Abstract WP180: Lifelong Cerebrovascular And Neurological Disease Burden Among Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy (cadasil): Analysis Of 914 Cadasil Patients From A Global Research Network

Abstract

Background: We evaluated the cerebrovascular and neurological disease (CVND) burden among patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Methods: Harmonized electronic medical record data from a global research network were utilized to identify diagnosed CADASIL patients. We compared demographics, risk factors, co-existing conditions, and outcomes for CADASIL patients with and without stroke sub-types (ischemic stroke [IS], intracerebral hemorrhage [ICH], subarachnoid hemorrhage [SAH] and transient ischemic attack [TIA]). Likelihood of stroke incidence and overall mortality associated with sex were computed. Odds ratios (OR) and 95% confidence intervals (CI) are reported. Results: Between 2018 and 2020, 914 CADASIL patients were identified (Median (IQR) age: 60 (50 - 69) years, 61.3% females); of whom 596 (65.2%) had a stroke diagnosis. Among all CADASIL-Stroke patients, 89.4% had IS, which co-existed with TIAs in 27.7% and ICH / SAH in 6.2% (Figure). Among 30% and 71% of CADASIL-Stroke patients, the initial stroke event occurred before 50 and 65 years of age, respectively. In addition to a higher burden of hypertension, atrial fibrillation, hyperlipidemia, and diabetes; a higher proportion of CADASIL-Stroke patients (vs CADASIL-non-Stroke) had other co-existing neurological conditions, including migraines (36.7% vs 29.9%), cognitive impairment (38.8% vs 24.2%), epilepsy / seizures (18.6% vs 11.6%), and mood disorders (52.9% vs 40.9%). Adjusted for age and commodities, males had a higher risk of stroke (OR, CI: 1.37, 1.01 - 1.86) and also demonstrated higher overall mortality in a separate model additionally adjusted for stroke diagnoses (OR, CI: 2.72, 1.53 - 4.84). Conclusion: Given the high CVND burden; early genetic screening and targeted preventive strategies are warranted among patients with suspected CADASIL and other hereditary cerebral small vessel diseases.