Thrombophilia and Pediatric Stroke

Abstract

Thrombophilia refers to a systemic predisposition to thrombosis, including stroke. Thrombophilia may be genetic (eg, factor V Leiden) or acquired (eg, antiphospholipid antibodies). Approximately 60% of thrombosis risk is attributable to genetic factors.1 Thrombosis is a disease for which there is a relatively well-defined management strategy in adults but less so in children. Thrombophilia is not a disease but a susceptibility to thrombosis, and its management strategy is less well defined in adults and not at all defined in children. Currently, the role of thrombophilia in pediatric stroke is poorly characterized. Article see p 1838 The extensive published literature on stroke in adult patients cannot be assumed to apply to children because common underlying mechanisms of adult stroke, such as atherosclerosis, hypertension, smoking, atrial fibrillation, and diabetes mellitus, are infrequently involved in pediatric stroke. Known underlying mechanisms of pediatric stroke include perinatal placental thromboembolic events through a physiologically patent foramen ovale, congenital heart disease, sickle cell disease, arterial dissection, trauma, infection, inflammation, immobilization, dehydration, metabolic syndromes, moyamoya, and vasculitis. An increasing number of large pediatric centers now have dedicated multidisciplinary stroke services, which include neurology, hematology, neuroradiology, interventional radiology, neurosurgery, and physical, occupational, and speech therapists. Stroke as a diagnosis should be restricted to patients with cerebral infarction (see Figure, top). Multiple additional conditions with predisposition to stroke or cerebral vasculopathy may also be seen by these multidisciplinary groups, including cerebral sinovenous thrombosis (CSVT) (see Figure, bottom), moyamoya, vasculitis, transient ischemic attacks, complex migraine, and nontraumatic intracranial hemorrhage. Figure. AIS (top) and CSVT (bottom). Top left, Magnetic resonance angiogram. Top right, Axial T2 magnetic resonance image. Bottom left, Sagittal T1 magnetic resonance image. Bottom right, Time-of-flight magnetic resonance venography. Arrows highlight abnormalities. The incidence of pediatric arterial ischemic stroke (AIS) …