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)

Twenty-one patients of autoimmune hemolytic anemia (AIHA), aged 2 months to 57 years were analyzed. The common presenting feature was pallor (89%), fever (38%), Jaundice (43%) and hepatomegaly and splenomegaly was seen in 76% and 81% respectively. Fifteen cases were of idiopathic etiology and in 6 cases the etiology could be identified as systemic lupus erythematosus, systemic sclerosis, pregnancy, maternal AIHA, typhoid fever and myelodysplastic syndrome (one each). Hemoglobin level ranged between 1.9 to 11.7 gm/dl (mean 6.8 gm/dl) and reticulocyte counts between 6% to 42% (mean (20.2%). Four patients had thrombocytopenia. Direct antiglobulin test (DAT) was positive in 19 and indirect antiglobulin test (IAT) in 7 cases. There was no correlation between DAT positivity and severity of anemia. All patients had warm antibodies of IgG type. Ten of fourteen patients responded to steroid therapy. Patients with secondary AIHA had a significantly poorer prognosis compared to the idiopathic group.
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PMID:Clinico-hematological spectrum of auto-immune hemolytic anemia: an Indian experience. 1099 63

The Schnitzler syndrome is characterized by a chronic urticarial eruption with a monoclonal IgM gammopathy. The other signs of the syndrome include intermittent elevated fever, joint and/or bone pain with radiologic evidence of osteosclerosis, palpable lymph nodes, enlarged liver and/or spleen, elevated erythrocyte sedimentation rate, and leukocytosis. The mean delay to diagnosis is more than 5 years, and this syndrome is of concern to internists and many medical specialists. Patients with this syndrome are often initially considered to have lymphoma or adult-onset Still disease, which are the main differential diagnoses. However, hypocomplementic urticarial vasculitis, systemic lupus erythematosus, cryoglobulinemia, acquired C1 inhibitor deficiency, hyper IgD syndrome, chronic infantile neurologic cutaneous and articular (CINCA) syndrome, and Muckle-Wells syndrome should also be excluded, because diagnosis relies on a combination of clinical and biologic signs and there is no specific marker of the disease. The disease pursues a chronic course, and no remissions have yet been reported. Disabling skin rash, fever, and musculoskeletal involvement are the most frequent complications. Severe anemia of chronic disease is another serious complication. The most harmful complication, however, is evolution to an authentic lymphoplasmacytic malignancy, which occurs in at least 15% of patients. This hematologic transformation can occur more than 20 years after the first signs of the disease, thus patients deserve long-term follow-up. Treatment is symptomatic and unsatisfactory. The skin rash is unresponsive to treatment, and nonsteroidal antiinflammatory drugs, antihistamines, dapsone, colchicine, and psoralens and ultraviolet A (PUVA) therapy give inconstant results. Fever, arthralgia, and bone pain often respond to nonsteroidal antiinflammatory drugs. In some patients, these symptoms and/or the presence of severe inflammatory anemia require steroids and/or immunosuppressive treatment, which ameliorate inflammatory symptoms but do not change the course of the skin rash.
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PMID:The Schnitzler syndrome. Four new cases and review of the literature. 1120 1

Kikuchi-Fujimoto disease is a rare disease first described in 1972 by Kikuchi and Fujimoto et al. (1,2). Clinically the disease presents with lymphadenitis usually in the cervical region. Most reported cases of Kikuchi-Fujimoto disease have been of Asian origin. The cause is unknown and the condition is self-limiting. Some kind of viral or postviral etiology has been implicated. Bacterial and protozoal organisms as well as various other antigens, chemical, physical and neoplastic, have also been postulated. An association with systemic lupus erythematosus has also been shown. Lymphadenitis, hepatomegaly and splenomegaly as well as leukopenia, elevated erythrocyte sedimentation rate and hepatic abnormalities are common findings. Fever, malaise, fatigue, headache, night sweats, nausea, vomiting, weight loss, cutaneous manifestations, and even neurological symptoms are other complaints. Histologically the lymph nodes show partial involvement with patchy irregular areas of necrosis in the paracortical area with absence of neutrophils. We describe four cases of Kikuchi-Fujimoto disease observed in Greece. Their characteristics are discussed, whilst a review of the literature is attempted.
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PMID:Kikuchi-Fujimoto disease in Greece. A study of four cases and review of the literature. 1249 69

