From the Guidelines
Patients with autosomal dominant polycystic kidney disease (ADPKD) are at increased risk for intracranial aneurysms (ICAs) and aneurysmal subarachnoid hemorrhage (SAH), with a prevalence of ICAs estimated to be around 12.9% in the ADPKD population. This increased risk is due to the same genetic defects that cause kidney cysts also affecting the integrity of blood vessel walls 1. Other serious conditions associated with ADPKD include hypertension, which affects about 60-70% of patients even before kidney function declines; heart valve abnormalities, particularly mitral valve prolapse; liver cysts, which occur in up to 80% of patients; diverticular disease; and abdominal wall hernias 1.
The potential benefits of presymptomatic screening and preemptive intervention to prevent aneurysmal rupture depend on several factors, including the prevalence of ICA, the risk of rupture with medical therapy alone, and the yield and risk of the screening technique 1. The KDIGO 2025 clinical practice guideline recommends informing adults with ADPKD about the increased risk for ICA and SAH, including risk factors, preventive measures, and symptoms that should trigger immediate medical attention 1.
Key Points:
- The prevalence of ICAs in ADPKD patients is estimated to be around 12.9% 1.
- ADPKD patients are at increased risk for SAH, with an incidence rate of 0.57 per 1000 patients/yr 1.
- Screening for ICA is recommended for people with ADPKD and a personal history of SAH or a positive family history of ICA, SAH, or unexplained sudden death 1.
- Time-of-flight magnetic resonance angiography without gadolinium enhancement is the recommended method of screening for ICA in people with ADPKD 1.
Recommendations:
- Regular screening for intracranial aneurysms is recommended for ADPKD patients, especially those with a family history of aneurysms or previous aneurysm rupture 1.
- Healthcare providers should ask all people with ADPKD about their tobacco use, advise them to stop using tobacco, and provide behavioral interventions and approved medications to aid in cessation 1.
- People with ADPKD who are not considered at increased risk for ICA and who, after being given comprehensive information, prefer being screened for ICA, should be given access to screening 1.
From the Research
Serious Conditions Associated with Autosomal Dominant Polycystic Kidney Disease
Patients with autosomal dominant polycystic kidney disease (ADPKD) are at increased risk for several serious conditions, including:
- Intracranial aneurysms, which have a rupture rate of 0.57 per 1000 patient-years 2
- Subarachnoid hemorrhage, which can result from the rupture of an intracranial aneurysm 3, 4, 5
- Acute kidney injury (AKI), which can occur in patients with ADPKD, particularly those presenting with subarachnoid hemorrhage 3
- Kidney failure, which affects approximately 50% of individuals with ADPKD by 62 years of age 2
Risk Factors for Intracranial Aneurysms in ADPKD
Several studies have identified risk factors for intracranial aneurysms in patients with ADPKD, including:
- Family history of intracranial aneurysm or subarachnoid hemorrhage 4, 5
- Presence of hepatic cysts, which may be associated with an increased risk of intracranial aneurysms 2
- Hypertension, which affects 70-80% of patients with ADPKD and may contribute to the development of intracranial aneurysms 2
Screening and Management of Intracranial Aneurysms in ADPKD
Screening for intracranial aneurysms in patients with ADPKD is important, particularly for those with a family history of aneurysms or subarachnoid hemorrhage 4, 5. Magnetic resonance angiography (MRA) is a useful tool for detecting intracranial aneurysms in patients with ADPKD 4, 6. Management of intracranial aneurysms in patients with ADPKD may involve observation, open surgical repair, or endovascular treatment 3.