Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149871 (deep vein thrombosis)
12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The presence of lupus anticoagulant (LA) and anticardiolipin antibodies (ACA) are associated with recurring pregnancy loss. Of 387 consecutive patients investigated at a Recurring Miscarriage Clinic over a three year period, 63 (16%) were positive for LA and ACA or both. Fifty-nine patients by definition were classified as having antiphospholipid syndrome and four also had systemic lupus erythematosus (SLE). Fifty-three subsequent pregnancies occurred in 63 patients and of these 37 ended in a live birth giving an overall livebirth rate of 70%. Treatment included low dose aspirin alone in 37 pregnancies and low dose aspirin and low molecular weight heparin (LMWH) in 16 pregnancies. The decision for treatment was made empirically on past obstetric history and level of LA and ACA, and past history of venous thromboembolic disease. Obstetric outcome was worst in the group who were positive for both LA and ACA, with a success rate of 53%, compared to 72 or 81% in the single parameter groups. Complications in the 37 successful pregnancies included eight Caesarean sections, four cases of intra-uterine growth restriction, one case of pregnancy induced proteinuric hypertension, one deep vein thrombosis and one pulmonary embolism. Patients with antiphospholipid syndrome are at high risk of pregnancy loss as well as maternal morbidity, especially thrombo-embolic disease. A randomised prospective controlled trial is necessary to determine the optimum therapy for pregnancy conservation and thrombprophylaxis.
Lupus 1997
PMID:Obstetric outcome in antiphospholipid syndrome. 925 8

Antiphospholipid-protein syndrome (APS) comprises venous and arterial thrombosis, spontaneous abortion and thrombocytopenia in patients with antiphospholipid-protein antibodies (APA). Such antibodies are detected by immunoenzymatic (ELISA) methods (e.g. anticardiolipin antibodies-ACL) or coagulation assays (lupus anticoagulant-LA). APS in patients showing other symptoms of autoimmune disease is called secondary antiphospholipid-protein syndrome. The aim of the study was to find relation between history of thrombosis and APA in a group of patients with lupus erythematosus and lupus-like disease. Lupus anticoagulant was detected by a three step procedure using phospholipid dependent clotting assays and anticardiolipin antibodies were measured by ELISA. We studied 95 subjects (91 women, 4 men) suffering from lupus erythematosus (67 patients) and lupus-like-disease (28 patients). Lupus anticoagulant was found in 26, anticardiolipin antibodies IgG in 34 and IgM in 27 subjects. In a retrospective study 40 thrombotic events were detected in 36 patients; deep vein thrombosis in 19, pulmonary embolism in 7, ischaemic CNS events in 13 and myocardial infarction in one. Thrombosis was present more often in subjects with LA (61%) and ACL IgG (52%) than in subjects without these antibodies (24%) (p = 0.004 and 0.015, respectively). ACL IgM antibodies were not related to thrombotic episodes. The ACL IgG antibodies and LA are helpful in identifying subjects at risk factors of venous and arterial thrombosis among patients suffering from lupus erythematosus and lupus-like disease.
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PMID:[Prevalence of thrombosis in secondary antiphospholipid-protein syndrome]. 927 2

Congenital deficiency in coagulation inhibitors is a cause of hereditary thrombotic disease. The severity of symptoms is variable and depends on the type of deficit. In this paper, 44 children suffering from deep venous thrombosis, with a mean age of 5 years, were studied. A search for Lupus anticoagulant (LA) and coagulation inhibitor deficiency showed: 3/44 cases (6.8%) had protein S deficiency, 2/44 cases (4.5%) had protein C deficiency, 1/44 cases (2.3%) had deficiencies in both protein C and S; no cases of AT III deficiency and LA was positive in 2/44 cases (4.5%). Only 1 case of APC resistance out of 13 studied was found. Four family studies were performed and confirmed the congenital origin of the disorder.
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PMID:Thrombosis in congenital deficiencies of AT III, protein C or protein S: a study of 44 children. 949 88

Lupus anticoagulants (LAs) are immunoglobulins which prolong 1 or more of the in vitro phospholipid-dependent tests of coagulation (e.g., activated partial thromboplastin time [APTT], dilute Russell viper venom time [dRVVT], kaolin clotting time [KCT], and textarin time [TT]). Paradoxically, patients with LAs rarely experience hemorrhagic problems. Approximately 1/3 of individuals with LAs experience thromboembolic complications such as stroke, deep vein thrombosis, and pulmonary emboli. LAs are members of the antiphospholipid antibody (APA) family. The APA family includes: LAs, anticardiolipin antibodies (ACAs), and reagin (the antibody responsible for the positive serologic test for syphilis). In approximately 60% of the patients, a LA and an ACA will both be present. The diagnosis of LAs requires an organized approach. Careful preparation of platelet poor plasma (PPP) is essential to assure maximum detection of LA. In order to rule out LAs, it is necessary to perform at least 2 screening tests (e.g., APTT, dRVVT). Additional steps in the diagnosis of LAs include mixing studies to identify the presence of an inhibitor and confirmatory procedures to demonstrate phospholipid-dependence of the inhibitor. It is also important to rule out any other potential coagulopathies which may account for the prolonged screening studies.
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PMID:Lupus anticoagulants: diagnostic dilemma and clinical challenge. 1016 22

