High prevalence of inherited thrombophilia in ‘presumed peri‐neonatal’ ischemic stroke

Suppiej, Agnese; Franzoi, Malida; Gentilomo, Chiara; Battistella, Pier Antonio; Drigo, Paola; Gavasso, Sabrina; Laverda, Anna Maria; Simioni, Paolo

doi:10.1111/j.1600-0609.2007.00971.x

Cited by 34 publications

(19 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The association of arterial thrombosis with hereditary thrombophilia is a controversial issue [10][11][12]26]. Generally, routine thrombophilia screening is not recommended excluding some particular cases.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Risk factors for thrombophilia in young adults presenting with thrombosis

Yokuş

Albayrak²,

Balçık³

et al. 2009

Int J Hematol

View full text Add to dashboard Cite

The increased risk for thrombosis is known as hypercoagulability or thrombophilia. Here, we investigated risk factors for thrombophilia which were screened in young adult patients presenting with thrombotic events or with recurrent abortions with unknown etiology. A total of 115 patients aged between 16 and 50 years who were found to harbor thrombophilia were retrospectively evaluated. The laboratory investigations performed for the assessment of thrombophilia included protein C, protein S, antithrombin III deficiencies, activated protein C resistance, factor V Leiden (FVL), prothrombin 20210A (PT 20210) and methylenetetrahydrofolate reductase (MTHFR) gene mutations, factor VIII elevation, lupus anticoagulant and antiphospholipid antibodies (APA). In 66% of the cases a single thrombophilic defect was identified while some of the patients had combined thrombophilic defects. The most common thrombophilic defect was mutation in the MTHFR gene, and was followed by FVL mutation, the presence of APA and PT 20210 gene mutation, respectively. The patients were divided into two different age groups, 16-35 and 36-50 years, and arterial thrombosis was more common in the older age group. Our results indicated that some important thrombophilic defects such as gene mutations may appear in young adult patients presenting with thrombotic events.

show abstract

Section: Discussionmentioning

confidence: 99%

“…The risk for thrombosis increases in the presence of combined defects [2]. Today, we know that thrombophilia may also lead to arterial thromboses [10][11][12]. The prevalence and types of thrombophilic risk factors vary in different patient populations [4][5][6].…”

Section: Introductionmentioning

confidence: 99%

Risk factors for thrombophilia in young adults presenting with thrombosis

Yokuş

Albayrak²,

Balçık³

et al. 2009

Int J Hematol

View full text Add to dashboard Cite

show abstract

“…A recent study confi rms a high prevalence of inherited thrombophilia in neonatal stroke (Suppiej et al 2007). Heller and colleagues recommended that neonates with TE should undergo an extensive screening, including resistance to activated protein C (APC-R), protein C, protein S, and antithrombin activity, concentration of clottable fi brinogen, plasminogen activity, activities of coagulation factors VIIIC and XII, Lp(a), histidine-rich glycoprotein, heparin cofactor II, antiphospholipid antibodies, lupus anticoagulants, as well as fasting homocysteine concentrations.…”

Section: Congenital Thrombophiliamentioning

confidence: 98%

Thrombosis in the critically ill neonate: incidence, diagnosis, and management

Nold¹

2008

VHRM

View full text Add to dashboard Cite

Among children, newborn infants are most vulnerable to development of thrombosis and serious thromboembolic complications. Amongst newborns, those neonates who are critically ill, both term and preterm, are at greatest risk for developing symptomatic thromboembolic disease. The most important risk factors are infl ammation, DIC, impaired liver function, fl uctuations in cardiac output, and congenital heart disease, as well as exogenous risk factors such as central venous or arterial catheters. In most clinically symptomatic infants, diagnosis is made by ultrasound, venography, or CT or MRI angiograms. However, clinically asymptomatic vessel thrombosis is sometimes picked up by screening investigations or during routine imaging for other indications. Acute management of thrombosis and thromboembolism comprises a variety of approaches, including simple observation, treatment with unfractionated or low molecular weight heparin, as well as more aggressive interventions such as thrombolytic therapy or catheter-directed revascularization. Long-term follow-up is dependent on the underlying diagnosis. In the majority of infants, stabilization of the patients' general condition and hemodynamics, which allows removal of indwelling catheters, renders long-term anticoagulation superfl uous. Nevertheless, in certain types of congenital heart disease or inherited thrombophilia, long-term prophylaxis may be warranted. This review article focuses on pathophysiology, diagnosis, and acute and long-term management of thrombosis in critically ill term and preterm neonates.

show abstract

“…42 We did not explore previous suggestions of association between thrombophilia and adverse outcome, primarily for lack of recurrence in our population and no other rationale to associate blood clotting with outcome. 17,49 Several recently described thrombophilias potentially associated with stroke in children were not included in our panel, including plasminogen activator inhibitor-1 4G6755G, ADAMTS13, and plasma glutathione peroxidase. [50][51][52] Importantly, our study of specific, idiopathic perinatal stroke diseases does not exclude possible associations with other diseases (eg, cerebral sinovenous thrombosis) or major risk factors such as congenital heart disease.…”

Section: Discussionmentioning

confidence: 99%

“…Studies have been limited by absence of controls, retrospective design, highly selected and modestly powered samples, inconsistent laboratory methods, and heterogeneous populations combining those with less specific cerebral palsy or perinatal stroke without specific, MRIclassified stroke disease states. 16 Studies in presumed perinatal stroke (APPIS, PVI) have been even more limited, 5,6,17,18 with no diseasespecific, well-powered, case-control studies to date. A meta-analysis of thrombophilia in pediatric stroke was unable to examine perinatal populations, let alone each specific perinatal stroke disease in isolation.…”

Section: Introductionmentioning

confidence: 99%

Thrombophilia risk is not increased in children after perinatal stroke

Curtis

Mineyko

Massicotte

et al. 2017

Blood

View full text Add to dashboard Cite

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

show abstract

High prevalence of inherited thrombophilia in ‘presumed peri‐neonatal’ ischemic stroke

Cited by 34 publications

References 17 publications

Risk factors for thrombophilia in young adults presenting with thrombosis

Risk factors for thrombophilia in young adults presenting with thrombosis

Thrombosis in the critically ill neonate: incidence, diagnosis, and management

Thrombophilia risk is not increased in children after perinatal stroke

Contact Info

Product

Resources

About