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)

The effect of oral contraceptive therapy was studied in five patients with homozygous activated protein C resistance. Patients with this congenital abnormality, in contrast to those with antithrombin, protein C or protein S deficiencies, showed only a mild thrombotic tendency. In fact, only two of six observations (one patient took the pill on two separate occasions many years apart) showed deep vein thrombosis. No patient had pulmonary embolism. Two additional patients had a superficial vein thrombosis of the legs. In two instances, a superficial vein thrombosis and a deep vein thrombosis, concomitant risk factors were present (immobilization and surgery for an ovarian cyst, respectively). However, compared with heterozygous for the same abnormality, the symptomatic homozygous patients with APC resistance appeared to develop thrombosis after a shorter period of oral contraception.
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PMID:Homozygous patients with APC resistance may remain paucisymptomatic or asymptomatic during oral contraception. 889 47

Resistance to activated protein C (APC resistance) was measured in 284 individuals (169 females, 115 males) with a history of objectively confirmed venous thrombosis and/or pulmonary embolism. A decreased APC resistance ratio was found in 75 patients (26%), 47 were females, 28 males. Factor V Leiden was investigated in 60 of 75 patients with APC resistance, of whom 46 were heterozygous, 4 homozygous. In 10 APC resistant patients the Arg 506 Glu mutation was not identified. The median age of the first thromboembolic event in patients with APC resistance was 42 years (range 15-82 years). Most patients had a history of deep vein thrombosis (83%), 28% had experienced pulmonary embolism. More unusual sites of thrombosis were the deep arm veins (7%) and mesenteric veins (one patient, 1.3%). 53% of patients developed the first thromboembolic event spontaneously. Precipitating conditions for thromboembolism were surgery in 9.3% and trauma in 8%. In one third of female patients the first thromboembolic event occurred in conjunction with pregnancy and delivery (14.8%) or oral contraceptives (19%). At the time of investigation 40% of patients with APC resistance had experienced recurrent thromboembolic events. The family history was positive in 60% of patients. We conclude that the clinical feature of APC resistance is similar to the feature of a deficiency of antithrombin, protein C and protein S. Pregnancy, delivery and oral contraceptives seem to be a relevant additional risk factors for thrombosis in females with APC resistance.
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PMID:Thrombotic tendency in 75 symptomatic, unrelated patients with APC resistance. 892 76

The diagnostic strategies and clinical characteristics of thrombophilia associated with heterozygous or homozygous factor V Leiden mutation have been determined according to the literature and to a personal study in 51 families. Factor V mutation was present in the 51 propositi and in 84 out of 125 family members (81 heterozygous, 3 homozygous). Venous thrombosis was observed in all the propositi, in 17 of the 84 family members with the mutation and in 6 of the 41 with a normal APC resistance test and no mutation. An associated protein C or protein S deficiency was present in 5 families (10%). The most frequent clinical manifestations were superficial or deep vein thrombosis and/or pulmonary embolism, but also thrombosis at an unusual site (cerebral, mesenteric or central retinal vein). A causal relationship is frequently difficult to demonstrate. A precipitating factor was observed in 84% of cases and a recurrent thrombotic episode occurred in 50% of propositi. The risk of thrombosis associated with pregnancy was high in the post-partum period, especially in homozygous women. In the 28 homozygous subjects, markers of coagulation activation were frequently elevated in untreated patients. Finally, the efficacy of anticoagulant treatment is suggested but the long period often observed between treatment interruption and a recurrence does not militate in favour of long term treatment.
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PMID:Diagnosis and clinical characteristics of inherited activated protein C resistance. 897 37

Thrombomodulin is an endothelial cell membrane glycoprotein that promotes protein C activation. It has been clearly demonstrated that the anticoagulant functions of the protein C system are important in the prevention of thromboembolic disease. Patients with protein C or protein S deficiency and/or resistance to activated protein C (APC resistance) are at higher risk for developing thromboembolic disease. The first mutation in the thrombomodulin gene was discovered in an American patient suffering from pulmonary embolism at the age of 45 (Ohlin and Marlar 1995). Here we report a case of sagittal sinus thrombosis in a 42-year-old Swedish woman. She was found to carry a heterozygous point mutation changing G127 to A, predicting an Ala25 to a Thr change in the mature thrombomodulin protein. This mutation was also found in her 16-year-old daughter, who so far has not suffered from any thrombotic events. The patient had no other detectable prothrombotic genetic defects associated with the coagulation system. This case supports the hypothesis of an association between mutations in the thrombomodulin gene and venous thrombosis.
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PMID:A novel thrombomodulin gene mutation in a patient suffering from sagittal sinus thrombosis. 936 78