Antiphospholipid antibodies syndrome has emerged as an important entity responsible for stroke in young. Seven cases of young stroke (< 40 years of age) with mean age of 30.1 years (age range 25-39 years, 2 males and 5 females), who tested positive for antiphospholipid antibodies are being reported. All subjects had completed strokes. Six had arterial ischaemic and one patient had venous stroke. One patient suffered from four episodes, three ischaemic and one intracerebral haemorrhage. Two patients suffered from foetal loss. Generalised tonic clonic seizures occurred in three patients. Deep vein thrombosis was observed in one case. Thrombocytopenia was not observed in any case. All the patients had elevated anticardiolipin antibodies (aCL) IgM or IgG, while Lupus anticoagulant (LA) was elevated in 4 cases. Six cases belonged to primary antiphospholipid antibodies syndrome and one to lupus like illness. Oral anticoagulants were administered to maintain a high intensity international normalized ratio (INR). No recurrences were observed during a follow up period of 6-18 months.
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PMID:Antiphospholipid antibodies syndrome in 'Stroke in young'. 1040 37

The goal of this article is to study the association of known markers of thrombophilia with venous thrombosis in young patients (< 45 years) from the Western part of India. A prospective study of 432 patients (252 males and 180 females, age 1-45 years) was conducted between 1994 and 2000 (6 years). The diagnosis was confirmed in all the patients by ultrasound with Doppler or by a computed tomograph (CT) scan of the brain with or without contrast depending on the case. Detailed clinical examination, and family history was taken to establish recurrent thrombosis and familial occurrence of thrombosis. The markers studied were protein C, protein S, antithrombin (AT) III, factor V Leiden mutation, prothrombin gene G20210A polymorphism, and the thermolabile MTHFR variant C677T polymorphism, using appropriate techniques. Lupus inhibitor was tested in the first 72 patients using Dilute Russel Viper Venom Time (DRVVT) test, and anticardiolipin antibodies were tested by enzyme-linked immunosorbent assay. Protein C, protein S, and AT III deficiency was detected in 9.5%, 6.5%, and 2.6%, respectively, among the patients. Anticardiolipin antibody was present in 9.9% of the patients, whereas lupus anticoagulant was present in 8.3% of patients; factor V Leiden mutation was detected in 3% of patients; thermolabile variant of MTHFR C677T polymorphism was present in 14.9% of patients with 1.2% homozygotes. Prothrombin G20210A polymorphism was not detected in any sample in this population. One hundred and four patients of 432 (24.9%) had recurrent attacks of thrombosis without any proximate precipitating cause, whereas 7.5 % of the patients had another close member of the family with a history of deep venous thrombosis. Eighty-six members from 28 families (out of 32 families giving family history of thrombosis) were investigated and found to have protein C and protein S deficiency in seven each; factor V Leiden was present in 6, and MTHFR C677T polymorphism was present in 5 cases. Hence, 25 of 86 members (28%) from the family of patients with familial history deep venous thrombosis had positive markers for thrombophilia. Thus, we could show that in young patients presenting with thrombosis, at least 34% of them had a demonstrable cause for thrombophilia. Prothrombin gene polymorphism G20210A seems to be nonexistent in our population and AT III deficiency also appears to be low compared to other markers of thrombophilia. There is a high prevalence of variant MTHFR C677T in our series, but the incidence of MTHFR C677T in our general population is also high. Hence, the significance of this finding in our cases of deep venous thrombosis remains to be seen, but we did not see any homozygotes when we tested 70 randomly selected asymptomatic persons, whereas in the present series, 1.8% of the patients had homozygosity for the MTHFR C677T polymorphism.
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PMID:Venous thromboembolism in young patients from western India: a study. 1129 95

The aim of this study was to examine potential links between antiOxLDL antibodies and the clinical and biological features of secondary antiphospholipid syndrome (II APLS) associated with systemic lupus erythematosus (SLE). A cohort study was done of 98 SLE patients followed-up for 1 y, including 18 with definite II APLS and 13 patients with definite primary APLS (I APLS). IgG anticardiolipin, IgG anti beta2 GPI, lupus anticoagulant, VDRL and IgG antiOxLDL were measured in all 98 study subjects. High antiOxLDL titers were found in seven (39%) of the 18 patients with II APLS vs 10 (12.5%) of the 80 patients without APLS (P < 0.01; OR = 4.45; 95% CI = 1.4-14.1) and none of the 13 patients with I APLS (P < 0.02). The mean antiOxLDL titer was not significantly higher in the SLE patients with than without II APLS (P > 0.05). A high antiOxLDL titer was correlated with deep venous thrombosis (P < 0.01; OR = 5.77; 95% CI = 0.54-61) but not with arterial thrombosis (P > 0.05; OR = 1; 95% CI = 0.29-3.09), thrombocytopenia, central nervous system involvement, livedo reticularis, or a positive Coombs test. The antiOxLDL antibody titer was correlated with the IgG anticardiolipin antibody titer (r = 0.235; P = 0.02) and with the IgG anti-beta2 GPI antibody titer (r = 0.224; P = 0.026). AntiOxLDL elevation was found in 17% of SLE patients and was significantly associated with II APLS and venous thrombosis. We found no evidence suggesting that antiOxLDL may be associated with atherosclerosis.
Lupus 2001
PMID:Anti-oxidized low-density-lipoprotein (OxLDL) antibodies in systemic lupus erythematosus with and without antiphospholipid syndrome. 1140 65

