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 clinical consequences (therapeutic and toxic) of drug acetylation polymorphism are reviewed for procainamide, hydralazine, phenelzine, isoniazid, and salicylazosulfapyridine. Genetic slow acetylators are more likely than rapid acetylators to experience the following adverse drug reactions: (1) earlier development of procainamide-induced antinuclear antibody; (2) earlier and more frequent development of procainamide-induced systemic lupus erythematosus (SLE); (3) hydralazine-induced SLE; (4) spontaneous SLE; (5) drowsiness and nausea from phenelzine; (6) cyanosis, hemolysis, and transient reticulocytosis from salicylazosulfapyridine; and (7) polyneuropathy after isoniazid therapy. The incidence of isoniazid hepatitis may, however, be more common in rapid than than in slow acetylators. Genetic slow acetylators are also more likely than rapid acetylators to experience greater therapeutic responses from similar doses of the following: phenelzine, hydralazine provided beta blockers are concurrently used, and isoniazid if once weekly therapy is used. Thus, knowledge of the acetylator phenotype of a patient can help determine the relative risk for some drug-related toxic and therapeutic responses.
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PMID:Clinical consequences of polymorphic acetylation of basic drugs. 1 87

We experienced a case of idiopathic hypereosinophilic syndrome (HES) associated with pulmonary infarction. The case was a 22-year-old woman with marked eosinophilia (16835/microliters) and peripheral edema and cyanosis. During hospitalization, she suddenly developed lower right chest pain, and infiltrative lesions with pleural effusions in the right lung were prominent. A diagnosis of pulmonary infarction was made after perfusion scan and angiography of the lung. Lupus anticoagulant was found to be positive and a transient increase of anti-cardiolipin antibody slightly in her serum was also observed. Recurrent thrombosis is known to be complicated by HES but its mechanism remains to be clarified. There has also been no study reported in the literature on the role of lupus anticoagulant in this process; its possible role in this patient is discussed.
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PMID:[A case of idiopathic hypereosinophilic syndrome (HES) complicated by pulmonary infarction]. 195 37

A 76-year-old man was admitted to our hospital in December of 1990, for investigation of progressive dyspnea on exertion over the previous 3 months. Physical examination revealed cyanosis, but no edema. Cardiomegaly was seen on chest X-ray, and findings compatible with right-sided congestive heart failure were revealed by ECG and echocardiography. Lung perfusion scintigrams showed multiple defects in both lungs, but no abnormal findings were detected on a ventilation study. Venograms of the lower extremities disclosed thrombosis of the right femoral vein. Therefore, a diagnosis of recurrent pulmonary thromboembolism was made. Furthermore, lupus anticoagulant and IgG-class anticardiolipin antibody were noted in the serum. The patient was treated with intravenous heparin, long-term warfarin, and transvenous placement of a Greenfield filter in the inferior vena cava. The clinical symptoms and signs improved, and no recurrence has been seen during the 13 months since the onset. On discharge, both antiphospholipid antibodies were negative. This case of primary antiphospholipid syndrome without autoimmune disease, with transiently positive antibodies only in the exacerbation phase, is discussed herein.
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PMID:[A case of recurrent pulmonary thromboembolism presenting with positive antiphospholipid antibodies]. 796 48

A 40-year-old woman had complained of cyanosis induced by cold exposure from the age of 26. When she was 32 years old, Raynaud's phenomenon occurred. She developed diffuse cutaneous sclerosis affecting the upper limbs, face and trunk, digital pitting scar, flexion contractures of hands, dilatation of lower esophagus and pulmonary fibrosis, and she was diagnosed as scleroderma. Laboratory findings revealed positive anti-topoisomerase I antibody and hypergammaglobulinemia (IgG 2,782, IgA 632, IgM 146 mg/dl). However, serum complement levels were normal and anti-DNA antibodies measured by radioimmunoassay (RIA) were negative. Initial dose of oral prednisolone was 30 mg/day and afterwards 5 mg/day of prednisolone was maintained. At the age of 36, scleroderma and contraction of hands were progressed, and telangiectasias appeared on her chest at the age of 36. Laboratory tests revealed hypocomplementemia (C3 27, C4 9 mg/dl, CH50 16 U/ml) and high titers, more than 100 U/ml, of anti-DNA antibodies measured by RIA. Clinical evidence suggestive of SLE could not be found. Reexamination of previous sera by enzyme immunoassay, in which anti-DNA antibody could not be detected by RIA, clarified the presence of IgG anti-dsDNA antibodies. It was considered that there existed low avidity/affinity of anti-dsDNA antibodies at first, and afterwards high avidity/affinity of anti-dsDNA antibodies appeared. Increasing of oral prednisolone up to 30 mg/day normalized serum complements and decreased titers of anti-DNA antibodies. She had not developed any clinical evidence that suspected SLE throughout the course.
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PMID:[A case report of typical scleroderma accompanied with serum abnormalities characteristic of SLE during the course]. 912 20

