Combined deficiency of proteins C and S: ischaemic stroke in young individuals
Munna Lal Patel1, Rekha Sachan, Ganesh Seth
1Department of Medicine, King George's Medical University, Lucknow, Uttar Pradesh, India.
Insights
A rare protein C and S deficiency caused a young man's ischemic stroke. This case highlights the importance of considering coagulation disorders in young stroke patients.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Ischemic stroke, often caused by blood clots, is a leading cause of death and disability globally.
- While common in older adults, stroke in young individuals presents a significant health challenge.
- Disorders of hypercoagulation are an uncommon cause of ischemic stroke, accounting for 1-8% of cases, particularly in younger populations.
Observation:
- A 25-year-old male presented with an acute ischemic stroke affecting the right middle cerebral artery territory.
- Diagnostic evaluation revealed a combined deficiency of protein C and protein S.
Findings:
- The patient's ischemic stroke was directly attributed to a hypercoagulable state resulting from protein C and S deficiency.
- This rare genetic condition predisposes individuals to abnormal blood clot formation.
Implications:
- This case underscores the necessity of investigating coagulation disorders, such as protein C and S deficiency, in young patients experiencing ischemic stroke.
- Early diagnosis and management of these deficiencies can potentially prevent recurrent cerebrovascular events.
- Highlights the importance of considering rare genetic factors in the etiology of stroke, even in the absence of traditional risk factors.
Abstract:
In adults of any age, the majority of strokes are ischaemic (caused by a blockage in the blood supply to the brain). Stroke in young individuals poses a major health problem. The WHO defines stroke as an event caused by the interruption of the blood supply to the brain, usually because of rupture of a blood vessel or blockage by a clot. This hampers the supply of oxygen and nutrients, causing damage to the brain tissue. Globally, stroke is the third commonest cause of mortality and the fourth leading cause of disease burden. Ischaemic stroke is the most common cerebrovascular disease, most often due to atherothrombotic diseases and uncommonly by disorders of hypercoagulation. Disorders of coagulation leading to thrombotic disorders are approximately 1% of all ischaemic strokes and 4-8% of strokes in young individuals. Similarly, combined deficiency of proteins C and S can lead to hypercoagulable state and rarely presents as a cerebrovascular accident. We describe here a case of a 25-year-old man who presented with right middle cerebral artery territory infarct due to protein C and S deficiency.
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