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

A patient with pulmonary embolism caused by paroxysmal nocturnal hemoglobinuria (PNH) is described. PNH sometimes causes venous thrombosis in the extremities, hepatic vein, or cerebral vein, but pulmonary embolism rarely occurs.
 ...
PMID:A case of pulmonary embolism caused by paroxysmal nocturnal hemoglobinuria. 955 19

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired stem cell disorder, with its primary clinical manifestations being hemolytic anemia, marrow failure and thrombophilia. Chronic hemolysis, failures of the fibrinolytic system, increased leukocyte-derived tissue factor levels in plasma, procoagulant microparticles generated through complement-mediated damage of platelets and venous endothelium are related to the acquired hypercoagulable state. Visceral thrombosis (including hepatic veins and mesenteric veins), cerebrovascular events and pulmonary embolism predict a poor outcome. Thrombosis is also associated with significant morbidity during pregnancy. Depending on the sites of thrombosis, a score-based probability to predict outcome can be assigned. Abdominal vein thromboses account for the majority of morbidity and mortality related to thrombosis, and time-dependent trends suggest that mortality rates tend to decline, with the advent of evolution of therapeutic and diagnostic strategies. In contrast, mortality rates from cerebrovascular events display no significant decline. Prompt diagnosis requires both clinical suspicion and sophisticated imaging techniques, along with multidisciplinary therapeutic intervention. In the eculizumab era, a significant reduction of thrombotic events was observed during therapy, and long-term follow up is needed to establish any benefit in rates and pattern of this complication. However, up to now, only bone marrow transplantation permanently abolishes the coagulation defect.
 ...
PMID:Thrombosis in paroxysmal nocturnal hemoglobinuria at a glance: a clinical review. 1885 22

In this review, we provide an overview of the risk factors for venous thromboembolism, focusing on hypercoagulability and hypofibrinolysis. In the first part of this review, we discuss the risk factors for commonly occurring venous thrombosis, in particular deep vein thrombosis and pulmonary embolism. In the second part, we provide an overview of the risk factors for the Budd-Chiari syndrome and portal vein thrombosis. These are rare, life-threatening forms of venous thromboembolism located in the splanchnic veins. There are many similarities in the risk profiles of patients with common venous thrombosis and splanchnic vein thrombosis. Inherited thrombophilia and hypofibrinolysis increase the risk of both common venous thrombosis and splanchnic vein thrombosis. However, there are also apparent differences. Myeloproliferative neoplasms and paroxysmal nocturnal hemoglobinuria have a remarkably high frequency in patients with thrombosis at these unusual sites but are rarely seen in patients with common venous thrombosis. There are also clear differences in the underlying risk factors for Budd-Chiari syndrome and for portal vein thrombosis, suggesting site specificity of thrombosis even within the splanchnic venous system. These clear differences in underlying risk factors provide leads for further research on the site specificity of venous thrombosis and the development of thrombosis at these distinct sites.
 ...
PMID:Hypercoagulability and hypofibrinolysis and risk of deep vein thrombosis and splanchnic vein thrombosis: similarities and differences. 2132 70

A retrospective cohort study of 2,218 patients with deep vein thrombosis or pulmonary embolism during a 25-year period from 1966-1990 in Minnesota showed an annual incidence of venous thromboembolism of 117 per 100,000 (deep vein thrombosis, 48 per 100,000; pulmonary embolism, 69 per 100,000). Higher rates were found in males than females (130 vs 110 per 100,000, respectively) after adjusting for age. Early diagnosis and appropriate treatment of DVT and PE have been shown to significantly reduce mortality and morbidity. Risk factors for venous thromboembolism include alterations in blood flow (surgery, injury or long-distance air travel, pregnancy, obesity), hypercoagulability (factor V Leiden mutation, prothrombin mutation, protein C deficiency, protein S deficiency, antithrombin deficiency, hyperhomocysteinemia, antiphospholipid syndrome, nephrotic syndrome, paroxysmal nocturnal hemoglobinuria) and vessel wall abnormalities. Eighty percent of deep venous thrombosis resolves spontaneously and less than 15% embolize to pulmonary arteries.
 ...
PMID:Saddle pulmonary thromboembolism with zero Wells' score. 2147 78

Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal nonneoplastic hematopoietic stem cell disease characterized by an acquired mutation of the PIG-A gene with reduction or absence of CD55 and CD59. The absence of these proteins renders PNH erythrocytes susceptible to complement-mediated hemolysis. We report the case of a PNH patient before and during pregnancy until delivery. We observed and treated some postpartum thrombotic complications. Eculizumab should be used with caution in pregnancy. There are several reports supporting its use in these patients. This case should be considered paradigmatic of a series of clinical situations that may occur in the course of a pregnancy in patients with PNH: increased need for transfusion, need to increase the dose of Eculizumab, and insurgence of fetal sufferance. Moreover, after delivery, the patient, despite adequate prophylaxis with low-molecular-weight heparins, presented severe complications: development of pleural and peritoneal effusion, pulmonary embolism, bilateral upper limbs thrombophlebitis, and a possible abdominal angina with a transient paralytic ileus. All these complications were overcome and now the baby is healthy and the mother has returned to the usual therapeutic regimen.
...
PMID:Postpartum thrombotic complication in a patient with paroxysmal nocturnal hemoglobinuria. 2568 59

Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon disorder characterized by hemolysis, thrombosis and marrow failure. Whereas venous and arterial thrombosis is a very common symptom of the disease, the frequency of PNH clones in patients with unexplained venous thromboembolism, including deep vein thrombosis and pulmonary embolism, has not been studied. We conducted a cross sectional study evaluating the presence of PNH clones in patients with prevalent venous thromboembolism using a high sensitivity flow cytometry assay for erythrocytes and neutrophils. Among the 388 patients enrolled in the study one patient had a detectable PNH clone of 0.02% in the neutrophil population (0.26%; 95% CI 0.05 to 1.45) and no detectable erythrocyte clone. We conclude that the presence of PNH clones in patients with idiopathic venous thrombosis is rare. Screening for PNH clones among VTE patients might be better reserved for patients with signs of hemolysis.
...
PMID:Screening of patients with idiopathic venous thromboembolism for paroxysmal nocturnal hemoglobinuria clones. 2589 Apr 52