Provide a more comprehensive understanding of the stroke profile of CADASIL patients in the United States.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, or CADASIL, is a disease caused by mutations in the NOTCH3 gene. The symptoms strongly associated with CADASIL include multiple early cerebral ischemic events, early cognitive decline progressing to vascular dementia, and migraine with aura. As the most common inherited small vessel disease, there is a moderate amount of research that has been done to characterize the nature of CADASIL. However, many of these studies involve cohorts limited in size and localized to Europe or Asia. Few studies have looked at comprehensive patient populations throughout the United States. Additionally, existing literature has demonstrated an increased risk of intracranial hemorrhage and cerebral microbleeds in CADASIL patients, but it is unclear how this relates to their stroke presentation.

This was a retrospective cohort study utilizing the National Inpatient Sample database for the years 2018 through 2022. CADASIL-related admissions were identified by records with a principal diagnosis through its respective ICD-10 diagnosis code (I67.850). Sex, mortality, stroke subtype (intracerebral hemorrhage and ischemic stroke), and common stroke risk factor data were gathered from the identified records.

Through the NIS database, there have been approximately 1.96 CADASIL-related admissions per 100,000 admissions in the United States from 2019 through 2022. 1.72% of these admissions resulted in death during hospitalization. 55.91% of these admissions were female. Ischemic strokes accounted for about 86.5% of all strokes in the cohort (excluding TIA), while hemorrhagic strokes accounted for 13.5%. Essential hypertension and hyperlipidemia were the most common stroke-associated risk factors seen across CADASIL admissions.

Hemmorhagic strokes appear to make up a larger proportion of CADASIL-related strokes by the NIS database compared to previous studies. Further research is required to understand the factors influencing this difference.