Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149871 (deep vein thrombosis)
 12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bleeding and thrombosis are major causes of morbidity and mortality in patients with chronic myeloproliferative disorders. We retrospectively evaluated 101 consecutive patients affected by primary thrombocytosis (46 male, 55 female, aged 18-84 years; mean +/- SD 61 +/- 15) followed for a period ranging from 6 months up to 10 years (median 5 years) at our hematological unit. At the time of diagnosis 48 patients were asymptomatic; 26 had clinical evidence of atherothrombosis (cerebral ischemic attacks, ischemic heart disease, peripheral occlusive arterial disease), ten had venous thrombosis, four experienced major hemorrhages, 23 presented microvascular ischemic manifestations namely erythromelalgia, paresthesias, acrocyanosis and dizziness. At presentation 51.2% of the patients had elevated serum lactic dehydrogenase, 34.5% hyperuricemia, and 23.4% serum creatinine > 1.2 mg/dL. Color Doppler ultrasound provided evidence of vascular stenosis or medium-intimal hyperplasia of epiaortic vessels in 48.9% of patients studied, and similar alterations of lower limb arteries in 23.8% of cases. Therapy modality included an antiplatelet agent (picotamide 300 mg/bid); a cytoreductive agent (busulphan, hydroxyurea, pipobroman or melphalan) was used when platelet count was > 800000/microL. Symptoms due to microvascular ischemia promptly regressed after picotamide and cytoreductive therapy. During follow-up. nine patients suffered from atherothrombotic events (transient ischemic attacks, ischemic stroke, unstable angina pectoris) and five developed deep vein thrombosis or superficial thrombophlebitis. Five patients experienced major hemorrhages (two melena, two hematuria, one perioperative bleeding); the two gastrointestinal hemorrhages occurred in patients self-medicated with non steroidal anti-inflammatory drugs, and the two episodes of hematuria occurred on oral anticoagulant therapy and aspirin respectively. No major bleeding occurred in patients on continuative therapy with picotamide, even in the presence of upper digestive tract disorders. Seven patients died: mortality resulted from one sudden coronary death, three solid neoplasia, one blast crisis, one anile, and one massive hemorrhage due to abdominal aortic prosthesis tearing. Our study suggests that a long-term antithrombotic prophylaxis with picotamide may be of benefit in patients affected by primary thrombocytosis; a controlled clinical trial is warranted to assess whether picotamide can ameliorate the natural history of the disease.
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PMID:Thrombotic and hemorrhagic complications in chronic myeloproliferative disorders. 895 59

This article addresses the issue of thromboembolic disorders associated with the prothrombin G20210A gene mutation, with heparin cofactor II (HC-II) defects and with primary (essential) thrombocythemia. The prothrombin gene mutation is of recent discovery, is inherited as an autosomal dominant disorder, and seems to be highly prevalent in the general white population. The incidence is almost as high as that known for factor V Leiden. Both venous and arterial thromboses are noted, especially deep venous thrombosis, including cerebral venous events and myocardial infarction. As with other congenital thrombophilic states, additional risk factors or multiple defects seem to precipitate the events. Although initially elevated plasma prothrombin levels were described in these patients, this is no longer valid for all patients. At this time there is no easy screening test to detect this defect, but, because of the high prevalence, prothrombin G20210A gene mutation should routinely be assayed for in thrombophilic patients. The association between HC-II defects and thromboembolism is more controversial, and reports both confirming and denying this association have been described. The congenital form of HC-II defect is autosomal dominant. HC-II can be determined by its activity and immunologically. HC-II defects very likely play a role in conjunction with other congenital or acquired defects. Acquired HC-II defects are found in association with systemic disseminated intravascular coagulation (DIC) but not with local activation of the hemostasis system. HC-II levels are also decreased in preeclamptic women, and newborns have physiologically low levels. HC-II defects in thrombophilic patients should be considered after the more common disorders have been ruled out. Primary (essential) thrombocythemia can be associated with both thromboembolic events and bleeding. Typical thrombotic manifestations are erythromelalgia and microvascular thrombosis. Also, pregnant females suffer high rates of complications, such as spontaneous abortion. A number of treatment modalities are at present available to not only decrease platelet counts but also manage thromboembolic events.
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PMID:Prothrombin G20210A gene mutation, heparin cofactor II defects, primary (essential) thrombocythemia, and thrombohemorrhagic manifestations. 1054 71

The aim of the studywas to determine the risk of thrombosis among patients with Essential thrombocythemia based on the modern criteria of diagnosis and to reveal the treatment accordingmethods of research in Georgia. We analyzed clinical manifestations of 25 cases of Essential thrombocythemia diagnosed in 2013-2017 y. at the Institute of Hematology and Transfusiology. Among 25 patients, female was 20 (80%), male - 5 (20%). Age varies from 28 to 75 years. Patients had the following clinical manifestations: The severity of the lower limbs, numbness, pain (erythromelalgia) in 13 (52%) of cases, headache in 7 (28%), dizziness in 5 (20%), splenomegaly in 6 (24%), bleeding in 1 (4%), several discontinued pregnancy in the first trimester in 1 (4%), thrombotic complication had been diagnosed in 8 (32%) of patients. In 8 (32%) patients with thrombosis in medical history, myocardial infarction had 2 patient, ischemic stroke - 2 patient, deep vein thrombosis - 2 patient, thrombosis of spleen artery - 1 patient, door vein thrombosis -1 patients. Laboratory indicators for patients at the moment of diagnosis were as follows: Hemoglobin level was 120-160g/L, Erythrocytes-3,7-5,2x1012/L, Leukocytes-10,2-35,5x109/L, Platelets - 860,0-4300,05x109/L. Cytological study ofbone marrow revealed hyper cellular bone marrowwith neutrophilic profile. There are a large number of megakaryocites and their large clusters. In bone marrow biopsy bone and bone marrow structure is mainly stored. There is a hyperplasia of myeloid tissue, a sharp or moderate hyperplasia of megakaryocite. Sometimes weak fibrosis is expresseds (4 patients). JAK-2 genes can only be studied in 3 (12%) cases: in 2 (8%) cases, gene mutations were 48% and 52%, while the gene mutation with 1 (4%) patient was only 12%. Based on international multi-center studies by WHO experts group, the risk of thrombosis development was predictable (WHO-ET-IPSET-thrombosis). Based on our data, we have identified thrombotic risk groups as well as the criteria that contributed to the increased risk: these are more likely to have thrombotic complications in medical history, existence ofJAK-2gene mutation, lesser than age >60years, risk factors from the cardiovascular system (Diabetes mellitus,Hypertension, smoking). From the patients who were studied, 10 (40%) were in the high risk group of thrombosis, 3 (12%) in the average risk group and 12 (48%) in thelow risk group. The goal of treatment of Essential thrombocythemia is to stop the progression of the disease and cure the symptoms of the disease.The methods of treatment for improving the quality of life of patients are multi-component and are divided into the following groups: 1) Prophylaxis of thrombotic complications; 2) cytoreductionalchemothrapy; 3) targeted therapy- JAK-2kinase activity inhibitors; 4) treatment of complications.
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PMID:DETERMINING THE RISK OF THROMBOSIS AMONG THE PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA. 3224 62