The objective of this paper is to investigate the long-term outcome of primary antiphospholipid syndrome (APS) in the paediatric age. The features of unselected patients with primary APS who had disease onset before the age of 16 years were retrospectively analysed in three Italian referralcentres. Clinical and laboratory manifestations were assessed to establish whether, at the end of follow-up, the final diagnosis was still primary APS or whether they had developed definite SLE or lupus-like syndrome. Fourteen patients, nine boys and five girls, who had the presenting clinical manifestation of APS between three and 13 years of age (median nine years) and were followed for two to 16 years (median six years). Six patients presented with deep vein thrombosis, five with cerebral stroke, two with peripheral artery occlusion and onewith myocardial infarction. During follow-up, four patients had one or more recurrences of vascular thrombosis. At last observation, 10 patients could still be classified as having primary APS, two had developed SLE, one lupus-like syndrome and one Hodgkin's lymphoma. In conclusion; our analysis suggests that some children who present with the features of primary APS may progress to develop SLE or lupus-like syndrome.
Lupus 2003
PMID:Outcome of primary antiphospholipid syndrome in childhood. 1287 46

Although a few reports in recent years have suggested that patients with antiphospholipid antibodies (aPL) are prone to developing primary anetoderma (PA), it is still unclear how often aPL are detected in unselected PA patients. We studied nine consecutive PA patients for the presence of autoimmune antibodies and disorders in general and the presence of aPL in particular. Six of the nine patients had clinical evidence of associated autoimmune disorders (Graves'disease and autoimmune haemolysis in one, systemic scleroderma in one, Hashimoto's thyroiditis in one, alopecia areata in one) and/or signs of hypercoagulability (recurrent fetal loss in two, recurrent stokes in one, recurrent deep vein thrombosis in one). In four ofthese six patients the onset of PA preceded these signs. Positive aPL was found in all: anticardiolipin (aCL) in six, anti-beta2-glycoprotein-I (a(beta)2GPI) in six and lupus anticoagulant (LAC) in four. The most frequent isotype was IgA. Among other autoantibodies found the most frequently was antinuclear antibodies. Four ofthe nine patients fulfilled the criteria for antiphospholipid syndrome (APS). It is concluded that PA is an important cutaneous sign for autoimmune disorders in general and the presence of aPL in particular. Hence, the work-up of these patients should include testing for LAC as well as for all different isotypes ofaCL and a(beta)2GPI. We recommend that PA be added to the list of the cutaneous manifestations of APS.
Lupus 2003
PMID:Primary anetoderma: a cutaneous sign of antiphospholipid antibodies. 1289

Paediatric patients with systemic lupus erythematosus (SLE) and antiphospholipid antibodies (aPL), specifically lupus anticoagulants (LAC) are at high risk of developing thromboembolic events (TE). Our objectives were to determine the prevalence of TE in paediatric SLE patients with LAC and to determine if anticoagulation was effective to decrease morbidity, and prevent recurrent TE. We reviewed data on 149 paediatric SLE patients treated over 10 years. In all, 24 patients (16%) were LAC positive, and 21 TE occurred in 13 of these LAC positive patients (54% incidence of TE in LAC positive patients). The events were cerebral venous thrombosis (9), arterial stroke (3), deep venous thrombosis (4), pulmonary embolism (2), other venous event (1) and other arterial events (2). The median duration between SLE diagnosis and first TE was 15.2 months (range 0-62), and the median age at first TE was 15.1 years (range 11.4-18.4). Long-term anticoagulation was prescribed, and eight patients (62%) were transferred to adult care on lifelong oral warfarin; four (31%) remain under our care on lifelong warfarin, and one patient died of causes unrelated to her TE. No patient has been identified with deficiencies of protein C, protein S or antithrombin III. One patient is heterozygous for Factor V Leiden, and one is heterozygous for both the Prothrombin 20210A mutation and the MTHFR (methylene tetrahydrofolate reductase) mutation. Four patients had recurrent TE (31%), and three were not anticoagulated at the time of their second event. One patient had two recurrences on therapeutic anticoagulation. Thromboembolic events are prevalent in the LAC positive paediatric SLE population, and consideration for lifelong anticoagulation must occur after an initial TE.
Lupus 2003
PMID:Thromboembolism in paediatric lupus patients. 1459 22


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