Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0409974 (lupus)
 22,386 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The antiphospholipid antibody syndrome (APLAS), though an uncommon entity involves multiple organs in the body. The antiphospholipid antibodies (APLA) refer to several groups of autoantibodies against negatively charged phospholipids occurring independently or in association with systemic lupus erythematosus (SLE) and related autoimmune disorders. Several studies to date found those patients with APLA, predominantly IgG and to lesser extent IgM isotype and lupus anticoagulant (LAC) are associated with arterial and venous thrombosis, recurrent fetal loss, thrombocytopenia, and livedo reticularis. We have described two cases of APLAS, one primary and the other secondary, their management and cardiac manifestations. Cardiac manifestations of the syndrome include coronary artery thrombosis and valvular heart disease. These can be serious and difficult to treat. Although the exact treatment of the cardiac manifestations of APLAS is not clear, anticoagulation is the currently recommended therapy.
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PMID:Cardiac manifestations of the antiphospholipid antibody syndrome: a review. 1197 83

Systemic lupus erythematosus (SLE) is an inflammatory multisystem disease of unknown etiology with immunologic aberrations. Many studies have shown that genetic and environmental factors are implicated in the development of SLE. Angiotensin-converting enzyme (ACE) affects various immune phenomena through the renin-angiotensin and kallikrein-kininogen systems by creating angiotensin II and inactivating bradykinin. We investigated the correlation between insertion/ deletion polymorphism of the ACE gene and the clinical manifestations of SLE, especially vascular involvement and lupus nephritis. Two-hundred and eleven Korean patients fulfilling the ACR criteria and 114 healthy subjects were enrolled. The ACE genotype was determined by polymerase chain reaction using genomic DNA from peripheral blood. The nephritis patients were classified by the WHO classification. In addition, the activity and chronicity index were used to assess the severity of renal involvement. We evaluated vascular involvement by the presence or absence of hypertension, Raynaud's phenomenon, livedo reticularis, antineutrophil cytoplasmic antibody and the SLICC/ACR Damage Index. The gene frequency of ACE gene polymorphism was as follows: II 39 vs 34%, ID 41 vs 50%, DD 20 vs 16% in SLE patients and controls, respectively. There was no difference in genotype frequency between both groups. There were no significant differences between the distribution of ACE gene genotypes and lupus nephritis and its related parameters, including WHO classification, activity index, chronicity index, renal dysfunction and amount of 24 h urinary protein. The ACE genotypes and alleles did not affect the presence of vascular manifestations evaluated, but the frequency of DD genotype was significantly low in SLE patients with Raynaud's phenomenon compared to those without Raynaud's phenomenon (P = 0.002 for ACE ID vs DD and II, OR 2.7, 95% CI 1.43-5.09; P=0.023 for ACE DD vs ID and II, OR 0.33, 95% CI 0.12-0.89). Also skewing from DD to II genotype was noted in patients with anti-Sm antibody compared to those without anti-Sm antibody (P = 0.025 for ACE DD vs ID and II, OR 0.21, 95% CI 0.05-0.93). The onset age of serositis was older in patients with the ID genotype than the others (ID= 34.5+/-10.8, II + DD = 25.6+/-10.2, P= 0.002). Also the onset age of malar rash was older in patients with II genotype than the others (II=26.7+/-8.4, ID+DD=21.3+/-9.0; P=0.021). The patients with I allele showed a significantly higher frequency of serositis (P = 0.022). Taken together, the I/D polymorphisms of ACE gene did not affect susceptibility of SLE, lupus nephritis and the vascular manifestations, including Raynaud's phenomenon, in Korean SLE patients, although the DD genotype was negatively associated with Raynaud's phenomenon among SLE patients. However, it would be valuable to evaluate the role of other genes potentially related to vascular events, such as endothelin, nitric oxide or angiotensin II receptor as well as ACE gene.
Lupus 2002
PMID:Angiotensin-converting enzyme gene polymorphism and vascular manifestations in Korean patients with SLE. 1263 Jul 62

