Patients with multiple arterial aneurysms (≥4 aneurysms), predominantly male, mean age ~70 years
Care Setting
Vascular surgery centers with access to genetic testing and counseling
Key Highlights
Multiple arterial aneurysms differ clinically and histopathologically from single aneurysms, with earlier onset and distinct locations.
Whole exome sequencing identified 24 variants in 23 genes associated with vascular diseases in patients with multiple aneurysms.
Genetic testing is recommended for patients with thoracic aortic disease under 60 years, positive family history, or multiple aneurysms.
Guideline-Based Recommendations
Diagnosis
Define aneurysms as arterial dilation ≥150% of original diameter using imaging.
Exclude known hereditary connective tissue disorders and other arterial pathologies before genetic analysis.
Perform whole exome sequencing to identify pathogenic or likely pathogenic variants in vascular disease-associated genes.
Management
Consider genetic counseling for patients with multiple arterial aneurysms, especially with early onset or family history.
Tailor therapeutic management based on genetic findings, particularly in thoracic aortic aneurysm and dissection cases.
Monitoring & Follow-up
Regular imaging surveillance of affected arterial segments to monitor aneurysm progression.
Monitor for complications such as rupture or thromboembolic events.
Risks
Increased risk of fatal vessel rupture or thromboembolic events due to arterial wall dilation.
Potential for systemic multifocal aneurysm formation influenced by genetic variants.
Patient & Prescribing Data
Male patients with multiple arterial aneurysms, median of 5 aneurysms, mean age at diagnosis ~67 years
Genetic variants in genes such as SMAD3, TNXB, TET2, and PPM1D may influence disease phenotype and management; early genetic testing can guide personalized care.
Clinical Best Practices
Screen patients with multiple aneurysms for genetic variants to identify underlying hereditary factors.
Exclude patients with known connective tissue disorders before genetic analysis to focus on novel or less characterized variants.
Use in silico prediction tools and allele frequency databases to classify variant pathogenicity.
Incorporate genetic findings into risk stratification and individualized treatment planning.
Adhere to STROBE guidelines for observational genetic studies to ensure data quality and transparency.
