Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Practical Approach to Screening and Management

Abstract

Autosomal dominant polycystic kidney disease (ADPKD), the most prevalent genetic kidney disorder, is characterized by diffuse kidney cysts, hypertension, and progressive kidney function decline, often leading to kidney failure by the age of 60 years. Compared with the general population, patients with ADPKD have an increased risk for development of saccular intracranial aneurysms (IAs), which can lead to intracranial bleeding and result in significant disability and mortality. Of both modifiable and nonmodifiable risk factors, the most significant is a family history of IAs or aneurysm rupture. Other contributing factors include hypertension, cigarette smoking, age, and sex. Most IAs currently detected during screening tests are small and located in the anterior circulation. Intracranial aneurysms can be manifested with thunderclap headache, which may be indicative of subarachnoid hemorrhage. Less commonly, IAs cause symptoms related to mass effect with focal neurologic deficits. Subarachnoid hemorrhage is particularly concerning, given its high case-fatality rate, which remains around 35% despite advances in neurologic care. Therefore, control of risk factors, early detection, and treatment when indicated are important to prevent adverse outcomes. Screening for IAs in ADPKD remains controversial and can be approached either universally (screening of all ADPKD patients) or selectively (screening of high-risk patients). The preferred imaging modality is brain magnetic resonance angiography without contrast enhancement or alternatively computed tomography angiography. This review provides a practical guide for medical teams managing patients with ADPKD, detailing the characteristics of IAs and their associated symptoms. It presents an algorithm for risk assessment and screening along with recommendations for treatment and follow-up care.