Antiphospholipid antibody syndrome has been associated with vascular thrombosis, thrombocytopenia, hemolytic anemia, livedo reticularis, neurologic disorders, and recurrent fetal loss. The diagnosis of antiphospholipid syndrome is given in the presence of an elevated anticardiolipin antibody lupus anticoagulant in addition to a thrombotic event. Antiphospholipid antibodies are responsible for a majority of thrombotic events in children. These antibodies can present as a primary syndrome or secondary to other diseases, such as systemic lupus erythematosus. Anticoagulation therapy with heparin and low-dose aspirin is the recommended treatment in pediatric patients.
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PMID:Antiphospholipid antibodies in pediatrics. 1221 42

We report a case of a patient with clinical features of progressive supranuclear palsy and raised titres of anticardiolipin antibodies in blood, thrombocytopenia and livedo reticularis on skin. Magnetic resonance imaging of brain and isotope scan of brain were distinctive of vascular disorder.
Lupus 2003
PMID:Primary antiphospholipid antibody syndrome masquerading as progressive supranuclear palsy. 1258 30

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

The classical clinical picture of the antiphospholipid syndrome (APS) is characterized by venous and arterial thromboses, fetal losses and thrombocytopenia, in the presence of antiphospholipid antibodies (aPL), namely lupus anticoagulant (LA), anticardiolipin antibodies (aCL), or antibodies to the protein "cofactor" b2 glycoprotein I. Single vessel involvement or multiple vascular occlusions may give rise to a wide variety of presentations. Any combination of vascular occlusive events may occur in the same individual and the time interval between them also varies considerably from weeks to months or even years. Deep vein thrombosis, sometimes accompanied by pulmonary embolism, is the most frequently reported manifestation in this syndrome. Cerebrovascular accidents-either stroke or transient ischemic attacks-are the most common arterial thrombotic manifestations. Early and late fetal losses, premature births and pre-eclampsia are the most frequent fetal and obstetric manifestations. Additionally, several other clinical features are relatively common in these patients, i.e., thrombocytopenia, livedo reticularis, heart valve lesions, hemolytic anemia, epilepsy, myocardial infarction, leg ulcers, and amaurosis fugax. However, a large variety of other clinical manifestations have been less frequently described in patients with the APS, with prevalences lower than 5%. These include, among others, large peripheral or aortic artery occlusions, Sneddon's syndrome, chorea, transverse myelopathy, intracardiac thrombus, adult respiratory distress syndrome, renal thrombotic microangiopathy, Addison's syndrome, Budd-Chiari syndrome, nodular regenerative hyperplasia of the liver, avascular necrosis of the bone, cutaneous necrosis or subungual splinter hemorrhages. In this article, some of these "unusual" manifestations are reviewed.
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PMID:Unusual manifestations of the antiphospholipid syndrome. 1279 62

The present study evaluates the incidence of antiphospholipid antibody syndrome (APS) in systemic rheumatic diseases patients with anticardiolipin antibodies. Clinical presentations of systemic rheumatic diseases in patients with or without APS are examined as well. The data from 242 consecutive patients suffering from rheumatoid arthritis (158 pts), systemic erythematoid lupus (53 pts), or systemic sclerosis (31 pts) are studied. Enzyme immunoassay test for IgG-anticardiolipin antibodies was performed for all patients. The IgG-anticardiolipin antibodies were found in 38 (15.7%) patients. There were 16 (30.2%) patients in erythematoid lupus group, 9 (29%) patients in systemic sclerosis group, and 13 (8.2%) patients in rheumatoid arthritis group. The diagnosis of secondary APS according to classificational criteria (1998) was confirmed in 14 (36.8%) from 38 seropositive patients: ten patients (62.5%) in lupus group, 2 (22.2%) patients in systemic sclerosis group, and 2 (15.4%) patients in rheumatoid arthritis group were found as APS patients. The majority of these patients were female (92.9%). These patients were younger as compared with systemic rheumatic diseases patients without APS (p=0.005). There was no significant difference found between APS patients and patients without APS in respect to neither duration of primary disease, nor disease activity, nor course of the disease. There were significantly more cases of fibrotic heart valves (p=0.028), and thrombocytopenia (p=0.002), and livedo reticularis (p=0.058) in APS group.
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PMID:[Antiphospholipid syndrome in patients with systemic connective tissue diseases]. 1279 67

