Abstract TP11: Familial Cerebral Cavernous Malformations: Impact of Lesion Number and Size on Functional Status and Quality of Life

Abstract

Introduction: Individuals with familial cerebral cavernous malformation (FCCM) syndrome may experience a wide variety of psychosocial challenges beyond the known neurologic sequelae of headache, seizure, and intracerebral hemorrhage. Little is known about how number and size of CCMs correlate with overall function and quality of life. This study aims to better characterize the impact of CCM burden on function and quality of life using a standardized metric. Methods: Patients with FCCM from four institutions were included for analysis. Functional status and quality of life were measured using the Neuro-QoL (available at www.NIHToolbox.org). Lesions were manually counted on brain MRI at time of enrollment; lesions ≥5mm were considered large lesions. Log-squared residuals were determined for each subject to adjust lesion count based on age and sex. Linear regression analysis was performed to assess association between adjusted number of lesions and Neuro-QoL scores. Results: 96 patients with FCCM were included from four organizations. FCCM genetic subtype was known in 59/96 (61%) of cases (CCM1: n= 53; CCM2: n=4; CCM3: n=2); the remainder were diagnosed based on clinical criteria. Median mRS was 1; 41% had experienced intracerebral hemorrhage. Increased number of lesions was associated with higher emotional dysregulation (p=0.045) and less positive affect (p=0.022). Increased number of large lesions was associated with increased stigma (p=0.033) and decreased social participation (p=0.041) and social satisfaction (p=0.031). Anxiety, depression, upper and lower extremity function, and cognition showed no significant association with number of lesions regardless of size. Conclusions: This study highlights that mood may be associated with number of CCM lesions and social participation may be associated with number of large lesions. Motor function and diagnoses of anxiety and depression showed no significant association with CCM burden. As treatments emerge for individuals with FCCM, metrics such as the Neuro-QoL allow for standardized measurement of impacts of treatments on patient-centric outcomes such as function and quality of life.