Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.21.69 (APC)
 16,337 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pulmonary hypertension due to recurrent thromboembolism is a rare disease but life-threatening. We evaluated 18 patients (11 female, 7 male) with this pathology between 1973 and 1991. We compared clinical features and evolution of our patients with the ones of the literature. The mean interval between beginning of symptoms and diagnosis was 5 years (range 1-10 years) and the most frequent symptom was increasing dyspnoea. In 2 of our patients there were well definite predisposing causes for thromboembolism (intracardiac catheters), 6 of the others had a previous episode of acute pulmonary embolism. Mean pulmonary arterial pressure was 50 mmHg and low output was present in 8 of these. Lung perfusion scintigraphy was diagnostic in 98% of cases showing segmental defects and pulmonary angiography confirms diagnosis revealing abrupt cut-off of cases showing segmental defects and pulmonary angiography confirms diagnosis revealing abrupt cut-off a major pulmonary artery. Angiographic evaluation of thrombus extent and location was difficult. In a small number of patients was found lupus anticoagulant, deficiency of protein C, of protein S and of antithrombin III. Mortality in medical treatment was 39% at a mean follow-up of 4-5 years. Progression of pulmonary hypertension was due to recurrent pulmonary embolism only in 30-40% of cases. The role of caval filter is not well established. Thromboendarterectomy shows immediate good results at short time but the long-term results are not known.
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PMID:[Thromboembolic pulmonary hypertension]. 184 71

A congenital deficiency of factor VII and protein C was found in a 21-year-old female suffering from recurrent and progressive attacks of dyspnea and hemoptysis over the last four years. She has been followed in our Department since the age of 17 under a diagnosis of peripheral pulmonary artery stenosis and pulmonary hypertension as confirmed by cardiac catheterization and angiography. Prolonged prothrombin time repeatedly examined during this time period prompted us to perform detailed coagulation studies. We found that factor VII and protein C were both half normal in activity as well as in antigen. Three other members of her immediate family were also found to be affected with this combined deficiency. Since the genes encoding factor VII and protein C are located in different chromosomes, the 13th and the second chromosomes, respectively, expression of the combined hereditary deficiency is a random and very rare association on the basis of frequencies of 1:50,000 for factor VII and 1:16,000 for protein C deficiencies.
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PMID:Combined factor VII and protein C deficiency found in a patient with peripheral pulmonary artery stenosis accompanied by progressive pulmonary hypertension and hemoptysis. 318 53

The carbohydrate deficient glycoprotein (CDG) syndrome is a newly described disorder characterized by impaired glycosylated molecules. It has been reported that transient stroke-like episodes appear in half of the patients. We performed hemostatic studies on three CDG syndrome patients belonging to two unrelated families. The most characteristic findings were decreases in antithrombin III (AT III), protein C and alpha 2 plasmin inhibitor to nearly half normal levels. Protein S was reduced in two (siblings) patients. Isoelectric focusing of AT III in native plasma revealed decreased intensity of the major band and increased intensity of a minor cathodal band. These minor AT III molecules were considered to lack an oligosaccharide sidechain. A 12-year-old girl defective not only for AT III but also protein C and protein S developed disseminated intravascular coagulation accompanied by arterial thrombosis in her left hand following dyspnea associated with bronchial asthma. These findings suggest that thrombotic predisposition in patients with CDG syndrome is due to decreased levels of major coagulation inhibitors, particularly as a result of impaired glycosylation of AT III.
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PMID:Hemostatic studies in patients with carbohydrate-deficient glycoprotein syndrome. 786 68

A 32-year-old woman was hospitalized with recurrent left-sided chest pain and dyspnea on exertion, which had progressed for approximately 10 years. Since age 18 she had been spending more than twelve hours per day in a predominantly seated position on a floor mat, engaged in Japanese dressmaking. A chest roentgenogram showed marked dilation of the main pulmonary arteries, bilateral oligemia in the upper lung fields and a peripheral infiltration in the middle field of the left lung. The (99m)Tc-MAA perfusion lung scan showed multiple defects in both lungs, but no abnormal findings were detected on a 133Xe ventilation scan. A pulmonary angiogram showed multiple occlusions of pulmonary arteries in both lungs. Because recurrent chest pain and dyspnea had been present for a long time, and because ultrasonic cardiography revealed pulmonary hypertension repeatedly for several years, pulmonary thromboembolism was considered to be chronic and recurrent. The patient had none of the following risk factors for pulmonary emboli: malignancy, neurological disease, heart disease, obesity, pregnancy, or a congenital coagulative abnormality such as deficiency of AT-III, protein C, protein S, or plasminogen. Because no other cause could be found, the chronic recurrent pulmonary thromboembolism most likely resulted from extensive sedentary work that caused stagnation of venous return and deep vein thrombosis.
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PMID:[Chronic recurrent pulmonary thromboembolism associated with sedentary work]. 862 76