Systemic lupus erythematodes is a disease commonly associated with peripheric circulation disturbances. The goal of the study was the evaluation of the role of the following nuclear antibodies: anti-Ro (SS-A), anti-La (SS-B) and anti-Sm in the endothelium damage process in the SLE patients with symptoms of microcirculation disturbances. The concentration of plasma thrombomodulin was used as a marker of the endothelium destructive changes intensity. Twenty-four patients with SLE (22 women and 2 man) aged of 18-57 (the average age 40.50 +/- 9.72 years) in which occurred: the Raynauds symptom (16 patients), fingers cyanosis (5 patients) and fingers and/or toes necrosis (3 patients) were investigated. Antinuclear antibodies and thrombomodulin level was estimated with the ELISA method. In all patients, the concentration of anticardiolipin antibodies in serum was determined (ELISA-method, cardiolipin was used as an antigenes, Sigma USA). Higher titers of ANA antibodies in 83%, anti-SM antibodies in 30%, anti-Ro in 42% and anti-La in 42%, examined patients and higher titer of anti-Ro and anti-La antibodies together in 29% of examined patients were stated. Statistical significant correlation between the increased level of thrombomodulin and anti-La antibodies concentrations in serum of patients with the disease lasting over 6 years was found out. The significant statistical correlation of thrombomodulin concentration increasing and anti-La antibodies in serum was proved. The dynamism of limbs circulation disorders depends on the disease duration.
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PMID:[Endothelial response for the presence of chosen antinuclear antibodies, anti-Ro (SS-A) and anti-La (SS-B) and anti-Sm in vasculitis against the background of existing lupus erythematosus]. 1107 29

Antiphospholipid antibodies are a heterogeneous family of immunoglobulins that includes lupus anticoagulant and anticardiolipin antibodies. They are strongly associated with a clinical syndrome characterized by venous and arterial thrombosis and spontaneous fetal losses. This syndrome may be primary or else secondary to autoimmune or neoplastic diseases. The cardiovascular system is frequently involved with mitral or aortic insufficiency, juvenile myocardial infarction, and primitive pulmonary hypertension. However, the occurrence of intracardiac thrombi is rare. We describe a case of an intracardiac right atrial thrombus in a 19-year-old asymptomatic woman who was admitted in December 1998 to the Thrombosis Center owing to the finding, during routine work-up, of a prolonged activated partial thromboplastin time (71 s) and thrombocytopenia (71 x 1000/mm3), a positive antinuclear antibody test (1/320), positivity for lupus anticoagulant, and increased IgG (92 GPL-U/ml) and IgM (27 MPL-U/ml) anticardiolipin antibodies. Six months later, the patient presented with headache, edema and cyanosis of the face and jugular swelling. Transthoracic and transesophageal echocardiography revealed a right atrial mass which was clearly distinguishable from the tricuspid valve and extended to the superior vena cava. The patient was successfully submitted to surgical excision of the thrombus. Histology revealed that the mass was adherent to an abnormal septum consisting of mesenchymal tissue. Although the American Rheumatology Association criteria for the diagnosis of systemic lupus erythematosus were not fulfilled, the positivity of antinuclear antibody test is in favor of a lupus-like syndrome. The decision to opt for surgical excision of the thrombus was determined by the unclear nature of the atrial mass. It may be necessary that such patients be submitted to anticoagulant therapy for the rest of their lives or temporarily (6-12 months). This underscores the importance of the anatomical abnormality as a promoting factor. Transthoracic echocardiography (as well as transesophageal echocardiography in selected cases) must be considered as an essential component of the initial diagnostic work-up in patients presenting with antiphospholipid antibodies.
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PMID:[Left atrial thrombosis in patients with antiphospholipid antibody syndrome and mesenchymal abnormal septum]. 1172 15

A 31-year-old man who underwent chemotherapy and bone marrow transplantation to treat acute myeloblastic leukemia was admitted to our department complaining of high fever and hypotension. His physical examination revealed warm shock state, eruptions resembling that seen in systemic lupus erythematosus on his face and cyanosis in his fingers. We diagnosed septic shock and idiopathic skin eruption on his face. Following treatment with blood transfusion, anticoagulant, antibiotics, respirator and continuous arteriovenous hemofiltration and dialysis, the patient's condition gradually improved. The eruptions on his face first observed at admission progressed with a worsening of his disseminated intravascular coagulation (DIC), and subsided with an improvement in his DIC. A biopsy of the eruption was taken and pathological findings of the eruption revealed multiple micro-fibrin depositions of the dermis. The skin necrosis in purpura fulminans often begins in the distal extremities. But our patient developed this uncommon skin eruption on his face. Patients with an idiopathic skin eruption resembling a butterfly rash in a septic patient should be considered to complicate DIC as in the present case.
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PMID:An idiopathic skin eruption resembling a butterfly rash in a septic patient with disseminated intravascular coagulation following bone marrow transplantation. 1506 Apr 23

