Presymptomatic Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease

Abstract

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 3010 patients with autosomal dominant polycystic 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; hypertension and history of smoking were more frequent in the aneurysm group. Twenty-nine percent of patients with aneurysms compared with 11% of those without aneurysms had a family history of subarachnoid hemorrhage (P<0.001). Most aneurysms were small (median diameter =4 mm; range, 2-12 mm); 85% were in the anterior circulation. During a total imaging follow-up of 469 patient-years, de novo intracranial aneurysms were detected in five patients; eight intracranial aneurysms grew (median =2 mm; range, 1-3 mm). During a 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 patients with autosomal dominant polycystic kidney disease, more frequently in those with familial history of subarachnoid hemorrhage, hypertension, or smoking. None of the patients with 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.

Keywords: ADPKD; Aneurysm, Ruptured; Biological Phenomena; Follow-Up Studies; Genotype; Intracranial Aneurysm; Magnetic Resonance Angiography; Physiological Phenomena; Polycystic Kidney, Autosomal Dominant; Smoking; Subarachnoid Hemorrhage; hypertension; polycystic kidney disease.

Graphical abstract

Figure 1.

Study flow chart for the inclusion of patients in the study. ADPKD, autosomal dominant polycystic kidney disease; MRA, magnetic resonance angiography; UIA, unruptured intracranial aneurysm.

Figure 2.

Stability of small intracranial aneurysms detected by presymptomatic screening. (Top row) A 45-year-old woman with a family history of subarachnoid hemorrhage was found to have a 4.7-mm left superior cerebellar artery aneurysm in 1995; subsequent imaging demonstrated slight enlargement to a maximal size of 6.2 mm, which then remained stable through 2018. (Middle row) A 45-year-old woman was found to have a 2.0-mm right superior cerebellar aneurysm in 1991; subsequent imaging demonstrated stability of the aneurysm through 2017. (Bottom row) A 45-year-old woman with a family history of subarachnoid hemorrhage was found to have a 2.0-mm basilar tip aneurysm in 1991; subsequent imaging demonstrated stability of the aneurysm through 2017.