Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several classifications have been proposed for erythermalgia according to causality (primary or secondary) or age of onset (presuming that all early-onset are primary). Recently a classification in three types of erythromelalgia have been proposed. Erythromelalgia and erythermalgia are defined as two independent and completely different disease entities. Clinically there are three different types of recurrent red, warm and burning pain in the extremities. That need to be distinguished for effective treatment according to their etiology: erythromelalgia in thrombocythaemia, primary erythermalgia and secondary erythermalgia. We recently observed 19 cases of erythermalgia; nine had primary erythermalgia; in 6 of 9, symptoms were relieved with aspirin. Ten of them had a secondary erythermalgia: 5 due to myeloproliferative disorders (erythromelalgia), 2 systemic lupus erythematosus and 3 to drugs. We used a two-level classification with a first level of primary or secondary erythermalgia, and a second level for primary erythermalgia, of familial or nonfamilial primary and for secondary erythermalgia, of thrombocythaemia disorders or other.
 ...
PMID:[Classification of erythermalgia]. 875 86

We report three cases of erythermalgia associated with systemic lupus erythematosus corresponding to different clinical situations in such an association. The first patient developed erythermalgia during the course of systemic lupus erythematosus. In the second, erythermalgia preceded other symptoms of systemic lupus erythematosus by four years. In the third, erythromelalgia was not related to a flare-up of systemic lupus erythematosus, but to thrombocythemia, a complication of immunosuppressive therapy. These cases permit a discussion on terminology and classification of erythromelalgia and erythermalgia. However, more than terminology or classification into three types or into adult-onset and early-onset (childhood) erythromelalgia, the important is to consider primary and secondary forms. We used a classification into two types: primary (or erythermalgia) with subdivision into sporadic and familial subtypes, and secondary with subdivision into erythermalgia related to myeloproliferative disorders and erythermalgia related to other diseases, such as systemic lupus erythematosus, or to drugs (erythermalgia-like syndrome).
 ...
PMID:[Erythermalgia and systemic lupus erythematosus]. 875 88

The presence of serum antiphospholipid antibodies is associated with arterial and venous thrombosis. We report two cases of portal vein thrombosis associated with serum antiphospholipid antibodies. In our two patients, systemic lupus erythematosus, chronic liver disease, hepatocellular carcinoma, myeloproliferative disorders and coagulation inhibitor deficiency were excluded after extensive tests were performed to diagnose portal vein thrombosis and after a follow-up period of 6 and 7 years, respectively. The test for serum antiphospholipid antibodies was positive on two occasions in both patients. Both patients were treated with endoscopic sclerotherapy for bleeding esophageal varices and with long term anticoagulant therapy for the prevention of recurrent thrombosis. These two cases suggest that serum antiphospholipid antibodies should be investigated in patients with portal vein thrombosis of unexplained etiology.
 ...
PMID:[Portal thrombosis disclosing antiphospholipid syndrome. 2 cases]. 899 Nov 50

Budd-Chiari syndrome is characterized by hepatic venous outflow obstruction. Although myeloproliferative disorders are usually responsible for this severe thrombotic disorder, deficiency or dysfunction of the natural anticoagulants can be involved. Resistance to activated protein C caused by factor V Leiden mutation has been recently identified as a major cause of thrombophilia. We report 6 patients with Budd-Chiari syndrome associated with factor V Leiden mutation combined with another acquired thrombophilic state (myeloproliferative disorder and lupus anticoagulant in 3 cases) and without another thrombophilic disorder in the other 3 cases. We conclude that factor V Leiden mutation should be evaluated in any case of hepatic vein occlusion because the prevalence of this mutation in the general population is high.
 ...
PMID:Budd-Chiari syndrome associated with factor V leiden mutation: a report of 6 patients. 1007 47

