Cases reported "Hyperhomocysteinemia"

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1/10. Fatal pulmonary artery thrombosis in a patient with Behcet's disease, activated protein c resistance and hyperhomocystinemia.

    Behcet's disease (BD) is known for its tendency for thromboembolism, which is thought to be due to vascular injury. The important role of inherited thrombophilias is now becoming increasingly clear. However, conflicting data exist in terms of the contribution of these factors to the thrombotic risk in BD. In this case report, we describe a patient with BD who presented with severe cor pulmonale due to recurrent chronic venous thromboembolism and pulmonary artery thrombosis. The biochemical evaluation revealed that the patient was homozygotic for the factor v Leiden (R506Q) mutation and had increased levels of homocysteine. His condition deteriorated despite adequate anticoagulation treatment, and he died suddenly after 7 months of follow-up. We assume that the presence of thrombophilic risk factors augments and synergizes with the hypercoagulable state already existing in BD, leading to fatal thrombosis in this patient.
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ranking = 1
keywords = thromboembolism, embolism
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2/10. Acute renal vein thrombosis, oral contraceptive use, and hyperhomocysteinemia.

    Oral contraceptive use and hyperhomocysteinemia are considered to be relatively weak risk factors for venous thromboembolism. We report a case of acute renal vein thrombosis, a rare and aggressive form of thromboembolism, that occurred in a 21-year-old woman taking oral contraceptives, who was subsequently found to have marked hyperhomocysteinemia. This case suggests that the oral contraceptive and hyperhomocysteinemia may interact in a synergistic manner in the pathogenesis of thrombosis. In oral contraceptive users who develop venous thrombosis in the absence of other risk factors, clinicians should consider investigations for an underlying prothrombotic biochemical disorder.
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ranking = 1
keywords = thromboembolism, embolism
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3/10. Cutaneous necrosis revealing the coexistence of an antiphospholipid syndrome with acquired protein s deficiency, factor v Leiden and hyperhomocysteinemia.

    We report an exceptional case of cutaneous necrosis due to the coexistence of 4 thrombophilic factors, inherited and acquired. We would like to draw attention to these unrecognized associations. CASE REPORT: A 72-year-old woman was admitted with a 5 month history of necrotic nonhealing, painful ulcer of both legs and recently a purple toe. She had a history of 3 deep venous thromboses of the leg complicated by pulmonary embolism. A skin biopsy of the ulcer and purple toe showed only thrombosis in the dermal vessel. Laboratory findings showed a circulating lupus anticoagulant, positive anticardiolipin antibodies, antinuclear antibodies (1/320 dilution) and an anti Sm. Moreover, activated protein c resistance associated with factor v Leiden mutation and hyperhomocysteinemia was found; protein S was transiently low. With iloprost, oral anticoagulant, vitamin B12 and folic acid, the evolution was good, with healing of ulcer. COMMENTS: cutaneous necrosis can reveal hypercoagulable states, sometimes complex. We find 4 thrombophilic factors in our case, i.e. antiphospholipid antibodies, factor v Leiden, protein s deficiency and hyperhomocysteinemia. This is exceptional but highlights the role of several constitutional and acquired thrombophilic factors in the genesis of thrombosis. Extended protein C pathway disturbances could explain the mechanism that leads to cutaneous necrosis, in this patient, with an antiphospholipid syndrome. This case shows that it is necessary in some circumstances to make a complete hemostatic laboratory search to detect several thrombophilic factors. If they are present they can justify an oral anticoagulant treatment and a familial screening.
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ranking = 0.44540850052707
keywords = pulmonary embolism, embolism
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4/10. pulmonary embolism in a patient with pernicious anemia and hyperhomocysteinemia.

    We report the case of a 60-year-old woman with a history of ataxia who sought evaluation after a syncopal episode. A diagnostic workup revealed pulmonary emboli, pernicious anemia (PA), hyperhomocysteinemia, and a G20210A prothrombin gene mutation. She was successfully treated with homocysteine-lowering therapy, including high doses of oral cobalamin. She also received oral anticoagulation for 6 months. At 1 year of follow-up, no further thrombotic episodes had occurred. Our report highlights the thrombotic risk of hyperhomocysteinemia secondary to PA in a patient with the G20210A prothrombin gene mutation.
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ranking = 0.064194878738333
keywords = embolism
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5/10. Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult.

    Deficiency in methylenetetrahydrofolate reductase (MTHFR), the enzyme involved in the remethylation of homocysteine to methionine using methyltetrahydrofolate as cofactor, induces hyperhomocysteinaemia, homocysteinuria, hypomethioninaemia and low methylfolate levels. diagnosis usually occurs during infancy because of various neurological abnormalities. We report MTHFR deficiency diagnosed in an adult woman after a pulmonary embolism. Her adult sister, intellectually retarded, suffered from the same disease. Molecular analysis of the MTHFR gene exhibited four different mutations (two missense mutations, one exon skipping and C677T). The impact of these mutations was analysed through the biological abnormalities in the parents and children.
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ranking = 2.2270425026354
keywords = pulmonary embolism, embolism
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6/10. stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.

