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Inherited protein C deficiency and nonhemorrhagic arterial stroke in young adults
M Camerlingo1, G Finazzi, L Casto
1Divisione di Neurologia 2a, Ospedali Riuniti, Bergamo, Italy.
Insights
Inherited protein C deficiency was found in three young adults with arterial stroke. This suggests screening for protein C deficiency in young stroke patients without typical risk factors.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Arterial stroke in young adults (<45 years) is uncommon.
- Identifying underlying causes is crucial for prevention and treatment.
- Inherited thrombophilias are potential contributors to ischemic events.
Purpose of the Study:
- To investigate the prevalence of inherited protein C deficiency in young adults presenting with nonhemorrhagic arterial stroke.
- To assess the clinical presentation and family history of affected individuals.
Main Methods:
- Retrospective analysis of 50 consecutive young patients (<45 years) with nonhemorrhagic arterial stroke.
- Clinical evaluation, computed tomography (CT) scans, and angiography were performed.
- Protein C levels were assessed, and other stroke causes were excluded.
Main Results:
- Three out of 50 young patients (6%) were diagnosed with inherited protein C deficiency.
- CT scans showed hypodense areas, and angiography revealed intracranial arterial occlusions.
- One patient had a history of transient ischemic attack and peripheral venous thrombosis; others were asymptomatic, as were their relatives.
Conclusions:
- Inherited protein C deficiency is a potential underlying cause of arterial ischemic stroke in young adults.
- Screening for protein C deficiency should be considered in young stroke patients, particularly when major risk factors are absent.
- Early diagnosis can inform management strategies and genetic counseling for affected families.
Abstract:
Out of a consecutive series of 50 young people less than 45 years old with nonhemorrhagic arterial stroke, three patients had inherited protein C deficiency. CT revealed hypodense areas consistent with the clinical picture, and angiography showed occlusion of some intracranial arterial vessels. Other possible associated causes of stroke were ruled out. One patient had a transient ischemic attack and a peripheral venous thrombosis prior to the actual stroke, whereas the others were completely asymptomatic, as were relatives with the same deficiency. We suggest determining protein C in ischemic stroke of all young adults, especially when major risk factors are excluded.