From the Guidelines
Patients with autosomal dominant polycystic kidney disease (ADPKD) are at increased risk for intracranial aneurysms, which occur in approximately 12.9% of ADPKD patients, as reported in the most recent study 1.
Risk Factors and Prevalence
The risk is particularly elevated in those with a family history of aneurysms or subarachnoid hemorrhage. This association exists because the same genetic mutations that cause cyst formation in the kidneys (primarily in the PKD1 and PKD2 genes) also affect vascular integrity, leading to weakened arterial walls in cerebral blood vessels.
- The prevalence of intracranial aneurysms in ADPKD patients is difficult to assess due to the lack of systematic screening, but it is estimated to be around 12.9% 1.
- The incidence rate of subarachnoid hemorrhage is 0.57 per 1000 patients per year, and thunderclap headache should lead to immediate medical attention 1.
Screening and Management
Many nephrologists recommend screening for intracranial aneurysms in ADPKD patients, especially those with risk factors such as family history of aneurysms, previous aneurysm, hypertension, or high-risk occupations.
- Screening typically involves magnetic resonance angiography (MRA) or computed tomographic angiography (CTA) 1.
- Blood pressure control is also essential in these patients to reduce the risk of aneurysm formation and rupture.
Clinical Implications
The consequences of aneurysm rupture can be devastating, with high mortality and morbidity rates.
- Therefore, it is crucial to inform adults with ADPKD about the increased risk for intracranial aneurysms and subarachnoid hemorrhage, including risk factors, preventive measures, and symptoms that should trigger immediate medical attention 1.
- Healthcare providers should also advise patients to stop using tobacco and provide behavioral interventions and approved treatments to reduce the risk of aneurysm development and rupture 1.
From the Research
Increased Risk of Serious Condition in Autosomal Dominant Polycystic Kidney Disease Patients
Autosomal dominant polycystic kidney disease (ADPKD) patients are at an increased risk for several serious conditions, including:
- Intracranial aneurysms, which can rupture and lead to subarachnoid hemorrhage 2, 3, 4, 5, 6
- Hypertension, which affects 70% to 80% of patients with ADPKD 5
- Kidney failure, with approximately 50% of individuals with ADPKD requiring kidney replacement therapy by 62 years of age 5
Prevalence and Risk of Rupture of Intracranial Aneurysms
The prevalence of unruptured intracranial aneurysms in ADPKD patients is approximately 11% 4, while the rupture rate is around 0.04 to 0.57 per 100 patient-years 2, 5. The risk of rupture is higher in patients with a family history of subarachnoid hemorrhage, hypertension, or smoking 2.
Management of Intracranial Aneurysms in ADPKD Patients
The management of intracranial aneurysms in ADPKD patients is individualized and depends on various factors, including the size and location of the aneurysm, as well as the patient's overall health status 3, 4. Screening for intracranial aneurysms is recommended for first-degree relatives of patients with ADPKD and a history of subarachnoid hemorrhage 6.