What is the diagnostic workup for a young person with a cerebrovascular accident (CVA) or stroke?

From the Guidelines

The diagnostic workup for a young person with a cerebrovascular accident (CVA) or stroke should include brain imaging (CT or MRI), vascular imaging with CT angiography or MR angiography, cardiac evaluation with echocardiogram and prolonged cardiac monitoring, and laboratory testing for hypercoagulable states and other risk factors, as recommended by the 2021 guideline for the prevention of stroke in patients with stroke and transient ischemic attack 1.

Key Components of the Diagnostic Workup

• Brain imaging: CT or MRI to confirm the stroke and determine if it's ischemic or hemorrhagic
• Vascular imaging: CT angiography or MR angiography to evaluate for arterial dissection, atherosclerosis, and vasculopathy
• Cardiac evaluation: echocardiogram (both transthoracic and transesophageal if indicated) and prolonged cardiac monitoring for at least 14 days to detect paroxysmal atrial fibrillation
• Laboratory testing: complete blood count, comprehensive metabolic panel, lipid profile, hemoglobin A1c, and coagulation studies
• Additional testing for hypercoagulable states: protein C and S levels, antithrombin III, factor V Leiden, prothrombin gene mutation, antiphospholipid antibodies, and homocysteine levels
• Inflammatory markers and autoimmune testing: ESR, CRP, ANA, and ANCA to evaluate for vasculitis
• Drug screening: to identify substance use as a potential cause of stroke
• Genetic testing: may be appropriate in cases with family history or specific phenotypes suggesting inherited disorders like CADASIL or Fabry disease
• Lumbar puncture: may be considered if CNS vasculitis or infection is suspected

Rationale for the Diagnostic Workup

The diagnostic workup for a young person with stroke should be comprehensive, focusing on identifying both common and uncommon etiologies. The 2021 guideline for the prevention of stroke in patients with stroke and transient ischemic attack recommends a diagnostic evaluation to gain insights into the etiology of and planning optimal strategies for preventing recurrent stroke 1. The workup should include brain imaging, vascular imaging, cardiac evaluation, and laboratory testing to identify risk factors for stroke and inform therapeutic goals. Additional testing for hypercoagulable states, inflammatory markers, and autoimmune testing may be warranted in young patients.

Evidence-Based Recommendations

The recommendations for the diagnostic workup are based on the 2021 guideline for the prevention of stroke in patients with stroke and transient ischemic attack, which provides evidence-based recommendations for the prevention of stroke in patients with stroke and transient ischemic attack 1. The guideline recommends a diagnostic evaluation to gain insights into the etiology of and planning optimal strategies for preventing recurrent stroke, with testing completed or underway within 48 hours of onset of stroke symptoms. The guideline also recommends brain imaging, vascular imaging, cardiac evaluation, and laboratory testing to identify risk factors for stroke and inform therapeutic goals.

From the Research

Diagnostic Workup for CVA or Stroke in Young People

The diagnostic workup for a young person with a cerebrovascular accident (CVA) or stroke involves a comprehensive approach to identify the underlying cause. Key components of this workup include:

• A careful history of risk factors and a thorough neurologic and cardiovascular examination 2
• Laboratory testing, including a wide panel of biomarkers to explore basal status and specific risk factors for thrombotic disorders 3
• Imaging studies, such as brain MRI, neck and cerebral vascular imaging, and transthoracic echocardiogram with a bubble study 4
• Screening for alternative etiologies, including substance abuse, carotid/vertebral artery dissections, and rare genetic conditions 4

Initial Evaluation

The initial evaluation should include:

• A thorough history, including a detailed family history 4
• A physical examination, including a careful evaluation of the patient's general appearance, joint laxity, and abnormalities of the skin, eyes, and heart 4
• Basic risk factor blood work, such as lipid panel, hemoglobin A1c, TSH, ESR, CRP, RPR, HIV, and toxicology screen 4

Additional Testing

Additional testing may include:

• Brain MRI and its vessels 5
• Cardiac investigations, such as Holter-ECG and transoesophageal echocardiography 5
• Lumbar puncture and immunological tests in case of suspected angeitis or infectious context 5
• Angiography and leptomeningeal biopsy in case of suspected angeitis or genetic analyses 5

Importance of Diagnostic Workup

A diagnostic workup is essential to identify the underlying cause of stroke in young people, as it can help prevent stroke recurrence and guide treatment decisions 3, 6, 4, 5. However, despite a comprehensive workup, about one third of cases may remain unexplained, leading to the diagnosis of idiopathic ischemic stroke 5.