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1/32. factor v Leiden and antibodies against phospholipids and protein S in a young woman with recurrent thromboses and abortion.

    We describe the case of a 39-year-old woman who suffered two iliofemoral venous thromboses, a cerebral ischemic infarct and recurrent fetal loss. Initial studies showed high levels of antiphospholipid antibodies (APAs) and a moderate thrombocytopenia. After her second miscarriage, laboratory diagnosis revealed that the woman was heterozygous for the factor v Leiden mutation and had a functional protein s deficiency as well as anti-protein S and anti-beta 2-glycoprotein i antibodies. The impairment of the protein C pathway at various points could well explain the recurrent thromboses in the patient and supports the role of a disturbed protein C system in the pathophysiology of thrombosis in patients with APAs.
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ranking = 1
keywords = thrombosis
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2/32. prothrombin gene variant (G20210A) in a patient with cerebral venous sinus thrombosis.

    We describe a 33-year-old woman, who presented with lowered consciousness level and seizures, due to cerebral venous sinus thrombosis with venous haemorrhagic infarcts. The patient. who was taking oral contraceptives, appeared to be heterozygous for a prothrombin gene variant, which is due to a G-->A transition at position 20210. This 20210A prothrombin has recently been established as an important risk factor for cerebral venous sinus thrombosis, which interacts with oral contraceptive use.
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ranking = 6
keywords = thrombosis
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3/32. superior sagittal sinus and cerebral cortical venous thrombosis caused by congenital protein c deficiency--case report.

    A 47-year-old male receiving anticoagulant therapy for thrombophlebitis in the left leg for several years presented with mild left hemiparesis and ipsilateral hypesthesia. The cause of the thrombophlebitis was still unknown. Magnetic resonance (MR) imaging showed subacute thrombosis of both the superior sagittal sinus (SSS) and a cortical vein in the right cerebral hemisphere. Fluid attenuation inversion recovery axial MR imaging demonstrated these lesions more obviously than conventional T2-weighted axial MR imaging. Right carotid angiography showed a partial SSS filling defect and occlusion of the cortical vein with collateral circulation. Coagulation studies revealed decreases in both protein C activity and antigen levels with normal levels of blood coagulation factors II, VII, IX, and X and protein S activity and antigen. The patient's mother had normal levels of both protein C activity and antigen, but his father had decreased levels. The diagnosis was SSS and cerebral cortical venous thrombosis caused by congenital protein c deficiency. The patient was treated conservatively, and his clinical course was uneventful. His neurological dysfunctions recovered within approximately 3 weeks after the onset. Ten months later, right carotid angiography showed recanalization of the SSS and partial filling of the cortical vein. Anticoagulant therapy has been continued, and no cerebral venous thrombosis has recurred during the 1.5 years after the onset.
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ranking = 8.1710945599279
keywords = thrombosis, venous thrombosis, vein
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4/32. Recurrent leg ulcers and arterial thrombosis in a 33-year-old homozygous variant of antithrombin.

    We report here a homozygous variant case of antithrombin (AT) associated with arterial thrombosis and recurrent leg ulcers. The deep vein thrombosis was recognized by the venogram of his pelvic veins. His leg ulcers were scattered around his left ankle and accompanied by lipodermatosclerosis, which was evident in venous insufficiency. The propositus had developed cerebral infarction 12 years prior to his leg ulcers. Coagulation study showed low heparin cofactor activity of his AT with a normal level of immunoreactive AT. Nucleotide sequence analysis of the exon 2 of his AT gene showed Arg47-Cys mutation, leading to the lack of affinity of AT for heparin. The propositus is a homozygote for this abnormality.
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ranking = 6.1131973101867
keywords = thrombosis, vein thrombosis, vein, deep
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5/32. Renal vein thrombosis in a newborn with prothrombotic genetic risk factors.

    Environmental and genetic risk factors interact to cause venous thromboembolism. Renal vein thrombosis in the newborn has been frequently associated with "risk factors" as catheters, surgery or trauma, but it has also been demonstrated a pathogenetic role of genetic prothrombotic risk factors, i.e. activated protein c resistance and FV Leiden. The treatment of neonatal venous thrombosis varies worldwide and different approaches have been proposed. We present a case of renal vein thrombosis in a female newborn with normal plasma levels of protein C, protein S and antithrombin iii, but with her genotype characterized by the presence of three prothrombotic risk factors: factor v Leiden, methylentetrahydrofolate reductase and platelet glycoprotein IIIa polymorphisms. The treatment with recombinant tissue plasminogen determined complete thrombus dissolution.
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ranking = 7.842438652647
keywords = thrombosis, venous thrombosis, vein thrombosis, vein
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6/32. factor v Leiden and prothrombin G20210A in relation to arterial and/or vein rethrombosis: two cases.

