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)

Activated protein C resistance caused by factor V Leiden mutation is the most common inherited cause of an underlying predisposition to pulmonary embolism (PE) and deep venous thrombosis (DVT). We studied the frequency of the factor V Leiden mutation in 50 women who had PE and/or DVT during or after pregnancy or during oral contraceptive use. Ten (20%; 95% CI 10% to 34%) of the 50 women were heterozygous for the mutation. First-trimester PE or DVT developed in 6 (60%; 95% CI, 26% to 88%) of the 10 women with the mutation compared with 3 (8%; 95% CI 2% to 20%) of 40 women without the mutation (p = 0.0009). These data indicate that the factor V Leiden mutation is an important risk factor for PE or DVT during pregnancy (especially the first trimester), after pregnancy, or during oral contraceptive use.
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PMID:Pulmonary embolism and deep venous thrombosis during pregnancy or oral contraceptive use: prevalence of factor V Leiden. 864 93

Activated protein C resistance caused by factor VLeiden mutation is the most common inherited predisposing cause of venous thromboembolism, including pulmonary embolism (PE). We studied whether the incidence of factor VLeiden is higher among patients with PE evident at autopsy than in the general population. Paraffin-embedded fixed tissue blocks from all autopsy patients with diagnosed pulmonary thromboembolic disease during a 4-year period were collected for DNA extraction. Extraction and molecular analysis of the DNA was performed with an improved technique with an internal control to determine the presence of factor VLeiden mutation. Analysis of 82 autopsy cases with PE yielded 5 patients who were heterozygotes. Seventy-seven of the 82 patients analyzed were normal, and no homozygotes for factor VLeiden mutation were identified. This yielded a positive rate of 6% overall and 7% among white patients, which is similar to the incidence of heterozygotes in the white population. This study indicates that routine determination of factor VLeiden mutation is not warranted for patients with PE diagnosed at autopsy.
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PMID:Prevalence of the factor VLeiden mutation among autopsy patients with pulmonary thromboembolic disease using an improved method for factor VLeiden detection. 1076 65

Deep vein thrombosis (DVT) and pulmonary embolism remain important causes of morbidity and mortality. Without prophylaxis, at least 60% of patients undergoing orthopaedic or trauma surgery develop DVT, and the rate may still be as high as 20-45% even with the best prophylaxis available. The rate of thrombosis may be reduced by wider use of established prophylactic measures and targeting more intense prophylaxis to very-high-risk patients. Novel agents such as pentasaccharides and recombinant hirudins may provide more effective prophylaxis in very-high-risk settings, but their optimal use requires accurate assessment of thromboembolic risk. Risk levels are influenced both by the clinical setting and patient factors, such as obesity and malignancy. There is now growing interest in the influence of molecular risk factors, including acquired thrombophilias and congenital coagulation disorders. Activated protein C resistance and hyperhomocysteinaemia have been recently identified as potential risk factors. Further investigations are needed to clarify the individual contribution of different clinical and molecular factors to overall thromboembolic risk, and the effects of interactions between them. Screening for clotting disorders and other additional risk factors may assist identification of very-high-risk patients and allow appropriate targeting of intensive prophylactic therapy.
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PMID:Applying risk assessment models in orthopaedic surgery: effective risk stratification. 1049 32

Activated protein C resistance (APC-R) is the most common inherited defect of the coagulation system known to date, affecting 3-5% of Americans. It is an autosomal dominant disorder associated with an increased risk of venous thrombosis and is reportedly found in 21% of individuals with deep venous thrombosis. Medical examiners are in a unique position to make the diagnosis since a fatal pulmonary embolism may be the first manifestation of the disorder. This study examines the prevalence of APC-R in individuals who die suddenly of pulmonary embolism to help medical examiners decide if routine testing is indicated. We examined 66 cases of sudden death due to pulmonary embolism seen at the Bexar County Forensic Science Center in San Antonio, Texas, from 1993-1997. The median age was 46 years with a range of 14 to 93 years. Fifty-three percent were Caucasian, 24% were African-American, and 23% were Hispanic. Twenty-seven percent had no known risk factors for pulmonary embolism. Whole blood was tested for the factor V codon 506Q mutation responsible for APC-R using polymerase chain reaction. The prevalence of APC-R was 4.5%, which is similar to the prevalence of APC-R in the general American population. These data imply that individuals with APC-R are not in increased risk for sudden death due to pulmonary embolism, or, conversely, that most fatal pulmonary emboli seen in the medical examiner setting are not induced by APC-R. Routine postmortem testing for the factor V 506Q mutation does not appear indicated at this time, given the low prevalence and high cost of testing.
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PMID:Activated protein C resistance is uncommon in sudden death due to pulmonary embolism. 1058 51

Activated protein C resistance (APCR) describes a hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). This results in an increased risk of venous thrombosis, including deep vein thrombosis and pulmonary embolism. Protein C is a natural anticoagulant that is synthesized in the liver and is activated to APC via proteolysis. APC then degrades Factors Va and VIIIa. APCR describes the reduced inability of APC to cleave Factors Va and VIIIa, which therefore promotes increased thrombin generation and potentially leads to a prothrombotic state. APCR may be hereditary or acquired. The most common hereditary defect is due to mutations in Factor V, predominantly the Factor V Leiden [FVL] mutation-a G1691A missense mutation at Arginine 506 that results in its replacement by a glutamine [R506Q] and the abolition of an APC inactivation cleavage site in Factor Va. Laboratory testing for APCR may be undertaken by a variety of methods, but this chapter describes an automated procedure using a commercial Russell Viper Venom-based clotting assay, and using CS-5100 and STA-R analyzers.
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PMID:Laboratory Testing for Activated Protein C Resistance (APCR). 2880 24