Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034065 (pulmonary embolism)
 14,979 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several disorders of coagulation and fibrinolysis have been widely reported in patients with hyperthyroidism. Most reports have focused on only the venous thromboembolism risk, and few of them have studied specifically the association between hyperthyroidism and pulmonary embolism (PE). We report two cases of Graves' disease complicated by PE. The first patient is a 32 year-old man, and the second patient is a 23-year-old female. PE was suspected on the basis of pulmonary hypertension in patient one, and clinical presentation in the other patient. The first patient had also right heart failure. PE was confirmed in both patients by a lung perfusion-ventilation scan test. Thrombophilia screen revealed normal findings in the first patient and an elevation in coagulation factor VIII in the second one. Both patients received heparin, followed by oral anticoagulant therapy. In addition, they were treated with radioactive iodine resulting in partial recovery from hyperthyroidismforpatient oneand clinical euthyroidism for patient two. The former died of acute heart failure secondary to a chest infection, while the later was lost to follow-up. In conclusion, hyperthyroidism is associated with increased risk of venous thromboembolism, including PE. Potential mechanisms involved in this association include endothelial dysfunction, decreased fibrinolytic activity, and increased coagulation factors levels. Thyroid evaluation is recommended in patients with unprovoked venous thromboembolic events. Conversely, the diagnosis of venous thromboembolism should be considered in patients with hyperthyroidism, particularly if additional prothrombotic risk factors are present.
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PMID:Hyperthyroidism: A rare cause of pulmonary embolism: Report of two cases. 2438 93

The development of venous thromboembolism (VTE), which includes deep-vein thrombosis and pulmonary embolism, may be associated with inherited or acquired risk factors that can be measured in plasma or DNA testing. The main inherited thrombophilias include the plasma deficiencies of the natural anticoagulants antithrombin, protein C and S; the gain-of-function mutations factor V Leiden and prothrombin G20210A; some dysfibrinogenaemias and high plasma levels of coagulation factor VIII. Besides these established biomarkers, which usually represent the first-level laboratory tests for thrombophilia screening, a number of additional abnormalities have been less consistently associated with an increased VTE risk. These uncertain causes of thrombophilias will be discussed in this narrative review, focusing on their clinical impact and the underlying pathogenetic mechanisms. Currently, there is insufficient ground to recommend their inclusion within the framework of conventional thrombophilia testing.
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PMID:Uncertain thrombophilia markers. 2627 Dec 70

Chronic thromboembolic pulmonary hypertension (CTEPH) is a late sequel of venous thromboembolism that cannot be completely reproduced in animal models. The prevalence of CTEPH in humans is estimated at roughly 17-20 per million; however, partly because up to 50% of patients with CTEPH never experience symptomatic pulmonary embolism, precise numbers on the incidence and prevalence are not known. Because CTEPH is diagnosed at a median age of 63 years in patients who often have other concomitant cardiovascular disease or lung disease, assessment of pathophysiology in patients can be challenging, We do know that CTEPH is a dual vascular disorder. Stenoses, webs, and occlusions predominate in large and medium-sized pulmonary arteries at the sites of previous pulmonary emboli. A "secondary vasculopathy" resembling the pulmonary arteriopathy encountered in other forms of pulmonary hypertension predominates in low-resistance vessels. Anastomoses between bronchial artery branches and precapillary pulmonary arterioles appear during evolution of the disease. Other acquired vascular connections between bronchial arteries and pulmonary veins may trigger venous remodeling. Current concepts regarding the pathophysiology of CTEPH include contributions of hyperactive coagulation (e.g., high coagulation factor VIII, combined coagulation defects, dysfibrinogenemias), insufficient anticoagulation, non-O blood groups, and misguided thrombus resolution (e.g., infection, inflammation, dysfunctional innate immunity, abnormal circulating phospholipids). Current research focuses on the question as to whether a genetic predisposition leads to misguided vascular healing after pulmonary thromboembolism in susceptible individuals.
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PMID:The Pathobiology of Chronic Thromboembolic Pulmonary Hypertension. 2757 Oct 3

Deep vein thrombosis and pulmonary embolism, collectively defined as venous thromboembolism (VTE), are the third leading cause of cardiovascular death in the United States. Common genetic variants conferring increased varying degrees of VTE risk have been identified by genome-wide association studies (GWAS). Rare mutations in the anticoagulant genes PROC, PROS1 and SERPINC1 result in perinatal lethal thrombosis in homozygotes and markedly increased VTE risk in heterozygotes. However, currently described VTE variants account for an insufficient portion of risk to be routinely used for clinical decision making. To identify new rare VTE risk variants, we performed a whole-exome study of 393 individuals with unprovoked VTE and 6114 controls. This study identified 4 genes harboring an excess number of rare damaging variants in patients with VTE: PROS1, STAB2, PROC, and SERPINC1. At STAB2, 7.8% of VTE cases and 2.4% of controls had a qualifying rare variant. In cell culture, VTE-associated variants of STAB2 had a reduced surface expression compared with reference STAB2. Common variants in STAB2 have been previously associated with plasma von Willebrand factor and coagulation factor VIII levels in GWAS, suggesting that haploinsufficiency of stabilin-2 may increase VTE risk through elevated levels of these procoagulants. In an independent cohort, we found higher von Willebrand factor levels and equivalent propeptide levels in individuals with rare STAB2 variants compared with controls. Taken together, this study demonstrates the utility of gene-based collapsing analyses to identify loci harboring an excess of rare variants with functional connections to a complex thrombotic disease.
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PMID:Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease. 3245 82

Venous thromboembolism (VTE) is a serious clinical condition which early and accurate diagnosis may contribute to the reduction of associated morbidity and mortality. VTE occurs when a blood clot (thrombus) blocks the vein blood flow causing deep vein thrombosis (DVT) and, when it migrates to the lungs, it may clog the pulmonary arteries characterizing pulmonary embolism (PE). Analysis using fibrin degradation products or D-dimer and coagulation factor VIII may assist early diagnosis of VTE. Thus, two immunosensors were built using layer-by-layer (LbL) films technique, one containing the anti-D-dimer immobilized on polyethylene imine (PEI) and another the anti-FVIII on silk fibroin (SF). Immunosensor response, the antigen-antibody specific interaction, was investigated using cyclic voltammetry. When immunosensors, PEI/anti-D-dimer and SF/anti-FVIII, were exposed to antigens, D-dimer and Factor VIII, the voltammograms area and current were significantly increased with increasing specific antigen concentration. The specific interaction was confirmed with control experiments, electrodes containing only PEI or SF, that no significant changes in the voltammogram responses were observed and principal component analysis confirmed these results. The films formation and response were verified using scanning electronic microscopy (SEM). The developed immunosensor seems to be a promising and effective early complementary exam to assist in the VTE diagnosis, through the combined response of two biomarkers very sensible.
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PMID:Detection of factor VIII and D-dimer biomarkers for venous thromboembolism diagnosis using electrochemistry immunosensor. 3288 32