From the Guidelines
For a 41-year-old male with a father diagnosed with familial saccular aneurysm of the brain, the recommended screening would be magnetic resonance angiography (MRA) or computed tomography angiography (CTA) of the brain, with MRA being preferred due to its lack of radiation exposure, as supported by 1. The patient's family history of familial saccular aneurysm increases his risk of developing an intracranial aneurysm, with estimates suggesting a 2-4 times higher risk in first-degree relatives of individuals with familial aneurysms, as noted in 1.
Key Considerations
- The appropriate ICD-10 code for this screening would be Z82.3, "Family history of stroke."
- If the initial screening is negative, follow-up imaging is typically recommended every 5-7 years, as aneurysms can develop over time in individuals with familial predisposition, as suggested by 1.
- If an aneurysm is detected, more frequent monitoring or intervention may be necessary depending on the size, location, and other risk factors.
Screening Approach
The screening approach is justified by the increased risk of intracranial aneurysms in first-degree relatives of individuals with familial aneurysms, as discussed in 1.
- Early detection allows for monitoring or prophylactic treatment before a potentially catastrophic rupture occurs.
- MRA is preferred over CTA due to its lack of radiation exposure, making it a safer option for long-term monitoring, as mentioned in 1.
Risk Factors
- Factors that increase the likelihood of aneurysm detection in those with familial risk include older age, female sex, cigarette smoking, history of hypertension, higher lipid levels, higher fasting glucose, family history of polycystic kidney disease, and family history of SAH or aneurysm in ≥ 2 relatives, as identified in 1.
- The patient's age and family history make him a candidate for screening, and the use of MRA or CTA can help identify any potential aneurysms, as supported by 1 and 1.
From the Research
Screening Recommendations
For a 41-year-old male with a family history of familial (genetic) secular (likely referring to saccular) aneurysm of the brain, given his father's diagnosis, the following screening recommendations can be considered:
- The patient's family history increases his risk of developing an intracranial aneurysm, with studies suggesting a prevalence of aneurysms in the second generation of individuals with familial cerebral aneurysms at 29.4% 2.
- Magnetic Resonance Angiography (MRA) or Computed Tomographic Angiography (CTA) can be used as a screening tool to detect intracranial aneurysms, with MRA detecting aneurysms in 60-85% of cases 3.
- Long-term serial screening is recommended for individuals with a family history of aneurysmal subarachnoid haemorrhage (aSAH), with a substantial yield of aneurysm detection even after more than 10 years of follow-up and two initial negative screens 4.
- Screening uptake and patient characteristics may vary, but individuals with two or more first-degree relatives affected by aSAH are at a higher lifetime risk of aSAH and may benefit from screening 5.
Risk Factors and Screening Interval
The following risk factors and screening intervals should be considered:
- A history of previous aneurysms, smoking, and hypertension are significant risk factors for aneurysms at first screening and follow-up screening 4, 5.
- Individuals with a family history of aSAH should undergo screening from age 16-18 years to 65-70 years, with repeated screening every 5 years 4.
- The yield of screening is higher in individuals with two or more first-degree relatives affected by aSAH, and repeated screening should be considered in relatives who have been treated for familial intracranial aneurysms 6.