    The factor v Leiden (FV Leiden) and prothrombin G20210A mutations, are the most common established genetic risk factors for deep vein thrombosis (DVT). However, the relationship between these mutations and arterial thrombotic syndromes (coronary heart disease, myocardial infarction, stroke) has not been established. Some studies have suggested a relationship between them, but other authors have considered it unlikely that these anomalies are a major risk factor for arterial thrombosis. From the clinical point of view, a question arises concerning the risk of repeated thrombosis in patients carrying one of these two mutations. The question is whether the recurrence is attributable to the mutations or to the presence of additional circumstantial risk factors. As the risk of repeated thrombosis varies considerably from one patient to another, decisions about long-term treatment require weighing the persistence of risk factors for vascular disease (venous and arterial), especially in selected cases such as young patients or patients with thrombosis of unusual localization.
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ranking = 9.124215574408
keywords = thrombosis, vein thrombosis, vein, deep
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7/32. Cerebral vein thrombosis and prothrombin gene (G20210A) mutation.

    Recently, prothrombin gene mutation G20210A has been associated with elevated thrombosis risk and rarely with cerebral vein thrombosis (CVT). Three patients are described who had this genetic predisposition and who developed CVT in an unusual constellation with other factors. In the first patient, the intake of valproic acid (VPA) may have played an aggravating role in the development of CVT; in the second patient diagnosis of coagulation disorder was made during pregnancy consultation 6 years after CVT; in the third patient the CVT occurred at the age of 78 years. In patients with CVT, coagulation-examinations should include tests for the prothrombin gene (G20210A) mutation.
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ranking = 6.5409105028022
keywords = thrombosis, vein thrombosis, vein
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8/32. pre-eclampsia: a predisposing factor for neonatal venous sinus thrombosis?

    Neonatal venous sinus thrombosis is a well-recognized, but infrequently diagnosed, cause of neonatal encephalopathy. Previous reports have tended to omit reference to the importance of maternal factors in predisposing the infant to this condition. This report, in which eight patients with neonatal venous sinus thrombosis are presented, will reveal a strong association between pre-eclampsia, prothrombotic disorders, and neonatal venous sinus thrombosis. Contrary to previously published reports, there is a high likelihood of neurodevelopmental residua after this condition.
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ranking = 7
keywords = thrombosis
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9/32. Coexistence of factor v G1691A and factor II G20210A gene mutations in a thrombotic family is associated with recurrence and early onset of venous thrombosis.

    Two G-to-A mutations at positions 1691 of the factor v (FV) gene and 20210 of the prothrombin (FII) gene have been associated with an increased risk of venous thromboembolism. We report a thrombosis-prone family in which one subject--the propositus who exhibited combined heterozygous FV G1691A and FII G20210A mutations--showed spontaneous and early clinical onset (at 23 years), recurrences of deep-vein thrombosis and pulmonary embolism. His asymptomatic father carried the FII G20210A substitution and his mother, characterized by an isolated thrombotic episode on occasion of surgery (at 48 years), carried the FV G1691A substitution. In the maternal lineage, one of the propositus' uncles had thrombosis on occasion of a bone fracture (at 65 years) despite the absence of known prothrombotic defects. A sister of the propositus carried the FII G20210A and the brother the FV G1691A mutation. They have been asymptomatic until now. The propositus' two children, 20 and 16 years old, both carry the FV G1691A substitution and have been asymptomatic until now. The plasma levels of FII were higher in carriers of the FII G20210A allele if compared with noncarriers, and the activated protein c resistance phenotype, associated with the FV Leiden mutation, showed a complete correlation with the FV G1691A mutation. Despite the very limited number of thrombotic cases involved in this survey, which does not allow statistically sound conclusions, the data obtained from this family suggest that the synergy of inherited factors and transient risk conditions could play a key role in the occurrence of thrombotic accidents.
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ranking = 7.882908752584
keywords = thrombosis, venous thrombosis, vein thrombosis, vein, deep
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10/32. Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism.

    We report 5 children from 3 families with homozygous antithrombin deficiency type II affecting the heparin binding site (99 Leu to Phe mutation). Four children had severe spontaneous thromboembolic events (deep leg or caval vein thrombosis, ischaemic stroke) at one week, 3 months, 13 and 14 years of age. The fifth patient, a 17 year-old boy was asymptomatic. Early manifestation of homozygous deficiency calls for prompt and accurate diagnosis. In doubtful cases genetic analysis is required. Long-term oral anticoagulation should be considered in affected individuals.
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ranking = 1.1095245554462
keywords = thrombosis, vein thrombosis, vein, deep
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