We identified 3 patients with autoimmune myelofibrosis (AM) lacking American Rheumatism Association criteria for systemic lupus erythematosus (SLE). They had 1 or 2 cytopenias and lacked serologic evidence for SLE. Autoimmune features included psoriatic arthritis and positive direct Coombs test (DCT) result, DCT-positive autoimmune hemolytic anemia, and synovitis with polyclonal hypergammaglobulinemia. Bone marrow biopsy specimens from each patient were evaluated by routine morphologic and immunohistochemical examination. They demonstrated marked hypercellularity (2 cases) or hypocellularity (1 case), moderate erythroid hyperplasia (all cases) with left-shifted maturation (2 cases), intrasinusoidal hematopoiesis (all cases), slightly to moderately increased megakaryocytes (2 cases), and grade 3 to 4 reticulin fibrosis (all cases). All lacked basophilia, eosinophilia, bizarre megakaryocytes, clusters of megakaryocytes, and osteosclerosis. Mild to moderate bone marrow lymphocytosis was noted in all cases. In 2 cases, increased small T cells and B cells formed nonparatrabecular, loose aggregates. AM is a clinicopathologic entity that may lack features of SLE. Loose aggregates of bone marrow T and B lymphocytes and the absence of morphologic and clinical features of myeloproliferative disease or low-grade lymphoproliferative disease are clues that distinguish AM from better known causes of bone marrow fibrosis.
 ...
PMID:Pathology of autoimmune myelofibrosis. A report of three cases and a review of the literature. 1148 67

Portal vein thrombosis is a rare occurrence, and often an underlying hypercoagulable state can be found. Recently, there has been growing interest and recognition of the antiphospholipid syndrome in association with acquired hypercoagulable state. This syndrome consists of the association of lupus anticoagulant or antiphospholipid antibodies with arterial or venous thrombosis, thrombocytopenia, and spontaneous abortion. We report a case of portal vein thrombosis associated with the antiphospholipid syndrome. In our patient, chronic liver disease, hepatobiliary infection, abdominal malignancies, myeloproliferative disorders, and inherited coagulation disorders were excluded. This case report suggests that serum antiphospholipid antibodies should be investigated in patients with portal vein thrombosis of unexplained etiology.
 ...
PMID:Portal vein thrombosis associated with antiphospholipid syndrome. 1151 39

Acquired von Willebrand syndrome (AVWS) associated with hypothyroidism is of type I, results from a decreased synthesis of factor VIII and von Willebrand factor (VWF), responds to desmopressin with normal half-life times for factor VIII and VWF parameters, and disappears after treatment with I-thyroxine. AVWS type I or III, which occurs in a minority of patients with Wilms' tumour in the complete absence of an inhibitor against VWF and no absorption of factor VIII or VWF onto nephroblastoma cells, responds to chemotherapy and/or tumour resection. Hyaluronic acid produced by nephroblastoma cells may be the causative factor in atypical AVWS in Wilms' tumour. AVWS associated with thrombocythaemia of various myeloproliferative disorders is characterized by normal factor VIII and von Willebrand factor antigen (VWF: Ag) levels and a selective deficiency of functional ristocetin co-factor activity (VWF: RCo) and collagen-binding activity (VWF: CBA). AVWS type II in thrombocythaemia is caused by a platelet-dependent proteolysis of large VWF multimers, given the inverse relationship between platelet count and large VWF multimers in plasma and specific increases in the number of proteolytic VWF fragments in plasma. The laboratory findings of AVWS associated with systemic lupus erythematosus or IgG benign monoclonal gammopathy are characterized by a prolonged bleeding time and activated partial thromboplastin time, decreased or absent ristocetin-induced platelet activity, low to very low levels of factor VIII coagulant activity (mean 15%), VWF: Ag (mean 10.7%) and VWF: RCo (mean 6.2%), and a type II multimeric pattern of VWF. Neutralizing and non-neutralizing anti-VWF autoantibodies, usually IgG, have been detected in patient plasma either free or tightly bound to the intermediate and high molecular weight VWF factor VIII particles. The bound auto antibody-antigen complex is rapidly cleared from the circulation, resulting in low levels of factor VIII, VWF parameters as documented by a poor response to desmopressin and VWF factor VIII concentrate. High-dose intravenous immunoglobulin transiently corrects the factor VIII coagulant and VWF levels, lasting for a few weeks in AVWS type II associated with systemic lupus erythematosus or IgG benign monoclonal gammopathy. Prednisolone is effective in AVWS associated with autoimmune disorder. Prednisolone and chemotherapy will not affect AVWS associated with IgG benign monoclonal gammopathy because the monoclonal IgG protein remains to act as an anti-VWF autoantibody. An absorption of VWF to malignant cells has been documented in a few patients with various lymphoproliferative disorders or adrenal carcinoma and suggested to result in a depletion of VWF. The clinical picture of AVWS associated with early-stage IgG multiple myeloma, chronic lymphocytic leukaemia or non-Hodgkin's lymphoma without a paraprotein or no detectable underlying disorder is similar to that of AVWS type II in IgG benign monoclonal gammopathy but poorly documented with regard to the underlying immune mechanism of AVWS. The mechanical destruction of large VWF multimers may be of relevance in conditions in which the shear rate of flowing blood is increased, as may occur in cases of aortic stenosis, other heart valve defects or stenosed vessels. Drug-induced AVWS has been described in association with the use of pesticides valproic acid, ciprofloxacin, griseofulvin, tetracycline, thrombolytic agents and hydroxyethyl starch.
 ...
PMID:Acquired von Willebrand syndromes: clinical features, aetiology, pathophysiology, classification and management. 1168 7