Deep-vein thrombosis (DVT) and pulmonary embolism are among the most common complications of heparin-induced thrombocytopenia (HIT), an antibody-mediated adverse effect of heparin that leads paradoxically to in vivo activation of platelets and the coagulation system. Inappropriate treatment of HIT-associated DVT with warfarin can cause the DVT to progress to limb gangrene: this results from impaired ability of the protein C natural anticoagulant pathway to down-regulate thrombin generation, thus leading to microvascular thrombosis and tissue necrosis. Appreciation of the importance of coagulation system activation in HIT provides a rationale for treatments that reduce thrombin generation, either via inhibiting factor Xa (danaparoid) or via inhibiting thrombin directly (lepirudin). Clinicians should know how to distinguish HIT from other thrombocytopenic disorders: for example, thrombocytopenia associated with pulmonary embolism can mimic HIT (pseudo-HIT), and acute dyspnea that can mimic acute pulmonary embolism can result from acute in vivo platelet activation in a patient with HIT antibodies who receives heparin bolus therapy (pseudo-pulmonary embolism).
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PMID:Venous thromboembolism in heparin-induced thrombocytopenia. 1091 44

A 48-years old man complained of dyspnea and was admitted to the hospital. Chest enhanced CT confirmed the presence of the thrombus in the pulmonary artery. Cardiac catheterization showed severe pulmonary hypertension (mean PAP 75 mmHg). ATIII level, protein C and S antigen were within normal range. Anticardiolipin antibody and lupus anti-coagulant determination were negative. He was diagnosed as chronic pulmonary thromboembolism, and underwent pulmonary thromboendarterectomy via median sternotomy under deep hypothermic intermittent circulatory arrest. At the same time IVC filter was inserted. The origin of the thrombus was not detected before operation, but after surgery, MR angiography of total body showed a cavernous hemangioma at left lower limb. We speculated this lesion was the origin of pulmonary embolism.
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PMID:[Surgical treatment of chronic pulmonary thromboembolism caused by a cavernous hemangioma at the lower limb]. 1159 38

Protein C deficiency is an inherited thrombophilia presented in adults with venous thrombosis at different sites. Symptomatic biatrial thrombus presentation of protein C deficiency has not, to my knowledge, been described. This report investigates a man with protein C deficiency who presented with dyspnea and recurrent attacks of dizziness associated with biatrial thrombus. Complete disappearance of the symptoms and thrombi was observed within less than 3 weeks of anticoagulation.
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PMID:Protein C deficiency. Biatrial thrombus presentation. 1217 42

A 66-year-old man was admitted to our hospital because of progressive dyspnea on effort. Arterial blood gas analysis showed severe hypoxemia, and a chest radiograph revealed reticular shadows in both lower lungs and an increase of the cardiothoracic ratio. Echocardiography demonstrated mild indentation of the interventricular septum toward the left ventricle, moderate pericardial effusion and pulmonary hypertension. From these data, we diagnosed pulmonary thromboembolism and started anticoagulation therapy. After the addition of the administration of warfarin and oxygen therapy, his symptoms disappeared. However, we could not obtain more supporting evidence of thromboembolization by methods of ventilation-perfusion scanning, digital subtraction angiography of the pulmonary artery, or venography. Blood coagulation analysis demonstrated that the patient's plasma protein C antigen levels and its activity were depleted. The patient's son had a history of thrombophlebitis and pulmonary embolization, and his data of protein C antigen levels was also decreased. Therefore, this patient was found to have a character of familial protein C deficiency type I. We could not get the conclusive proof of pulmonary thromboembolism, but we considered that the presence of familial protein C deficiency may cause exacerbation of pulmonary hypertension.
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PMID:[Pulmonary thromboembolism associated with familial protein C deficiency type I]. 1293 72

