Multiple Inherited Thrombophilias in a Young Patient with Striatocapsular Stroke

Sir,

The association between inherited thrombophilias and arterial acute ischemic stroke (AIS) has not been definitely established.[1] Coexistence of inherited thrombophilia with other prothrombotic conditions in cerebral vein thrombosis is not rare[2] and suggests a dose–response relationship. Whether the same thrombotic gradient risk applies to AIS is speculative. We present a case of a 46-year-old female, without any vascular risk factors, admitted to the hospital after wake-up onset of left-sided hemiparesis and hemihypesthesia. A striatocapsular ischemic stroke was documented on brain computed tomography (CT) [Figure 1]. Her mother had suffered an AIS of undetermined type (incomplete investigation) at the age of 60 years and her sister had suffered recurrent episodes of deep vein peripheral thromboembolism by the age of 26 years, in association with heterozygous factor V Leiden mutation. The extensive cerebrovascular investigation, including transesophageal echocardiography, Holter monitoring, cervical/intracranial Doppler, and cervical/intracerebral angio-CT, yielded negative results. The screen for thrombophilia performed at the National Reference Laboratory revealed the presence of heterozygous factor V G1691A (Leiden), methylenetetrahydrofolate reductase (MTHFR) C677T, and MTHFR A1298C polymorphisms. A clinical decision to start warfarin was made (INR 2–3). She recovered progressively and regained her previous activities (modified Rankin 0) 3 months after being discharged. Striatocapsular infarct is a distinct subgroup of subcortical stroke.[3] Our patient suffered a complete striatocapsular stroke, which, in the absence of middle cerebral artery disease, is most likely of embolic origin.[4] Although rarely considered to be causative of AIS in adults, hypocoagulation is considered as a valid treatment in the presence of thrombophilias.[5] The association between each of the thrombophilias found (when isolated) with AIS is weak.[16] However, we believe that the prothrombotic synergism caused by the simultaneous presence of three inherited thrombophilias most probably explains the occurrence of ischemic stroke in this young patient.

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Figure 1

(a-d) Brain computed tomography showing a comma-shaped (1C) right striatocapsular infarcts involving the caudate, anterior limb of internal capsule, and putamen

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