Hypocholesterolemia has been observed in several inflammatory diseases such as rheumatoid arthritis, myeloproliferative disorders, systemic lupus erythematosus and sarcoidosis. Serum amyloid A is an acute-phase reactant that is related to the high-density lipoprotein cholesterol. This review discusses the relationship between the activation of the cells of the monocyte-macrophage system, determined by the serum amyloid A levels, and the lipid metabolism, measured as alterations in plasma lipoprotein concentrations. The mechanisms of this association during acute inflammation are also discussed in this review.
 ...
PMID:Serum amyloid A and high-density lipoprotein cholesterol: serum markers of inflammation in sarcoidosis and other systemic disorders. 1190 94

Hereditary prothrombotic states of clinical importance include factor V Leiden, the prothrombin 20210A mutation, deficiencies of protein C, protein S, or antithrombin, sickle cell disease, and hyperhomocysteinemia. Major acquired prothrombotic states include cancer, myeloproliferative disorders, the antiphospholipid syndrome, and heparin-induced thrombocytopenia. Because most of the hereditary prothrombic states are not established risk factors for arterial thrombosis, routine laboratory testing in most patients with ischemic stroke should be limited to complete blood count, lupus anticoagulant, anticardiolipin antibodies, and plasma total homocysteine. Additional testing for factor V Leiden, prothrombin 20210A, antithrombin, protein C, and protein S may be indicated for patients under the age of 50 or those with paradoxical cerebral embolism. The treatment of acute ischemic stroke in patients with prothrombotic states is similar to that in patients without an identifiable prothrombotic condition, and may include antiplatelet agents, anticoagulants, or thrombolytic therapy in patients who otherwise meet eligibility criteria. The potential benefit of chronic anticoagulation therapy for the primary or secondary prevention of stroke in patients with prothrombotic states has not been addressed in controlled clinical trials. Specific therapeutic approaches for the prevention of stroke are established for patients with sickle cell disease, myeloproliferative disorders, and heparin-induced thrombocytopenia, and are under investigation for hyperhomocysteinemia and the antiphospholipid syndrome.
 ...
PMID:Prothrombotic States that Predispose to Stroke. 1235 68

Myelofibrosis is characterized by reticulin fibrosis of the bone marrow with resulting features of myelophthisis. Besides hematopoietic malignancies and other neoplasms involving the bone marrow, myelofibrosis has been described in association with autoimmune disorders, especially systemic lupus erythematosus. We describe the clinicopathologic features of a primary form of autoimmune myelofibrosis (AIMF) in patients who do not have systemic lupus erythematosus or another well-defined autoimmune syndrome. Absence of marked splenomegaly, peripheral blood cytopenias with mild teardrop poikilocytosis and leukoerythroblastosis, bone marrow lymphoid aggregates, and presence of autoantibodies are some of the salient features of primary AIMF. AIMF should especially be differentiated from chronic idiopathic myelofibrosis, a neoplastic myeloproliferative disease. Primary AIMF appears to have an excellent prognosis, with all patients reported in this series responding to a short course of corticosteroid therapy.
 ...
PMID:Primary autoimmune myelofibrosis: definition of a distinct clinicopathologic syndrome. 1250 61


<< Previous 1 2 3 Next >>