1/27. Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism.BACKGROUND AND OBJECTIVE: A new genetic risk factor for venous thromboembolism has recently been described which involves a G to A transition at position 20210 in the 3' untranslated region of the prothrombin gene. To date, only a few homozygotes for this mutation have been reported and in most of cases, they suffered from thrombotic disease. Here, we describe a pedigree including both heterozygous and homozygous subjects for prothrombin (PT) 20210 A. DESIGN AND methods: This family was recruited in 1996 as part of our gait (Genetic Analysis of Idiopathic thrombophilia) project. To qualify for the gait study, a pedigree was required to have at least 10 living individuals in three or more generations (i.e. extended pedigree). The pedigrees were selected through probands with idiopathic thrombophilia. A complete set of plasma and dna determinations related to hemostasis was performed on this family. RESULTS: The plasma studies yielded normal results in all of the individuals. The family members who had a history of thromboembolism were heterozygous carriers of the PT 20210 A variant. In addition, 4 relatives who were heterozygous, and two who were homozygous for this A allele, failed to show clinical manifestations. These two homozygotes were 51 and 19 years old. INTERPRETATION AND CONCLUSIONS: This case exemplifies the complexity of thrombotic disease since individuals homozygous for a mutant gene do not exhibit symptoms while heterozygous individuals often do exhibit the disease. This case suggests that the new genetic risk factor for thrombosis (i.e. PT 20210 A) may not be as strong as most of the previously described genetic risk factors.- - - - - - - - - - ranking = 1keywords = thromboembolism (Clic here for more details about this article) |
2/27. Multicentric warfarin-induced skin necrosis complicating heparin-induced thrombocytopenia.Two patients developed catastrophic multicentric skin necrosis while receiving warfarin to treat venous thromboembolism complicated by immune-mediated heparin-induced thrombocytopenia (HIT). Patient 1 developed skin necrosis involving the breasts, thighs, and face, as well as venous limb gangrene and bilateral hemorrhagic necrosis of the adrenal glands, resulting in death. The second patient developed bilateral mammary necrosis necessitating mastectomies, as well as skin necrosis involving the thigh. Neither patient had an identifiable hypercoagulable syndrome, other than HIT. HIT may represent a risk factor for the development of multicentric warfarin-induced skin necrosis (WISN).- - - - - - - - - - ranking = 0.16666666666667keywords = thromboembolism (Clic here for more details about this article) |
3/27. Jugular vein thrombosis: a rare presentation of atypical chronic myeloproliferative disorder in a young woman.venous thromboembolism is common in subjects with chronic myeloproliferative disorders and is a recognized presenting feature of occult myeloproliferation. We report the case of a young woman who presented with acute thrombosis in the right jugular vein and pulmonary embolism. splenomegaly and myeloid proliferation with bone marrow fibrosis, in the absence of the criteria for typical myeloproliferative disorders, allowed a diagnosis of an atypical form of chronic myeloproliferative disorder. This form carries a high risk of thrombosis and venous thromboembolism can be the presenting feature, though the course is often indolent. Acute thrombosis in the right jugular vein has not been so far described in these subjects. The outcome of young people with myelofibrosis is unpredictable, but a normal level of hemoglobin and the absence of blast cells and constitutional symptoms at presentation identifies subjects with a low probability of rapid disease progression.- - - - - - - - - - ranking = 0.33333333333333keywords = thromboembolism (Clic here for more details about this article) |
4/27. Multiple arterial thromboembolisms in a patient with the 20210 A prothrombin gene mutation.The most recently characterized genetic defect contributing to venous thrombophilia is the 20210 A prothrombin gene mutation. We describe a patient with this defect who had arterial thrombosis resulting in considerable mesenteric ischemia. Several environmental factors, which might otherwise be considered of low thrombotic risk, may also have contributed to her condition. The recognition of the potential for novel presentations of hypercoagulable states may contribute to a reduction in the morbidity associated with acute mesenteric ischemia.- - - - - - - - - - ranking = 0.66666666666667keywords = thromboembolism (Clic here for more details about this article) |
5/27. Familial thrombophilia associated with fibrinogen paris V: Dusart syndrome.We report on a family with a history of venous thromboembolism associated with fibrinogen paris V (fibrinogen Aalpha-Arg554-->Cys). Ten members experienced thrombotic events, including 4 with fatal pulmonary emboli. pulmonary embolism was the presenting feature in 4. Those with the mutation and a history of thrombosis had somewhat higher fibrinogen concentrations than those with the mutation and no thrombosis (294 /- 70 mg/dL vs 217 /- 37 mg/dL, respectively). The paris V mutation consistently caused a prolongation of the reptilase time, and fibrin clots containing the abnormal fibrinogen were more translucent than normal clots. Given the early onset of symptoms and the initial presentation with pulmonary embolism in some family members, it was justifiable to offer prophylactic anticoagulation with warfarin to carriers of the mutation. fibrinogen paris V has now been reported in 4 apparently unrelated families, indicating that it is a relatively common cause of dysfibrinogenemia-associated thrombosis.- - - - - - - - - - ranking = 0.16666666666667keywords = thromboembolism (Clic here for more details about this article) |
