Presymptomatic screening for intracranial aneurysms in patients with autosomal dominant polycystic kidney disease

Background and objectives Intracranial aneurysm rupture is the most devastating complication of autosomal dominant polycystic kidney disease. Whether selective or widespread intracranial aneurysm screening is indicated remains controversial. Design, setting, participants & measurements Records of 3010patientswithautosomaldominantpolycystic kidney disease evaluated at the Mayo Clinic between 1989 and 2017 were reviewed. Those who had presymptomatic magnetic resonance angiography screening were included. Results Ninety-four intracranial aneurysms were diagnosed in 75 of 812 (9%) patients who underwent magnetic resonance angiography screening. Sex, age, race, and genotype were similar in the groups with and without aneurysms;hypertensionandhistoryof smokingweremore frequent inthe aneurysmgroup.Twenty-ninepercent of patientswith aneurysms comparedwith 11%of those without aneurysms had a family history of subarachnoid hemorrhage (P<0.001).Most aneurysmswere small (median diameter =4mm; range, 2-12mm); 85%were in the anterior circulation. During a total imaging follow-up of 469 patient-years, de novo intracranial aneurysms were detectedinfivepatients; eight intracranial aneurysmsgrew(median=2mm; range, 1-3mm).Duringa total clinical follow-up of 668 patient-years, seven patients had preemptive clipping or coil embolization; no intracranial aneurysms ruptured. During a total clinical follow-up of 4783 patient-years in 737 patients with no intracranial aneurysm detected on the first magnetic resonance angiography screening, two patients had an intracranial aneurysm rupture (0.04 per 100 person-years; 95% confidence interval, 0 to 0.10). The rate of intracranial aneurysm rupture in large clinical trials of autosomal dominant polycystic kidney disease was 0.04 per 100 patient-years (95% confidence interval, 0.01 to 0.06). Conclusions Intracranial aneurysms were detected by presymptomatic screening in 9% of patientswith autosomal dominant polycystic kidney disease, more frequently in those with familial history of subarachnoid hemorrhage, hypertension, or smoking. None of the patientswith and two of the patients without aneurysm detection on screening suffered aneurysmal ruptures. The overall rupture rate in our autosomal dominant polycystic kidney disease cohort was approximately five times higher than that in the general population.