    BACKGROUND: Although hyperhomocyst(e)inemia (Hyper-Hcy) may predispose to atherosclerosis and venous thrombosis, the mechanisms of stroke associated with Hyper-Hcy are not defined. methods: Clinical and biochemical phenotypes and genetic features of three unrelated patients with premature stroke and severe Hyper-Hcy due to cystathionine beta-synthase (CBS) deficiency are described. plasma Hcy and amino acids were measured by fluorescence polarization immune assay and ion exchange chromatography. Analysis of the CBS and methylenetetrahydrofolate reductase genes was performed by restriction enzyme digestion and sequence analysis. RESULTS: Two of the three index cases had no known diagnosis of homocystinuria and initially presented with embolic cerebral and retinal infarction in mid-adulthood. Mechanisms of cerebrovascular disease were carotid intraluminal thrombosis, arterial dissection, and possible cardiac embolism. family screening revealed additional members with clinically silent homocystinuria and severe Hyper-Hcy. Excluding tall stature in two individuals, all had mild phenotypes, without classic findings of CBS deficiency. plasma total and free Hcy, methionine, and urine Hcy were elevated. Genotyping revealed heterozygous CBS mutations (I278T, D444N, G307S) in affected individuals. CONCLUSION: Artery-to-artery embolism and dissection may cause stroke in young adults with homocystinuria. The results also support a rationale for screening for Hyper-Hcy in young adults with stroke without a phenotype suggestive of classic homocystinuria.
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ranking = 0.032097439369166
keywords = embolism
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7/10. hyperhomocysteinemia masquerading as pulmonary embolism.

    We describe a 30-year-old male who presented with acute onset of breathlessness, tachycardia, and palpitations associated with distension of jugular vein and clear lungs on physical examination. The chest X-ray was normal and ECG was showing S1Q3T3 and right ventricular strain pattern. His 2-D echocardiography was showing dilated right atrium, right ventricular dilatation and moderate pulmonary arterial hypertension. He was found to have thrombosis involving left side of deep venous system with normal superficial venous system (Doppler proved). All routine blood investigations for etiology of recurrent DVT were normal except serum homocyteine level, which was significantly raised. Megaloblastic anemia on peripheral smear and hyperhomocysteinemia prompted us to search for its cause, which was subsequently found to be vitamin B12 deficiency. Such an association of megaloblastic anemia due to vitamin B12 deficiency leading to hyperhomocysteinemia and subsequent thrombosis in left venous system presenting as acute pulmonary embolism has not been described earlier in the medical literature.
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ranking = 2.2270425026354
keywords = pulmonary embolism, embolism
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8/10. Risk-factor profile in severe, generalized, obliterating vascular disease.

    A 74-year-old woman had a history over 25 years of endarterectomy of both renal arteries, iliac venous thrombosis, pulmonary embolism, left internal carotid artery endarterectomy, coronary angioplasty, aortocoronary bypass grafting, occlusion of the right axillary artery, lower-limb claudication due to common iliac artery aneurysm, external iliac artery stenosis, multiple femoral artery stenoses, bifurcational stent grafting, occlusion of the left brachial artery and the right external iliac artery, and stroke. Assessment of the risk-factor profile revealed an absence of classic risk factors but the presence of the factor v Leiden mutation, the methylenetetrahydrofolate reductase AI298C mutation, the HFE C282Y mutation, plasminogen activator inhibitor-1 gene mutation, the -455 G/A fibrinogen gene polymorphism, the epsilon3/epsilon4 apolipoprotein E -675 4G gene polymorphism, and hyperhomocysteinemia. This case shows that severe, generalized, occlusive vascular disease may be due to the combination of various genetic risk factors for atherosclerosis and venous thromboembolism.
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ranking = 0.94540850052707
keywords = thromboembolism, pulmonary embolism, embolism
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9/10. pulmonary embolism at high altitude and hyperhomocysteinemia.

    This case report describes pulmonary embolism in a patient as a complication of extended stay at high altitude. He also had increased plasma homocysteine levels. Hypercoagulability at high altitude along with hyperhomocysteinemia is a risk factor for arterial and venous thrombosis.
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ranking = 0.5096033792654
keywords = pulmonary embolism, embolism
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10/10. Aortic thrombus and pulmonary embolism in a patient with hyperhomocysteinemia.

    BACKGROUND: A 32-year-old man presented at hospital with persistent pain, hypothermia and paraesthesia in his right leg, caused by embolic occlusion of all three large arteries as a result of massive thrombi in the abdominal aorta. Previously, the patient had been diagnosed with pulmonary embolism and admitted at least a 6-month history of alcohol abuse. Laboratory assessment of the patient's lipid levels, platelet function and coagulation factors yielded normal results. Duplex ultrasound revealed substantial media thickening of the carotid and femoral arteries, without evidence of calcification. Further laboratory tests revealed elevated plasma levels of homocysteine, asymmetric dimethylarginine, symmetric dimethylarginine and 8-isoprostaglandin F2alpha. INVESTIGATIONS: physical examination, laboratory analyses, bronchoscopy, duplex ultrasonography, CT scan and CT angiography. diagnosis: Severe hyperhomocysteinemia associated with acute aortic thrombi and peripheral emboli. MANAGEMENT: diet supplementation with folic acid, vitamin B6 and vitamin B12, low-molecular-weight heparin and L-arginine.
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ranking = 2.2270425026354
keywords = pulmonary embolism, embolism
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