Role of investigating thrombophilic disorders in young stroke

Abstract

Our knowledge about various inherited and acquired causes of thrombophilic disorders has increased significantly during the past decade. Technology for various diagnostic tests for these rare disorders has matched the rapid advances in our understanding about the thrombophilic disorders. Inherited thrombophilic disorders predispose young patients for various venous or arterial thrombotic and thromboembolic episodes. Our understanding has also improved about various gene-gene and gene-environment interactions and their impact on the resultant heterogenous clinical manifestations. We describe various thrombophilic disorders, their diagnostic tests, pathogenic potential in isolation or with other concurrent inherited/acquired defects and possible therapeutic and prophylactic strategies. Better understanding, optimal diagnostic and screening protocols are expected to improve the diagnostic yield and help to reduce morbidity, disability, and mortality in relatively younger patients harbouring these inherited and acquired thrombophilic disorders.

Figure 1

A 27-year-old woman, without any vascular risk factors, presented with mild right-sided weakness of suddenonset. She was noted to have swelling and pain in the right leg. Duplex sonography revealed extensive deep vein thrombosis involving the popliteal as well as superficial femoral vein, as characteristic noncompressibility and echogenic mass in the venous lumen. (a) Computerized tomographic angiography of thorax revealed filling defect in the left pulmonary artery. (b) Transcranial Doppler ultrasonographic monitoring of left middle cerebral artery during the “bubble test” (injection of agitated 9 mL normal saline and 1 mL air) revealed numerous microembolic signals, (c) suggestive of a right-to-left shunt (patent foramen ovale). Multiple acute ischemic infarcts involving many arterial territories were evident on the diffusion-weighted magnetic resonance imaging of the brain. (d) Blood tests were positive for lupus anticoagulant and anticardiolipin antibodies.