Hyperhomocysteinemia and Other Inherited Prothrombotic Conditions in Young Adults With a History of Ischemic Stroke

Madonna, Pasquale; Stefano, V. De; Coppola, Antonio; Cirillo, Federica; Cerbone, Anna Maria; Orefice, G; Minno, G. Di

doi:10.1161/hs0102.100483

Cited by 106 publications

(91 citation statements)

References 62 publications

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“…The TT mutation was more frequent in patients than in controls (6.6% versus 3.3%), but the difference was not statistically significant (P > 0.05, 2 test). Thus, our data support the widely held opinion that homozygosity for MTHFR TT variant is not a risk factor for ischemic stroke [2,10,[34][35][36].…”

Section: Discussionsupporting

confidence: 89%

“…This mutation has been shown to be the most prevalent hereditary cause of venous thrombosis [28]. However, the roles described for MTHFR in arterial vascular disease and particularly cerebrovascular disease are contradictory [2,16,17,21,[29][30][31][32][33]. Lopaciuk et al [17] from Poland reported that homozygosity for C677T mutation in the MTHFR gene is not associated with an increased risk for ischemic stroke.…”

Section: Discussionmentioning

confidence: 99%

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MTHFR C677T polymorphism and its relation to ischemic stroke in the Black Sea Turkish population

et al. 2004

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The MTHFR C677T mutation has been shown to be associated with venous thrombosis. The role of this mutation in ischemic stroke is unclear. We investigated whether the MTHFR mutation is a risk factor for patients with ischemic stroke in the Black Sea Turkish population or not. We analyzed 30 patients (19 male, 11 female) [median age: 50 years (range: 28-78)] with ischemic stroke who had no known predisposition factors for stroke and 242 (182 male, 60 female) healthy controls [median age: 42 years (range: 18-65)]. Detection of the MTHFR C677T mutation was performed by using commercially available allele-specific PCR-ELISA kits. Prevalence of the MTHFR C677T genotype was 49.1% (CT, 45.8%; TT, 3.3%) in controls and 50% (CT, 43.3%; TT, 6.6%) in patients [OR: 1.03, 95% CI (0.45-2.35]). The prevalence of homozygous gene mutation for MTHFR was higher among patients with stroke than control subjects, but this difference was not statistically significant. The MTHFR gene mutation is not a risk factor for ischemic stroke formation in patients from the Black

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

MTHFR C677T polymorphism and its relation to ischemic stroke in the Black Sea Turkish population

et al. 2004

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“…atrial fibrillation). In studies assessing the role of hereditary thrombophilia in the etiology of cerebral arterial and cerebral venous thrombosis (CAT, CVT), the risk for stroke was found to increase in the presence of different thrombophilic factors [9][10][11][12][13][14][15][16]. Hypercoagulable states are responsible for 5-10% of all IS cases, and hereditary thrombophilia is especially more common in the etiology of IS in the younger subgroup of patients [17].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis

Yokuş¹,

Balçık²,

Albayrak³

et al. 2010

Turk J Hematol

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Objective: The increased risk for thrombosis is known as hypercoagulability or thrombophilia. In our study, we aimed to determine the frequency of the identified defects for thrombophilia in patients with central venous thrombosis aged under 50 years and to compare results with the findings in the current literature. Materials and Methods: Forty-three patients (16-50 years old) were retrospectively evaluated. Thrombophilia investigation included determinations of protein C, protein S, antithrombin, and activated protein C resistance, factor V Leiden (FVL), prothrombin 20210A (PT 20210) and methylene tetrahydrofolate reductase (MTHFR) C677T mutations, antiphospholipid antibodies (APA), factor VIII levels, and homocysteine levels. Results: We detected a single thrombophilic defect in 67.4%, two defects in 27.9% and three defects in 4.7% of our patients. The most common thrombophilic defect was mutation in the MTHFR gene (41.8%), and this was followed by the FVL mutation (34.9%). Conclusion: Since the prevalence of individual thrombophilic defects varies in each population, ethnic group and geographical location, screening for thrombophilic defects in patients presenting with cerebral venous thrombosis should primarily investigate the most frequent thrombophilia risk factors. (Turk J Hematol 2010; 27: 162-7) Key words: Cerebral venous thrombosis, thrombophilia, thrombophilic defects Received: October 4, 2009 Accepted: March 22, 2010 Özet Amaç: Tromboz riskinin artması hiperkoagulabilite ya da trombofili olarak bilinmektedir. Çalışmamızda, serebral venöz tromboz gelişen ve trombofilik defekt saptanan 50 yaş ve altı hastalarımızda tespit edilen trombofilik defektleri, sıklığını değerlendirmek ve literatür bilgileriyle karşılaştırmak amaçlanmıştır.