6/27. budd-chiari syndrome: combination of genetic defects and the use of oral contraceptives leading to hypercoagulability.A young female, who had been in excellent health and had used third-generation oral contraceptives, was admitted to hospital because of abdominal pain and ascites. budd-chiari syndrome (BCS) was diagnosed by radiographic and histological examination. Tests for myeloproliferative disease, deficiency of coagulation inhibitors and paroxysmal nocturnal haemoglobinuria were negative. dna investigation showed a double heterozygous defect: the Arg506Gln mutation in the factor v gene (factor v Leiden) and G20210A nucleotide substitution in the prothrombin gene. This double defect was also found in the patient's father, who had never experienced an episode of venous thromboembolism. Genetic and acquired thrombogenic risk factors are being detected increasingly in patients with BCS. With the discovery of new genetic defects leading to hypercoagulabiulity an increasing number of patients with serious thrombotic manifestations, such as BCS, will exhibit concurrence of hereditary and acquired risk factors for thrombosis.- - - - - - - - - - ranking = 0.16666666666667keywords = thromboembolism (Clic here for more details about this article) |
7/27. A case of pulmonary thromboembolism in thalassemia intermedia: are these patients at risk for thrombotic events?We describe a case of pulmonary thromboembolism in a 48-year-old woman with thalassemia intermedia and no other risk factors. Multiple bilateral defects were detected by perfusion lung scan. No sources of emboli were detected, despite extensive evaluation. We suggest that a chronic hypercoagulable state due to multiple coagulation alterations might be a cause of thromboembolic events in thalassemia intermedia patients, even when no other risk factors are present.- - - - - - - - - - ranking = 0.83333333333333keywords = thromboembolism (Clic here for more details about this article) |
8/27. venous thromboembolism in young patients from western india: a study.The goal of this article is to study the association of known markers of thrombophilia with venous thrombosis in young patients (< 45 years) from the Western part of india. A prospective study of 432 patients (252 males and 180 females, age 1-45 years) was conducted between 1994 and 2000 (6 years). The diagnosis was confirmed in all the patients by ultrasound with Doppler or by a computed tomograph (CT) scan of the brain with or without contrast depending on the case. Detailed clinical examination, and family history was taken to establish recurrent thrombosis and familial occurrence of thrombosis. The markers studied were protein c, protein S, antithrombin (AT) III, factor v Leiden mutation, prothrombin gene G20210A polymorphism, and the thermolabile MTHFR variant C677T polymorphism, using appropriate techniques. Lupus inhibitor was tested in the first 72 patients using Dilute Russel Viper Venom time (DRVVT) test, and anticardiolipin antibodies were tested by enzyme-linked immunosorbent assay. protein c, protein S, and AT III deficiency was detected in 9.5%, 6.5%, and 2.6%, respectively, among the patients. Anticardiolipin antibody was present in 9.9% of the patients, whereas lupus anticoagulant was present in 8.3% of patients; factor v Leiden mutation was detected in 3% of patients; thermolabile variant of MTHFR C677T polymorphism was present in 14.9% of patients with 1.2% homozygotes. prothrombin G20210A polymorphism was not detected in any sample in this population. One hundred and four patients of 432 (24.9%) had recurrent attacks of thrombosis without any proximate precipitating cause, whereas 7.5 % of the patients had another close member of the family with a history of deep venous thrombosis. Eighty-six members from 28 families (out of 32 families giving family history of thrombosis) were investigated and found to have protein c and protein S deficiency in seven each; factor v Leiden was present in 6, and MTHFR C677T polymorphism was present in 5 cases. Hence, 25 of 86 members (28%) from the family of patients with familial history deep venous thrombosis had positive markers for thrombophilia. Thus, we could show that in young patients presenting with thrombosis, at least 34% of them had a demonstrable cause for thrombophilia. prothrombin gene polymorphism G20210A seems to be nonexistent in our population and AT III deficiency also appears to be low compared to other markers of thrombophilia. There is a high prevalence of variant MTHFR C677T in our series, but the incidence of MTHFR C677T in our general population is also high. Hence, the significance of this finding in our cases of deep venous thrombosis remains to be seen, but we did not see any homozygotes when we tested 70 randomly selected asymptomatic persons, whereas in the present series, 1.8% of the patients had homozygosity for the MTHFR C677T polymorphism.- - - - - - - - - - ranking = 0.66666666666667keywords = thromboembolism (Clic here for more details about this article) |
9/27. pulmonary embolism following tonsillectomy.Acute post-operative pulmonary embolism is a serious potentially life-threatening complication which is not anticipated in young patients undergoing non-major surgery. We report a case in which a 32-year-old previously healthy woman developed a major pulmonary embolism following tonsillectomy. Subsequent investigations revealed the presence of an occult malignancy. This case highlights the role of paraneoplastic hypercoagulable states in the aetiology of venous thromboembolism and the importance of thromboprophylaxis in the presence of confirmed or suspected malignancy. To our knowledge no case of major pulmonary embolism occurring after tonsillectomy has been previously reported.- - - - - - - - - - ranking = 0.16666666666667keywords = thromboembolism (Clic here for more details about this article) |
10/27. warfarin-induced skin necrosis associated with factor v Leiden and protein s deficiency.Thrombotic events are rare complications during anticoagulation therapy. The thrombosis varies from localized cutaneous involvement to catastrophic thromboembolism and is usually associated with an underlying thrombophilia. We describe a patient who developed skin necrosis during warfarin treatment for a pulmonary thromboembolism. The management was complicated by the development of heparin-induced thrombocytopenia and further thrombotic events. thrombophilia screen demonstrated the presence of protein s deficiency and factor v Leiden as the prothrombotic factors, together with the demonstration of antiplatelet factor 4 antibodies, which confirms the diagnosis of heparin-induced thrombocytopenia (type II). Reinstitution of warfarin at a low loading dose was successful without the recurrence of skin lesions nor any further thrombosis.- - - - - - - - - - ranking = 0.33333333333333keywords = thromboembolism (Clic here for more details about this article) |
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