Our objective was to determine the HLA-DPB1 allele associations of anticardiolipin (aCL) and anti-beta2GPI (a(beta)2GPI) antibodies, and of clinical manifestations of the antiphospholipid syndrome (APS), in systemic lupus erythematosus (SLE). We studied 577 European patients with SLE. aCL and a(beta)2GPI antibodies were measured by ELISA. Molecular typing of HLA-DPB1 locus was performed by polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) method. aCL showed positive association with -DPB1*1501 (P = 0.005, OR = 7.4), and -DPB1*2301 (P = 0.009, OR = 3.3). a(beta)2GPI showed positive association with -DPB1*0301 (P = 0.01, OR = 1.9), and -DPB1*1901 (P = 0.004, OR = 8.1). In addition, livedo reticularis was associated with -DPB1*1401, and Raynaud's phenomenon with -DPB1*2001. In conclusion, HLA-DPB1 locus may contribute to the genetic predisposition to develop antiphospholipid antibodies and clinical manifestations of the APS in patients with SLE.
Lupus 2003
PMID:HLA-DPB1 alleles association of anticardiolipin and anti-beta2GPI antibodies in a large series of European patients with systemic lupus erythematosus. 1289 99

The objective was to analyze the prevalence of mucocutaneous lesions in patients with systemic lupus erythematosus (SLE). During a 3-year period, we analyzed 77 patients with a diagnosis of SLE. The mucocutaneous lesions were classified into specific and non-specific. We defined skin type, sunlight exposure and photoprotection and correlated these lesions with serology and disease activity. Acute specific lesions were found in 67.5% of the patients, subacute lupus in 6.5% and chronic lesions in 26.0%. The most prevalent non-specific lesions were alopecia (59.7%), photosensitivity (57.1%), Raynaud's syndrome (46.7%), oral ulcerations (15.6%) and livedo reticularis (11.7%). Skin type 3 (35%) and exposure to mild ultraviolet radiation (74%) were seen in the majority of the patients. Appropriate sunlight protection was only used by 47% of the patients. When dermatological lesions and serology were compared, we found a significant association between malar rash, photosensitivity, livedo reticularis and alopecia with the presence of anti-Ro and Raynaud's phenomenon in patients with positive anti-Sm. The presence of malar rash, photosensitivity, Raynaud's phenomenon, diffuse alopecia and livedo reticularis was more frequent among patients with active disease. The prevalence of mucocutaneous manifestation in our population was slightly higher than data reported in other series. The presence of malar rash, diffuse alopecia, photosensitivity and livedo reticularis significantly related with the presence of anti-Ro and Raynaud's phenomenon with anti-Sm. All these lesions were more frequently seen in patients with active disease.
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PMID:[Mucocutaneous lesions in patients with systemic lupus erythematosus]. 1451 40

Hyperactivity of coagulation factor VIII (fVIII) marks hypercoagulation. FVIII enhances activity of factor IX and their combination activates factor X, which is of primary importance in prothrombin transformation into thrombin, on the phospholipid membrane. The activity of fVIII was studied in 28 patients (26 women, 2 men, mean age 49.6 +/- 7.8 years) with Sneddon's syndrome (SS). SS manifests clinically similarly to primary antiphospholipid syndrome (PAS). The leading of them are ischemic disorders of cerebral circulation (IDCC) and advanced livedo present in all the examinees. Hyperactivity of fVIII was registered in 21 (75%) of 28 patients. Most of thrombosis-related symptoms occurred more frequently in patients with high than normal activity of fVIII: ischemic strokes (91% vs 57%, p > 0.05), repeated strokes (71% vs 0%, p = 0.0014), transient IDCC (76% vs 57%, p > 0.05), vascular dementia (43% vs 0%, p > 0.05), ischemic heart disease (43% vs 0%, p > 0.05), thickening of heart valves according to echocardiography (91% vs 57%, p > 0.05), peripheral venous thromboses (24% vs 0%, p > 0.05). In high fVIII activity cardiolipin antibodies occurred more rarely (24% vs 43%, p > 0.05) but lupus anticoagulant was seen more often (47% vs 14%, p > 0.05). High fVIII activity was in 8 of 12 aPL-negative patients. It is demonstrated that elevated fVIII activity is an essential mechanism of thrombosis development in SS. The cause of this enhanced activity is suggested to be special aPL in interaction with which fVIII becomes insensitive to inactivation with protein C. The activity of protein C was normal in all the cases.
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PMID:[Clotting factor VIII in Sneddon syndrome]. 1459 91


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