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“…10,11 A meta-analysis of case^control and prospective studies indicated that moderate hyperhomocysteinaemia confers at least a 2.5-fold increased risk of stroke. 12 The MTHFR-677TT mutation is associated with raised plasma tHcy concentrations in children and is a risk factor for primary and secondary stroke and transient ischaemic attack. 13 One study in older patients showed a strong association between increasing plasma tHcy concentration and ischaemic stroke caused by atherosclerosis; paradoxically, no association was found with the MTHFR genotype.…”

Section: Discussionmentioning

confidence: 99%

“…folate intake) may be an important determinant of propensity to develop stroke events. 12 Experimental studies suggest that homocysteine promotes atherogenesis by facilitating oxidative arterial injury, damaging the vascular matrix and Normal reference ranges are given in parentheses. MTHFRˆmethylene tetrahydrofolate reductase; tHcyˆtotal homocysteine.…”

Section: Discussionmentioning

confidence: 99%

Hyperhomocysteinaemia in a young woman presenting with stroke, associated with methylene tetrahydrofolate reductase C677T homozygosity

Chaparro

Barron

2004

Ann Clin Biochem

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We present a case of ischaemic stroke in a 23-year-old woman, associated with homozygous methylene tetrahydrofolate reductase (MTHFR)-C677T and hyperhomocysteinaemia. Her other risk factors for stroke were ostium secundum atrial septal defect and use of oral contraceptives. This case illustrates the need to include plasma homocysteine (Hcy) measurement in investigations following stroke. In the presence of hyperhomocysteinaemia, the MTHFR genotype should be determined. If the index case has the polymorphism, then all rst-degree relatives should also be investigated by measurement of plasma Hcy and determination of MTHFR genotype. Ann Clin Biochem 2004; 41: 241-244 Case reportA 23-year-old Caucasian woman was admitted to hospital with sudden-onset history of speech loss and right-sided weakness. During the preceding 2 weeks she had felt unwell and had had word-¢nding di¤cul-ties. Past medical history included asthma, hay fever and umbilical hernia repair. She was taking a combined oral contraceptive (Eugynon 30) therapy and a salbutamol inhaler. Her paternal grandfather and maternal grandmother had had strokes at ages 65 and 80 years, respectively. A maternal aunt had had folate de¢ciency.On clinical examination, blood pressure was 120/ 60 mmHg, pulse was regular at 80/min and the Glasgow coma scale was 10/15. Power was abolished in the right arm and decreased in the right leg, in keeping with the diagnosis of cerebrovascular accident.Full haematological (including thrombophilia screen), immunological and biochemical laboratory investigations were all within normal limits, except for plasma total homocysteine concentration (tHcy), which was measured on day 2 of admission and was elevated to 46.3 mmol/L (normal range 5^15), with normal plasma cysteine and methionine concentrations. Urine homocysteine concentration and organic acid screen were normal.Carotid doppler ultrasound was normal. Brain magnetic resonance imaging (MRI) showed a left middle cerebral artery (MCA) infarct, and a thrombus was observed within the left MCA on magnetic resonance angiography.Once oral intake was considered safe, therapy with aspirin (300 mg/day) and dipyridamole (200 mg twice daily) was initiated. On day 14, after samples were taken for serum folate, vitamin B12 and vitamin B6 concentrations, the patient was commenced on folate 5 mg, cyanocobalamin 50 mg and pyridoxine 50 mg, all daily. Table 1 shows baseline and subsequent measurements of homocysteine, folate, vitamin B12 and vitamin B6 concentrations. The patient was discharged after 21 days of hospitalization.An ostium secundum atrial septal defect was diagnosed on transoesophageal echocardiography 40 days later. Closure of the foramen ovale was performed 8 months later and aspirin 150 mg/day and clopidogrel 75 mg/day prescribed. The patient and her ¢rst-degree relatives were investigated for methylene tetrahydrofolate reductase (MTHFR)-C677T polymorphism. The patient, her mother and two sisters were all homozygous and her father was heterozygous. In one sister plasma tH...

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Hyperhomocysteinemia and Other Inherited Prothrombotic Conditions in Young Adults With a History of Ischemic Stroke

Cited by 106 publications

References 62 publications

MTHFR C677T polymorphism and its relation to ischemic stroke in the Black Sea Turkish population

MTHFR C677T polymorphism and its relation to ischemic stroke in the Black Sea Turkish population

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis

Hyperhomocysteinaemia in a young woman presenting with stroke, associated with methylene tetrahydrofolate reductase C677T homozygosity

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