Comparative Analysis of the Health-Related Quality of Life Between Patients with Familial and Sporadic Forms of Cerebral Cavernous Malformation.

Abstract

To compare health-related quality of life (HRQoL) in patients with familial form of cerebral cavernous malformation (fCCM) versus those with sporadic form of cerebral cavernous malformation (sCCM). A cross-sectional observational study was conducted involving adult patients receiving outpatient care at a specialized referral center for cerebral cavernous malformation (CCM). In addition to clinic visits, demographic data and imaging were reviewed. Patients completed the Patient-Reported Outcome Measurements Information System, version 2.0 (PROMIS-29), and the EuroQol 5 dimensions 5 levels, version 3.1. Data were compared using a 2-tailed 2-sample t-test or Mann-Whitney test for continuous variables. Pearson χ² or Fisher's exact test assessed the association between 2 categorical variables. Eighty-three patients participated in the study over one year. The average age of the participants was 45.37 years (standard deviation = 14.75), with 53 (63.86%) being female. On average, patients had 12.48 years of education (standard deviation = 3.87), and 36 (43.37%) had the familial form of the disease. No significant differences in HRQoL were observed between patients with familial fCCM and sCCM. Among symptomatic patients, there were also no differences between the 2 groups in any domain of either assessment tool. However, within the fCCM group, symptomatic individuals reported worse HRQoL in the usual activities domain of the EuroQol 5 dimensions 5 levels (P = 0.014) and the physical function domain of the PROMIS-29 (P = 0.031) when compared to asymptomatic individuals. This study found no significant differences in HRQoL between patients with fCCM and sCCM.