Postoperative venous thromboembolic complications are commonly seen after total replacement of the hip or knee. Recently, an inherited defect with resistance to the anticoagulant activity of activated protein C (APC-resistance) has been detected. APC-resistance seems to be a common risk factor, especially in Sweden, and it increases the propensity for venous thrombosis. This study assesses the prevalence of APC-resistance in a general population and its clinical significance for patients undergoing surgery associated with a high risk of thromboembolic complications. In a prospective cohort study, we analysed for APC-resistance in 645 consecutive patients before elective replacement of the hip or knee at 3 hospitals in southern Sweden. Thromboprophylaxis with LMWH-heparin was given to all patients throughout the hospitalisation period. We recorded events of clinical thromboembolism for 3 months postoperatively. Venography, ultrasonography or pulmonary scintigraphy was requested by the clinicians according to the existing routines, i.e. only patients with symptoms of thromboembolism were examined. A thromboembolic complication was registered in 20 (3.1%) patients. Fifty per cent of the venous thrombi had a proximal location. Only 0.3% of the patients had verified pulmonary embolism. APC-resistance was found in 14.1% of the patients, of whom 9.9% had experienced postoperative thromboembolism compared with 2.0% of the patients without APC-resistance (p<0.0007). We conclude that APC-resistance is a frequent risk factor for symptomatic postoperative deep venous thrombosis with an estimated relative risk of 5.0 (95% confidence interval: from 1.9 to 12.9) in elective replacement of the hip or knee.
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PMID:APC-resistance is a risk factor for postoperative thromboembolism in elective replacement of the hip or knee--a prospective study. 1034 13

A 26-year-old woman, after cesarean section in the 33rd week of gestation, developed after delivery thrombosis of the popliteal vein, pulmonary embolism and thrombosis of the portal vein. After completion of a six month period of oral anticoagulation, laboratory investigations revealed diminished levels of plasminogen and free protein S antigen as well as APC-resistance due to heterozygous FV R506Q mutation. After six uneventful years, abdominal sonography and magnetic resonance examination, performed because of abdominal pain, showed liver cirrhosis with Budd-Chiari syndrome. Additional hematological investigations led to the diagnosis of polycythemia vera. Association of myeloproliferative disorders, mainly polycythemia vera, with splanchnic venous thrombosis is well known and should always be looked for.
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PMID:[A 26-year-old woman with splanchnic vein thrombosis as the initial manifestation of polycythemia vera]. 1051 20

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

Thromboembolism of the vena cava, the venae iliaca communis, externa, femoralis, poplitea, and the fibular vein group of the left lower limb was diagnosed in a 13 year old girl. Several thrombogenic risk factors (APC-resistence, homocystinuria, contraception, smoking) were identified. Due to painful symptoms and for prevention of postthrombotic syndrome continuous systemic thrombolysis with rt-PA (0,5 mg/kg/d), in addition to heparine, was performed for 6 days. Diagnostic imaging at the end of therapy demonstrated complete and partial recanalization of the vena cava inferior, venae iliaca communis and externa. The distal veins of the leg remained occluded. After catheterization of the internal jugular vein and placement of a cava filter only mild pulmonary embolism occurred during systemic thrombolysis. No further complications were observed. All in all, therapy was tolerated well. Systemic thrombolysis with rt-PA in children and adolescents, although not established for regular treatment, is an effective therapeutic option in severe venous thrombosis.
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PMID:[Successful partial lysis of a 4-level-thrombosis by rt-PA - case report]. 1197 16

