Impact of Preexisting Intracranial Aneurysm on Incidence and Risk of De Novo Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease -Observational Study.

Abstract

Introduction Autosomal dominant polycystic kidney disease (ADPKD) has an elevated prevalence of intracranial aneurysms compared to the general population. However, the risk of de novo aneurysm formation in these patients remains unclear, leading to a lack of consensus regarding whom and when to follow. Although the data from general population tend to be referred, this assumption needs caution because patients with ADPKD have different characteristics such as location tendency, aneurysm size at rupture, and gene mutation. Here, we investigate the incidence of de novo aneurysm in ADPKD patients to examine whether patients without intracranial aneurysms on initial imaging needs frequent follow-up. Methods This is a retrospective cohort study conducted in two ADPKD referral centers in Japan. Consecutive samples of 2,117 adult patients with ADPKD from April 2003 to October 2024 were eligible. Of these, 850 patients without baseline brain imaging and 555 patients without follow-up brain imaging were excluded, leaving 712 patients included in this study. Patients were divided into two groups according to the presence of intracranial aneurysm on the initial image. The primary outcome was the incidence of de novo aneurysm formation during follow-up. Kaplan-Meier analysis and Cox proportional hazards models were used to estimate risk, adjusting for age, sex, hypertension, smoking history, and family history of subarachnoid hemorrhage or aneurysm. Results Of 712 patients, 181 had intracranial aneurysms on initial imaging (screening-positive) and 531 had none (screening-negative). The median age was 54 years (IQR, 45-62 years), and 398 (55.8%) were women. Over 4,580 person-years of follow-up, the overall incidence of de novo aneurysm formation was higher in the screening-positive group (1.2 per 100 person-years), than in the screening-negative group (0.26 per 100 person-years) (HR, 3.81; 95%CI, 1.50-9.67, p = 0.005). Conclusion ADPKD patients without preexisting aneurysms on initial imaging are at relatively low risk of developing de novo aneurysms. Our findings help to determine the adequate follow-up timing and its target in patients with ADPKD. However, caution is warranted in generalizing these results because the study population had a higher median age and more advanced kidney disease.