The individualized, retrospective study of 14 children with SLE (4-16 years) pointed out a series of clinical and age dependent evolutive characteristics. Below the age of 10 years old (lot 1:2 boys and 4 girls), SLE started as a prolonged fever syndrome (5-16 weeks) in the majority of cases; for 2 children the severe poliarthritis resistant to the AINS therapy is associated with the durable absence of the antinuclear seric antibody (ANA). For the same age group a high frequency of neurological manifestations (5/6 cases) was noticed. After the age of 10 years old (lot II: 8 girls) the symptoms incidence at debut is close to the one of the adult, the cutanat and renal manifestations in evolution were dominant (7/8 cases). The 7 months absence of ANA characterises a case that started with hepatomegaly, severe neurological and physiological manifestations and microscopic hematuria. The follow-up lasted until the age of 16 years old; the patients were clinically tested for severe renal complication. The correct application of the classical criteria of diagnostic (ARA, 1982), and in the last few years the application of the ponderat score (Mayer, 1998), allows us to establish an early diagnostic and a rapid evaluation of a relapse, therefore influencing the treatment.
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PMID:[Systemic lupus erythematosus in children. I: clinical and age dependent evolutive characteristics]. 1263 84

We report on the characteristics of 21 patients with hepatosplenic gammadelta T-cell lymphoma (HSgammadeltaTCL), an entity recognized since 1994 in the Revised European American Lymphoma (REAL) classification. Median age was 34 years. Patients had splenomegaly (n = 21), hepatomegaly (n = 15), and thrombocytopenia (n = 20). Histopathologic findings were homogeneous and showed the presence of medium-sized lymphoma cells within the sinusoids of splenic red pulp, liver, and bone marrow. Marrow involvement was usually mild but could be demonstrated by phenotyping in all patients. Cells were CD3+CD5-, expressed the gammadelta T-cell receptor, and had a nonactivated cytotoxic cell phenotype (TIA-1+, granzyme B-). Most patients were CD4-/CD8- (16 of 18); CD56+ (15 of 18), expressed the Vdelta1epitope (Vd1+/Vd2-/Vd3-) (9 of 12); and were negative for Epstein-Barr virus (EBV) (18 of 20). Isochromosome arm 7q was documented in 9 of 13 patients. Eight patients had previously undergone kidney transplantation or had a history of systemic lupus, Hodgkin disease, or malaria. Prognosis was poor; median survival time was 16 months, and all but 2 patients ultimately died despite consolidative or salvage high-dose therapy. In conclusion, HSgammadeltaTCL is a disease with distinctive clinical, histopathologic, and phenotypic characteristics. Bone marrow biopsy with combined phenotyping is sufficient for diagnosis, and splenectomy is therefore unwarranted. Current treatment modalities appear to be ineffective in most patients.
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PMID:Hepatosplenic gammadelta T-cell lymphoma is a rare clinicopathologic entity with poor outcome: report on a series of 21 patients. 1290 41

The case of a 42-year-old female with Budd-Chiari syndrome (BCS) and lupus anticoagulant is reported. This patient, who had been on chronic anticoagulants for her lupus anticoagulant, presented with abdominal pain, dyspnea on exertion, engorged abdominal wall venous collaterals, and hepatomegaly. A dynamic computerized tomography of the abdomen showed complete suprahepatic inferior vena caval occlusion at the junction with the right atrium. IVC venogram confirmed the diagnosis and also demonstrated patency of the hepatic veins. Free hepatic venous pressure was 25-26 mm Hg. Histopathologic examination of the liver showed marked central venous congestion with significant bridging fibrosis. The total caval occlusion and overt calcification of the clot precluded radiologic angioplasty, and the patient underwent a successful surgical thrombectomy with cavoplasty utilizing an autologous venous patch. Several weeks following surgery, she was free of symptoms and resumed her usual daily activities. Follow-up venography showed a widely opened cava with normal free hepatic vein pressures. Repeat liver biopsy at 6 months showed complete resolution of the hepatic venous congestion and a decrease in the degree of fibrosis.
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PMID:Suprahepatic Budd-Chiari syndrome treated with thrombectomy and cavoplasty. 1292 61

