What is the next step for a 33-year-old female with a strong family history of cerebral aneurysms, including her mother, aunt, and maternal grandfather, who was denied a genetics referral?

From the Guidelines

The 33-year-old female with a strong family history of cerebral aneurysms should undergo screening with magnetic resonance angiography (MRA) or computed tomography angiography (CTA) of the brain, and be referred to a neurosurgeon or neurologist for evaluation and management. This recommendation is based on the guidelines for the management of patients with unruptured intracranial aneurysms, which suggest that first-degree relatives of individuals with intracranial aneurysms have an increased risk of harboring aneurysms, especially if there are multiple affected family members 1. Given her significant family history, involving three first and second-degree relatives (mother, aunt, and maternal grandfather), she meets criteria for screening regardless of genetic testing results.

The patient's family history is a significant risk factor, with estimates suggesting that first-degree relatives of those with a history of subarachnoid hemorrhage (SAH) have a higher likelihood of aneurysm detection, especially if they have other risk factors such as older age, female sex, cigarette smoking, history of hypertension, and higher lipid levels 1. The guidelines for the primary prevention of stroke also suggest that noninvasive screening for unruptured intracranial aneurysms may be reasonable in patients with more than two first-degree relatives with SAH or intracranial aneurysms (Class IIb; Level of Evidence C) 1.

Key points to consider in the management of this patient include:

• Screening with MRA or CTA to detect unruptured aneurysms
• Referral to a neurosurgeon or neurologist for evaluation and management
• Counseling on modifiable risk factors, including smoking cessation, blood pressure control, and avoiding excessive alcohol consumption
• Consideration of screening interval, typically every 5-7 years if initial imaging is negative, but adjustable based on specialist assessment. Given the potential consequences of a ruptured aneurysm, including high morbidity and mortality, early detection and management are crucial to improve outcomes and quality of life.

From the Research

Next Steps for a 33-Year-Old Female with a Strong Family History of Cerebral Aneurysms

• The patient has been denied a genetics referral, despite having a strong family history of cerebral aneurysms, with affected relatives including her mother, aunt, and maternal grandfather.
• Given the denial of a genetics referral, the next step could involve seeking a second opinion from a different healthcare provider or a specialist in neurology or genetics 2.
• It may be beneficial for the patient to undergo imaging tests, such as magnetic resonance angiography (MRA), to screen for cerebral aneurysms, as this modality has been shown to be effective in detecting aneurysms 3, 4, 5.
• The use of advanced imaging techniques, such as convolutional neural networks (CNNs) and multidimensional deep learning, may improve the accuracy of aneurysm detection and measurement 4, 6.
• The patient's strong family history of cerebral aneurysms suggests that she may be at increased risk, and therefore, regular screening and monitoring may be necessary to detect any potential aneurysms early on.

Considerations for Imaging Tests

• MRA has been shown to be a useful diagnostic tool for detecting cerebral aneurysms, with high sensitivity and specificity 3, 5.
• The use of 3D MRA can provide detailed information about the location and size of aneurysms, which can be useful for preoperative planning and treatment decisions 3.
• Advanced imaging techniques, such as CNNs and multidimensional deep learning, may improve the accuracy of aneurysm detection and measurement, and reduce the number of false positives 4, 6.

Importance of Genetic Counseling

• Genetic counseling can provide the patient with information about her risk of developing cerebral aneurysms, as well as guidance on screening and prevention strategies 2.
• A genetic counselor can also help the patient to understand the implications of her family history and provide support and guidance throughout the screening and testing process.