Venous thromboembolism (VTE) occurs infrequently but is a leading cause of illness and death during pregnancy and the puerperium. In the general population the incidence of pregnancy associated VTE is approximately 1 in 1500 deliveries The risk of VTE is five times higher in a pregnant than in a non-pregnant woman. Postpartum the VTE-risk is even higher. Women with congenital abnormalities or persistent presence of antiphospholipid antibodies have an increased risk of VTE during pregnancy and the puerperium. In individuals with well defined hereditary thrombosis risk factors, such as the factor V:R506Q mutation, the factor II:G20210A variation, antithrombin-deficiency or protein C-deficiency, a relative risk of pregnancy associated VTE between 3.4 and 15.2 has been found. Women with previous VTE have an approximately 3.5 fold increased risk of recurrent VTE during pregnancy compared to non-pregnant periods. Our ability to diagnose pregnancy-associated VTE clinically is generally poor, since dyspnea, tachypnea, swelling and discomfort in the legs are common. Objective diagnosis is essential for treatment decisions. Exposure to radiation of less than 50,000 microGy (5 rad) has not been associated with a significant risk of fetal injury Therefore, besides sonography, routine diagnostic procedures should be performed, if clinically necessary. Heparin does not cross the placenta and is therefore the anticoagulant of choice. In case of acute thrombosis during pregnancy, treatment is performed like in nonpregnant patients. There is ongoing debate, whether or not pregnant women with previous venous thrombosis should routinely receive prophylactic anticoagulation. In patients who have hereditary antithrombin deficiency, antiphospholipid antibodies, a combined abnormality or a history of a severe thrombotic event (pulmonary embolism, extended deep vein thrombosis) should be advised to use prophylactic heparin during pregnancy, starting during the first trimester. Post partum prophylaxis should be given in all women with an increased risk for VTE.
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PMID:Pregnancy-associated thrombosis. 1367 67

Venous thromboembolism occurs infrequently but is a leading cause of illness and death during pregnancy and the puerperium and remains a diagnostic and therapeutic challenge. In the general population the incidence of pregnancy associated VTE has been estimated to vary from 1 in 1000 to 1 in 2000 deliveries. The risk of VTE is five times higher in a pregnant woman than in a nonpregnant woman of similar age. Postpartum VTE is more common than antepartum VTE. Women with congenital abnormalities or persistent presence of antiphospholipid antibodies have an increased risk of VTE during pregnancy and the puerperium. In individuals with well defined hereditary thrombosis risk factors, such as the factor V:R506Q mutation, the factor II:G20210A variation, antithrombin-deficiency or protein C-deficiency, a relative risk of pregnancy associated VTE between 3.4 and 15.2 has been found. Women with previous VTE have an approximately 3.5 fold increased risk of recurrent VTE during pregnancy compared to non-pregnant periods. Our ability to diagnose deep-vein thrombosis clinically is generally poor and is further hampered during pregnancy since dyspnea, tachypnea, swelling and discomfort in the legs are common. Objective diagnosis is essential for treatment decisions. Exposure to radiation of less than 50,000 microGy (5 rad) has not been associated with a significant risk of fetal injury. Therefore, besides sonography, routine diagnostic procedures should be performed, if clinically necessary. Heparin does not cross the placenta and is therefore the anticoagulant treatment of choice during pregnancy. In case of acute new onset of thrombosis during pregnancy, treatment is performed like in non-pregnant patients with acute deep vein thrombosis or pulmonary embolism. There is ongoing debate, whether or not pregnant women with previous venous thrombosis should routinely receive prophylactic anticoagulation. In patients who have hereditary antithrombin deficiency, antiphospholipid antibodies, a combined abnormality or a history of a severe thrombotic event (pulmonary embolism, extended deep vein thrombosis) should be advised to use prophylactic heparin during pregnancy, starting during the first trimester. Post partum prophylaxis should be given in all women with an increased risk for VTE.
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PMID:Thrombosis during pregnancy: risk factors, diagnosis and treatment. 1367 66


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