Kikuchi-Fujimoto disease (KFD), also know as histiocytic necrotizing lymphadenitis, is a benign disorder characterized histologically by necrotic foci surrounded by histiocytic aggregates, and with the absence of neutrophils. KFD was recognized in Japan, where it was first described in 1972. The disease is most commonly affecting young women. The cause of the disease is unknown, and its exact pathogenesis has not yet been clarified. Many investigators have postulated viral etiology of KFD, connecting it with Epstein Barr virus, human herpes simplex virus 6 parvo B 19, but also with toxoplasmic infection. Kikuchi-Fujimoto disease is usually manifested with lymphadenopathy and high fever, and is associated with lymphopenia, splenomegaly, and hepatomegaly with abnormal liver function tests, arthralgia, and weight loss. The disease has the tendency of spontaneous remission, with mean duration of three months. Single recurrent episodes of KFD have been reported with many years' pauses between the episodes. Kikuchi-Fujimoto disease may reflect systemic lupus erythematosus (SLE), and self-limited SLE-like conditions. Final diagnosis could only be established on the basis of typical morphological changes in the lymph node, and lymph node biopsy is needed for establishing the diagnosis. Lymphadenopathy in a patient with fever of the unknown origin could provide a clue to the diagnosis of lymphoma, tuberculosis, metastatic carcinoma, toxoplasmosis and infectious mononucleosis. As KFD does not have any classical clinical features and laboratory characteristics, it may lead to diagnostic confusion and erroneous treatment. We described a case of KFD, and suggested that this disease should be considered as a possible cause of fever of the unknown origin with lymphadenopathy.
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PMID:[Kikuchi-Fujimoto disease]. 1460 43

In this Grand Round we present a 32-yr-old African man who became severely ill after a 5-month history of weight loss, pyrexia, arthralgia, sweats and rash. He went on to develop pericarditis, pericardial effusion with tamponade, hepatomegaly with abnormal liver function tests, lymphadenopathy, massive proteinuria and required ventilatory, circulatory and renal support. The differential diagnosis was adult onset Still's disease, systemic lupus erythematosus (SLE), infection and lymphoma. Primary infection and lymphoma were excluded and he was treated, with dramatic success, with intravenous immunoglobulins (i.v.IG). Subsequent renal biopsy excluded SLE but confirmed collapsing glomerulopathy. The proteinuria improved dramatically following treatment with mycophenolate mofetil. We discuss some of the difficult diagnostic and management issues raised by this patient and the different uses and mechanisms of action of i.v.IG.
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PMID:Adult onset Still's disease and collapsing glomerulopathy: successful treatment with intravenous immunoglobulins and mycophenolate mofetil. 1503 97

We report the case of a 41-year-old woman, affected by Vaquez syndrome, admitted to our hospital for a severe pain in the right hypochondrium, suddenly followed by hepatomegaly and ascites. The clinical and laboratory data were suggestive of hepatic insufficiency and abdominal ultrasonography, integrated by color Doppler and computed tomography, revealed an interrupted hepatic venous outflow. In addition a spontaneous prolonged partial thromboplastin time was present and the patient was found to be positive for lupus anticoagulant. A transient clinical improvement, with a partial reperfusion of suprahepatic veins, was achieved with medical treatment by using anticoagulants, diuretics and paracentesis. However, the patient showed a subsequence of suprahepatic venous thrombosis, although two transjugular intrahepatic portosystemic shunts with stent placement and local thrombolysis were performed. The polycythemia vera is a disease mainly associated with Budd-Chiari syndrome but, in our patient, the thrombotic event occurred in spite of normal values of hematocrit and platelet count. Certainly in this case the lupus anticoagulant positivity represents an additional thrombogenic factor. Nowadays the antiphospholipid antibody syndrome is a recognized and not unusual cause of Budd-Chiari syndrome but, to our knowledge, this is the first case characterized by the presence of polycythemia vera and antiphospholipid antibody syndrome to be reported.
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PMID:[Budd-Chiari syndrome with fatal outcome in a patient with polycythemia vera and antiphospholipid antibody syndrome]. 1552 39

Systemic lupus erythematosus (SLE) is a rheumatologic disease characterized by an inflammatory destruction of the target organ systems of the body in an unknown way by autoantibodies formed against self-antigens. Infectious agents like Epstein-Barr virus (EBV), cytomegalovirus and parvovirus B19 may have a role in the occurrence or the exacerbation of the SLE. In this report, the clinical follow-up of a 14-year-old girl diagnosed with SLE following an EBV infection with bicytopenia, lymphadenomegaly and hepatomegaly is discussed. This case could support the role of viral infections in the etiology of SLE.
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PMID:Systemic lupus erythematosus due to Epstein-Barr virus or Epstein-Barr virus infection provocating acute exacerbation of systemic lupus erythematosus? 1620 Mar 98


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