Acute myocardial infarction is a very rare event during pregnancy and bears the problem of misdiagnosis. However, about 150 cases have been published worldwide with a preponderance of anterior wall infarcts. With more women delaying childbearing until an older age and increasing prevalence of smoking in young women, it can be expected that all forms of coronary artery disease--including acute myocardial infarction--will be seen more often in the future. Among the causes of coronary artery occlusion in pregnancy are (1) rupture of very small coronary artery plaques triggered by different events, e.g., hypertension; (2) plain coronary artery disease; (3) dissection of coronary arteries; (4) coronary artery spasms with/without arterial thrombosis. Prompt diagnosis and immediate therapy are necessary to lower the high mortality of mother and fetus. The gold standard in the therapy of acute myocardial infarction during pregnancy is immediate coronary angiography and percutaneous transluminal coronary angioplasty (PTCA) with or without stent implantation. Application of thrombolytics (recombinant tissue plasminogen activator [rt-PA], r-PA, streptokinase [SK], urokinase [UK]) has been reported in single patients but should be limited to cases where acute PTCA is not available and where the infarct occurs before the 14th week of pregnancy because of possible embryopathy. If the patient is in the last 10 weeks of pregnancy, anticipation of delivery should be part of the medical planning. Consultation with an obstetrician must be obtained as soon as the patient enters the hospital. Besides bleeding complications, venous thrombosis with pulmonary embolism is among the most common causes of death during pregnancy. Pregnancy-related changes in physiology - increase in the resistance to flow from the lower extremities to the heart - and congenital coagulation abnormalities are most important to be recognized. This leads to the fact that superficial and deep venous thromboses occur more often in pregnancy than in the nonpregnant state. Among the coagulation abnormalities found in pregnancy are hypercoagulability (increased levels of fibrinogen, factor VII, factor VIII, factor X), decreased fibrinolytic activity due to an increased level of plasminogen activator inhibitor, increased adhesion and aggregation of platelets, decreased level of protein C and of the APC (activated protein C) ratio. Individual risks factors justifying diagnostic screening include contraception, smoking, immobilization, infection, adiposity, placental insufficiency, and a family history of thrombosis. It is even more important to establish/rule out the diagnosis of thrombosis in pregnancy than in the nonpregnant state, because the use of anticoagulants carries certain risks during pregnancy. Doppler vein studies should be used for diagnosis. If necessary, venography may be used with shielding of the maternal abdomen. Therapy consists of subcutaneous application of heparin, compression, and early mobilization. Alternatively, especially for long-term management, treatment with low molecular weight heparins is feasible. Thrombolytic treatment is contraindicated in most cases due to the high risk of bleeding complications. However, the application of thrombolytics can be contemplated in single cases after careful consideration of the pros and cons. Most cases of pulmonary embolism should also be handled conservatively with heparin. Only in massive pulmonary embolism with severe hemodynamic compromise, thrombolytic treatment is indicated. To guide future therapy in the patients, it is necessary to establish the lifetime risk of recurrent events by determining: APC resistance, prothrombin mutation 20210 A, homocysteine, AT III, protein C and S, antiphospholipid antibodies, and anticardiolipin antibodies.
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PMID:[Myocardial infarction and thromboembolism during pregnancy]. 1275 75

The aim of the work was to evaluate the safety of Vascuport catheter long-term application in children treated for acute lymphoblastic leukemia (ALL). 21 children treated in the Department of Pediatric and Hematology in Zabrze were enrolled in the study. Echocardiography and ultrasonography were performed to examine Vascuport catheter in the central vein. Coagulation parameters were estimated too. None of the children presented symptoms of pulmonary embolism or venous thrombosis. Thrombotic material was found on the course of Vascuport catheter in 5 (23%) children. Changes in the hemostatic system: increased d-dimmer levels in 2 (9%), increased fibrinogen level in 7 (33%), decreased value of APC-R in 7 (33%) and protein C in 8 (38%) children were observed. Changes of hemostatic system and presence of thrombotic material on the course of Vascuport catheter in 23% of the patients with ALL imply the necessity of rigorous monitoring of haemostatic system as well as Vascuport catheter in the central vein. In case the risk factors of thrombotic events or their clinical symptoms are present anticoagulant therapy should be introduced.
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PMID:[Evaluation of thromboembolic complications in children treated for acute lymphoblastic leukemia with Vascuport catheters]. 1599 52


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