Key Points:

IAs location distribution in patients with ADPKD differ from the ones in non-ADPKD patients

IAs in patients with ADPKD are more commonly located in the anterior circulation and in large caliber arteries

Because of IA multiplicity and singular IA distribution, patients with ADPKD represent a special population who need to be closely followed

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic condition associated with intracranial aneurysms (IAs). The associated pathophysiology remains unknown, but an association with wall shear stress is suspected. Cerebral arterial location is the principal factor influencing IA natural history. This study aims to compare IA location-specific distribution between ADPKD and non-ADPKD patients.

Methods: The ADPKD group comprised data from a systematic review of the literature (2016–2020, N=7) and three cohorts: integrated biomedical informatics for the management of cerebral aneurysms, Novosibirsk, and Unruptured Cerebral Aneurysms Study. The non-ADPKD group was formed from the integrated biomedical informatics for the management of cerebral aneurysms, Unruptured Cerebral Aneurysms Study, International Stroke Genetics Consortium, and the Finnish cohort from the literature. Patients and IAs characteristics were compared between ADPKD and non-ADPKD groups, and a meta-analysis for IA locations was performed.

Results: A total of 1184 IAs from patients with ADPKD were compared with 21,040 IAs from non-ADPKD patients. In total, 78.6% of patients with ADPKD had hypertension versus 39.2% of non-ADPKD patients. A total of 32.4% of patients with ADPKD were smokers versus 31.5% of non-ADPKD patients. In total, 30.1% of patients with ADPKD had a positive family history for IA versus 15.8% of the non-ADPKD patients. Patients with ADPKD showed a higher rate of IA multiplicity (33.2% versus 23.1%). IAs from patients with ADPKD showed a significant predominance across the internal carotid and middle cerebral arteries. Posterior communicating IAs were more frequently found in the non-ADPKD group. The meta-analysis confirmed a predominance of IAs in the patients with ADPKD across large caliber arteries (odds ratio [95% confidence interval]: internal carotid artery: 1.90 [1.10 to 3.29]; middle cerebral artery: 1.18 [1.02–1.36]). Small diameter arteries, such as the posterior communicating, were observed more in non-ADPKD patients (0.21 [0.11–0.88]).

Conclusion: This analysis shows that IAs diagnosed in patients with ADPKD are more often localized in large caliber arteries from the anterior circulation in comparison with IAs in non-ADPKD patients. It shows that primary cilia driven wall shear stress vessel remodeling to be more critical in cerebral anterior circulation large caliber arteries.

Trial registration: ClinicalTrials.gov NCT02848495.