Pernio, or chilblains, is a localized inflammatory lesion of the skin resulting from an abnormal response to cold. Five cases were seen among adolescent female patients who presented to our rheumatology service in a pediatric tertiary care center in the winter of 2003 to 2004. All 5 patients were thin (BMI of <25th percentile) and had either toes or fingers that were affected. For each, laboratory evaluation results were unremarkable, including negative antinuclear antibody profile results. Symptomatic treatment, with or without medication, was recommended. Pernio most commonly occurs among young women but may occur among older individuals or among children. Because pernio develops among susceptible individuals who are exposed to nonfreezing cold, the lesions usually begin in the fall or winter and disappear in the spring or early summer. Acute pernio may develop 12 to 24 hours after exposure to the cold. Single or multiple erythematous, purplish, edematous lesions appear, accompanied by intense pain, itching, or burning. Chronic pernio occurs with repeated exposure to the cold and the persistence of lesions. In an acute exacerbation, the major differential diagnosis alternative would be Raynaud's phenomenon, which consists of sharply demarcated cutaneous pallor and cyanosis, followed by erythema, of far shorter duration (hours rather than days). Frostbite is freezing of tissue, with resultant tissue necrosis. Several conditions have been described as predisposing subjects to pernio, including the presence of cryoproteins, excessive cold exposure, and anorexia nervosa among children and systemic lupus erythematosus and antiphospholipid antibodies among adults. It is important, therefore, when evaluating a patient with pernio, both to exclude an underlying diagnosis and to determine whether additional testing is necessary. The lesions of acute pernio are usually self-limited but may lead to recurrent disease. The involved limb should be cleaned and dried, and rewarming should occur. Prevention is the best form of therapy, and cold exposure should be minimized after an initial insult. The prognosis for properly treated pernio is excellent. Nifedipine, which produces vasodilation, has been demonstrated to be effective in reducing pain, facilitating healing, and preventing new lesions of pernio. We think that the 5 cases seen in our rheumatology clinic represent an increase, compared with prior years; the dermatology clinic at the University of Colorado reported a series of 8 children treated during a 10-year period. The reasons for the possible increase are likely multifactorial, with cold climate, a vulnerable population with thin body habitus, and cold exposure all being contributing causes. Of note, the quality of cold in Colorado is quite dry; however, the winter of 2003 to 2004 was not particularly colder or drier than prior years. All patients were very thin, and thin body habitus may be associated with increased cutaneous vasoreactivity. It is also unclear how these cases of pernio may reflect that winter's fashion trends (2 patients reported wearing sandals in winter). General pediatricians, particularly those who practice in colder climates, should be aware of the presentation and treatment of pernio in childhood.
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PMID:Pernio in pediatrics. 1614 Jun 94

Raynaud's phenomenon is a common disorder with vasospasm of the digital arteries causing pallor with cyanosis and/or rubor. It can be primary (idiopathic), where it is not associated with other diseases, or secondary to several diseases or conditions, including connective tissue diseases, such as scleroderma and systemic lupus erythematosus. Raynaud's is often mild enough to not require treatment; however, with secondary Raynaud's there is not only vasospasm but also fixed blood vessel defects so the ischaemia can be more severe. Complications can include digital ulcers and could, rarely, lead to amputation. Treatment is often non-pharmacological including avoiding cold and smoking cessation. Calcium channel antagonists, such as nifedipine, are often considered when treatment is needed; however, adverse effects of these drugs can include hypotension, vasodilatation, peripheral oedema and headaches. Other treatments have been studied in randomised, controlled trials including classes of drugs, such as angiotensin II inhibitors, selective serotonin reuptake inhibitors, phosphodiesterase-5 inhibitors (e.g. sildenafil), nitrates (topical or oral; the latter can be limited by adverse effects, such as flushing, headache and hypotension), and for more serious Raynaud's or its complications prostacyclin agonists may be used. There are two large studies that demonstrate that endothelin receptor blockade with bosentan can reduce the number of new digital ulcers in scleroderma patients. However, it does not affect the healing period. Thus, Raynaud's is common and often requires non-pharmacological treatment. When secondary Raynaud's is suspected, such as Raynaud's with an older age at onset or other features of connective tissue disease, then an appropriate history, physical examination and laboratory tests may be indicated to reach an appropriate diagnosis. There have been advances in pharmacological treatment, but some of the treatments are limited by adverse effects.
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PMID:The diagnosis and treatment of Raynaud's phenomenon: a practical approach. 1735 12

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disorder. The initial manifestation complicating any organ system either singly or in combination is protean. Herein we report a 26-year-old female patient with fresh SLE whose initial manifestation was central cyanosis caused by severe pulmonary hypertension and acute pericarditis. The symptoms were relieved dramatically after treatment with steroid and bosentan. Accurate and timely diagnosis in SLE-associated pulmonary hypertension may be life saving.
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PMID:Central cyanosis due to severe pulmonary hypertension combined with pericarditis as the initial manifestation of systemic lupus erythematosus. 1827 23


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