Should a 41-year-old female be screened for brain aneurysm if her sister died of a ruptured brain aneurysm at 28 years old?

Screening for Brain Aneurysm in a 41-Year-Old Female with Family History

Yes, a 41-year-old female with a first-degree relative (sister) who died of a ruptured brain aneurysm at age 28 should be screened for brain aneurysm with MRA. 1

Rationale for Screening

The American Heart Association/American Stroke Association guidelines support screening in individuals with first-degree relatives who died of an aneurysm, especially at a young age, due to significantly elevated risk of harboring an unruptured intracranial aneurysm (UIA) 1. This recommendation is particularly relevant in this case because:

• First-degree relatives of individuals with aneurysms have a higher likelihood of harboring aneurysms 1
• The patient's sister died at a young age (28 years), which increases concern for genetic predisposition
• The patient is female, which is an additional risk factor for aneurysm development 1
• The patient is over 30 years old, which is the recommended age to begin screening 1

Evidence Supporting Screening

• Individuals with one affected first-degree relative with aneurysmal subarachnoid hemorrhage (aSAH) have an average prevalence of UIAs of 4.8%, compared to 3% in the general population 2
• This prevalence can increase up to 19% when additional risk factors are present 2
• Recent studies suggest that screening can be cost-effective even in persons with only one first-degree relative with intracranial aneurysm or aSAH 2
• The ACR Appropriateness Criteria recommends screening for patients with two family members with intracranial aneurysms or SAH, particularly in those with a history of hypertension, smoking, and female sex 3

Recommended Screening Approach

1. Initial Screening Test: MRA head is the preferred initial screening tool 1

   • Noninvasive nature and no radiation exposure
   • Pooled sensitivity of 95% and specificity of 89% 3
   • Diagnostic accuracy is increased at 3T scanner strength 3

2. Alternative Screening Test: CTA head if MRA is contraindicated

   • Sensitivity >90% for detecting aneurysms 3
   • Less ideal for repeated surveillance due to radiation exposure 1

3. Follow-up: If initial screening is negative, repeat screening every 5-7 years 1

Important Considerations

• Limitations of Screening: Both MRA and CTA have reduced sensitivity for aneurysms <3mm in size 3, 1

• Risk Factors to Address: Counsel the patient on modifiable risk factors:

  • Smoking cessation (if applicable) is critical as smoking is a major risk factor 1
  • Blood pressure control 1

• If an Aneurysm is Detected: Treatment decisions should consider:

  • Aneurysm size, location, and morphology
  • Patient age and comorbidities
  • Risk of rupture versus risk of intervention 1

Potential Pitfalls

• False Negatives: Small aneurysms (<3mm) may be missed on initial screening 3
• False Positives: Vessel loops and infundibular origins of vessels can lead to false-positives for aneurysm on MRA 3
• Psychological Impact: Screening and potential detection of aneurysms can cause anxiety; proper counseling is essential 1
• Incidental Findings: Be prepared to address unrelated findings that may be detected during screening

While the American Heart Association guidelines traditionally recommended screening primarily for individuals with ≥2 affected first-degree relatives 3, more recent evidence supports screening even with a single affected first-degree relative, particularly when the relative died at a young age and when the patient has additional risk factors such as female sex 1, 2.