pressure and/or an increased procoagulatory activity of the coagulation system are associated at least with some DAVF. The objective of this study was to investigate the coagulation profile in patients with DAVF. Thus the association of thrombophilic abnormalities, sinus thrombosis and DAVF should be analyzed. A total of 15 patients with cranial DAVF were included in this study. Blood samples were analyzed for 20210A mutation of the prothrombin gene, resistance to activated protein C and factor V Leiden mutation. Fibrinogen (Fib), Textarin time (TT), antithrombin (AT), protein C and protein S activity, von Willebrand factor antigen (vWF:Ag), Ristocetin cofactor activity (vWF:RCo), D-Dimer (DD) and coagulation factor VIII-activity (F VIII) were determined in all patients. Blood was screened for the occurrence of lupus antiphospholipid antibodies and cardiolipin antibodies. Thrombophilic risk factors were found in 5 (33%) of the 15 patients with cranial DAVF. Four patients had a heterozygote 20210A mutation of the prothrombin gene and one patient had a heterozygote FV Leiden mutation. Sinus thrombosis was detected in two patients with grade 2b DAVF and was associated with a 20210A mutation of the prothrombin gene in both patients. Additionally, one patient had deficient protein C activity and screening for cardiolipin antibodies was positive in three patients. In the current series the frequency of prothrombin Gene 20210A mutation was higher in patients with DAVF compared to the general population, whereas the incidence of Factor V Leiden mutation was not. Therefore in patients with cranial DAVF thrombophilic abnormalities should be considered in the post-operative/post-interventional management.
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PMID:Increased incidence of thrombophilic abnormalities in patients with cranial dural arteriovenous fistulae. 1457 93

Although patients undergoing cardiac surgery often present with diverse comorbidities, those with coagulation derangements are especially challenging. The present report describes the management of a patient who presented with a Factor V Leiden mutation, lupus anticoagulant, and acquired activated protein C resistance. A 42-year-old female presented with acute shortness of breath and chest pain. She was otherwise healthy 1 month prior to admission when she presented with dysfunctional uterine bleeding, resulting in the transfusion of three units of packed red blood cells. Coagulation evaluation revealed that the patient had lupus anticoagulant, factor V Leiden mutation and an activated protein C resistance. The patient presented with an acute myocardial infarction and was found to have 90% stenosis of her left main coronary artery, moderate mitral and tricuspid regurgitation, and a left ventricular ejection fraction of 25%. An emergent off-pump coronary artery bypass procedure with placement of a vein graft to the left anterior descending artery was completed. Intraoperative thrombophilia was encountered as evidenced by both an elevated thromboelastograph coagulation index (+3.6) and an acquired antithrombin-III deficiency. Postoperatively, the patient was placed on low molecular weight heparin, but developed heparin-induced thrombocytopenia and was switched to a direct thrombin inhibitor, argatroban. The following case report describes the coagulation management of this patient from the time of admission to discharge 43 days later, and the unique challenges this combination of hemostatic defects present to the clinicians.
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PMID:Coagulation management of a patient with factor V Leiden mutation, lupus anticoagulant, and activated protein C resistance: a case report. 1591 49

Thrombophilia-hypofibrinolysis may play an important role in rare premature (< or = age 45 years) arterial occlusive events in atherothrombotic cardiovascular (ATCVD) disease, particularly in normolipidemic patients. Whether thrombophilia-hypofibrinolysis contributed to ATCVD < or = age 45 years was assessed in 78 men and 40 women with 230 ATCVD events (myocardial infarction (MI) [n = 60], coronary artery bypass graft [CABG, n = 33], angioplasty [n = 52], chronic angina [n = 41], ischemic stroke [n = 11], transient ischemic attack [TIA, n = 24], claudication [n = 9]). Cases were compared with healthy normal adult controls (44 men and 76 women). In men, the Factor V Leiden mutation was present in 6/63 (10%) cases versus 0/44 (0%) controls (P = 0.042), Factor VIII was high (>150%) in 16/60 (27%) cases versus 1/42 (2%) controls (P = 0.001), Factor XI was high (>150%) in 9/57 (16%) cases versus 0/42 (0%) controls (P = 0.009), and plasminogen activator inhibitor activity (PAI-Fx) was high (>21.1 U/mL) in 15/63 (24%) cases versus 3/43 (7%) controls (P = 0.023). In women, protein C was low (<73%) in 4/26 (15%) cases versus 0/74 (0%) controls (P = 0.004), and free protein S was low (<66%) in 5/27 (19%) cases versus 2/74 (3%) controls (P = 0.014). In women, Factor XI was high (>150%) in 3/27 (11%) cases versus 1/74 (1%) controls (P = 0.057), and the lupus anticoagulant was present in 9/32 (28%) cases versus 2/51 (4%) controls (P = 0.002). In patients with ATCVD < or = age 45 years, thrombophilias (Factor V Leiden, Factor VIII, Factor XI, protein C and S deficiency, lupus anticoagulant) and hypofibrinolysis (PAI-Fx, Lp[a]) may promote arterial thrombosis, which is synergistic with atherosclerotic endothelial injury.
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PMID:Thrombophilia-hypofibrinolysis and atherothrombotic cardiovascular disease < or = age 45 years. 1765 28

A 55-year-old man was admitted to us with a sense of numbness, tingling, and burning in his feet and headache, characterized as a feeling of pressure all around his head, for 1 year and aggravated in the past 3 months. The patient's neurologic examination was normal and he had no other known diseases except for hypertension according to his medical history. During the examination, we recognized purplish lesions on the patient's body. His kidney, liver, and thyroid function test results and vitamin B12 levels were all normal. His hematocrit level was 41.8%, platelet value was 234,000 (150,000-500,000); and sedimentation rate was 9 mm/h (0-20). Electromyography was performed and results were found to be normal. The patient was diagnosed as having small fiber neuropathy. Dermatologic examination revealed reddish blue mottling of the skin with fishnet reticular pattern on his back, on the front side of the body, and on both arms and legs, and the lesions were classified as livedo racemosa (Figure 1). Brain magnetic resonance imaging (MRI) showed subcortical hyperintense ischemic-gliotic signal changes on T2-FLAIR in the deep white matter of bilateral frontoparietal vertex, centrum semiovale, and corona radiata (Figure 2). FLAIR sequence axial MRI of the brain of our patient showed subcortical hyperintense lesions in both cerebral hemispheres. His cardiac examination was normal and minimal aortic regurgitation was seen on echocardiography. His cognitive assessment Minimental Test Score was 22, and Montreal Cognitive Assessment score was 18. Laboratory values for inflammatory markers and autoimmune antibodies including syphilis serology, lupus anticoagulants, and anticardiolipin antibodies were negative. Factor V Leiden mutation was not detected in the patient. The patient was diagnosed with Sneddon's syndrome with the above signs and symptoms and small fiber neuropathy. Clopidogrel 75 mg and gabapentin 1200 mg was started once a day and blood pressure regulation was achieved.
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PMID:Sneddon's syndrome presenting with neuropathic pain. 2405 13