Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly

Debus, O.; Koch, Hans Georg; Kurlemann, Gerhard; Sträter, Ronald; Vielhaber, H.; Weber, Peter; Nowak‐Göttl, Ulrike

doi:10.1136/fn.78.2.f121

Cited by 89 publications

(70 citation statements)

References 34 publications

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“…23,38,39 The heterozygous FV G1691A genotype and protein C deficiency were found in another 6 cases. The heterozygous FV gene mutation has recently been suggested to be an important risk factor for childhood antenatal porencephaly 15 and is associated with a significant OR of 3.95 in neonatal stroke patients. The results reported from this subgroup analysis are in clear contrast to data published by Zenz et al 20 and McColl et al 22 This discrepancy is due mainly to the small number of investigated cases and the different study designs, and it underlines the need for larger subgroup analyses in childhood patients as well.…”

Section: Discussionmentioning

confidence: 99%

“…Results of available studies differ, mainly because of differences in the study populations, age groups, or study designs. [15][16][17][18][19][20][21][22][23][24][25] Very recently, we have shown that an increased Lp(a) level, the FV G1691A mutation, the PT 20210A allele, and the homozygous C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene are significant risk factors for spontaneous stroke in childhood. 23 That study, however, did not include neonatal and child patients with additional acquired risk factors.…”

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confidence: 99%

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Symptomatic Ischemic Stroke in Full-Term Neonates

Günther

Junker²,

Sträter³

et al. 2000

Stroke

273

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Symptomatic Ischemic Stroke in Full-Term Neonates

Günther

Junker²,

Sträter³

et al. 2000

Stroke

273

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“…109,131,132 Congenital protein C deficiency, protein S deficiency, factor V Leiden mutation, and increased lipoprotein (a) have all been reported in newborns and children with perinatal infarction. 104,133,134 Acquired conditions are more frequent and include the presence of transplacentally derived maternal antiphospholipid antibodies (anticardiolipin antibodies, lupus anticoagulant) 135,136 and acquired deficiencies of protein C, protein S, AT, and activated protein C resistance.…”

Section: Complications Of Svtmentioning

confidence: 99%

Thromboembolic Disease and Antithrombotic Therapy in Newborns

Andrew¹,

Monagle²,

deVeber³

et al. 2001

Hematology

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This update uses an evidence based approach to analyze and present the epidemiology of neonatal thrombosis, etiologies, currently used techniques for diagnosis with their limitations, and current therapeutic approaches. In addition, the approaches to both prevention and optimal therapies are discussed.In Section I Dr. Paul Monagle addresses the epidemiology of neonatal thrombosis outside of the central nervous system in both arterial and venous locations, and those that occur in utero. The specific contributions of catheters and congenital prothrombotic disorders are delineated. Dr. Monagle also describes currently used techniques for the diagnosis of thrombotic events as well as their limitations and the current therapeutic approaches.In Section II, Dr. Gabrielle deVeber reviews the epidemiology of neonatal thrombosis within the central nervous system, in both arterial and venous locations and those that occur in utero. The neurological presentation, risk factors including congenital prothrombotic disorders, anatomical distribution, diagnostic tests, use of antithrombotic therapy and neurologic outcome of neonates with either sinovenous thrombosis or arterial ischemic stroke are discussed.In Section III, Dr. Anthony Chan reviews the current approaches to the prevention and treatment of neonatal thrombosis. Information on the differences in the response of neonates compared to adults to antithrombotic therapy and new approaches to the prevention and treatment of thrombosis in neonates are emphasized.Thromboembolic events (TEs) during childhood are increasing in their frequency and severity, and occur in children surviving previously life-threatening primary diseases. Newborns comprise the largest group of children developing TEs. This paper discusses the epidemiology, diagnostic tests, acquired and congenital prothrombotic risk factors, long-term outcomes, and antithrombotic therapy for the management of TEs in newborns. Due to the unique features and the significance of TEs in the central nervous system (CNS), sinovenous thrombosis (SVT) and arterial ischemic stroke (AIS) will be considered separately; cerebrovascular lesions in premature infants will not be discussed.In preparation for this manuscript, comprehensive Medline reviews were performed to identify all relevant publications, which were analyzed based upon the study design; results of studies with stronger designs were given more influence in the analysis. The striking features of this review were the deficiencies in our knowledge with respect to appropriate diagnostic strategies, optimal therapy for newborns with TEs, and the contribution of congenital prothrombotic disorders. Well-designed trials are required to improve our ability to care for neonates with TEs.

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“…Being a commonly performed genetic test with established population prevalence makes previous reports of much higher than expected rates seem significant. [29][30][31][32] As a constant genetic factor present from birth, FVL also avoids potentially complicating, confounding issues of neonatal versus childhood testing and developmental hemostasis. However, our results demonstrated rates of FVL (as well as prothrombin gene mutations) comparable to those in the general population.…”

Section: Discussionmentioning

confidence: 99%

Thrombophilia risk is not increased in children after perinatal stroke

Curtis

Mineyko

Massicotte

et al. 2017

Blood

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Key Points• Thrombophilia in children with perinatal stroke is rare, with rates similar to those in the normal population.• Routine testing in childhood is not indicated.Perinatal stroke causes cerebral palsy and lifelong disability. Specific diseases are definable, but mechanisms are poorly understood. Evidence suggests possible associations between arterial perinatal stroke and prothrombotic disorders, but population-based, controlled, disease-specific studies are limited. Understanding thrombophilia in perinatal stroke informs pathogenesis models and clinical management.We conducted a population-based, prospective, case-control study to determine the association of specific perinatal stroke diseases with known thrombophilias. Children with idiopathic magnetic resonance imaging-classified neonatal arterial ischemic stroke (NAIS), arterial presumed perinatal ischemic stroke (APPIS), or fetal periventricular venous infarction (PVI) were recruited. Standardized thrombophilia evaluations were performed after 12 months of age on stroke cases and controls, including quantified proteins C and S, antithrombin, factors VIII/IX/XI, fibrinogen, lipoprotein(a), homocysteine, lupus anticoagulant, anticardiolipin antibodies and genotyping of factor V Leiden (FVL), factor II G20210A (FII), and methylenetetrahydrofolate reductase C677T. A total of 212 children were studied: 46 with NAIS, 34 with APPIS, 55 with PVI, and 77 controls (male, 53%; median age, 4.8 years). Of 14 parameters, no differences were observed in 12, including all common thrombophilias. Mean prothrombin time was shorter in arterial strokes (P < .001). Rates of antiphospholipid antibodies were low, comparable to those in controls, and resolved on repeat testing. FVL and FII rates were comparable to population norms. Total number of possible abnormalities did not differ between cases and controls. Our prospective, population-based, controlled, disease-specific study suggests minimal association between perinatal stroke and thrombophilia. This does not exclude the possibility of disordered coagulation at the time of stroke but suggests testing in childhood is not indicated. (Blood. 2017;129(20):2793-2800 Medscape Continuing

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Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly

Cited by 89 publications

References 34 publications

Symptomatic Ischemic Stroke in Full-Term Neonates

Symptomatic Ischemic Stroke in Full-Term Neonates

Thromboembolic Disease and Antithrombotic Therapy in Newborns

Thrombophilia risk is not increased in children after perinatal stroke

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