Patient-reported outcomes in conservatively managed cerebral cavernous malformations

Background: There is a paucity of studies on patient-reported outcomes and quality of life (QoL) in conservatively managed patients with a cerebral cavernous malformation (CCM).

Methods: This single-center observational study included consecutive adult CCM patients, diagnosed in 2000-2023, managed conservatively, and with at least 6 months of follow-up. Patients completed two validated patient-reported outcome measures (PROMs): EuroQol 5-dimensions 5-levels (EQ-5D-5L), and Patient-Reported Outcome Measurement Information System 29 (PROMIS-29). Results were compared with Dutch reference populations.

Results: Of 246 eligible patients with a CCM, 205 (83%) completed the PROMs. Median age was 46 years and 45% were male. Ninety-six (47%) patients presented with symptomatic hemorrhage (SH), 49 (24%) with a seizure, and 51 (25%) had a brainstem CCM. Median follow-up was 62 months (IQR 38-97). CCM patients had lower utility-weighted EQ index scores than the reference population (0.79 versus 0.87, p < 0.001). Most PROMIS-29 domain scores showed no significant difference, but patients reported more anxiety/fear (54.1 versus 50.3, p < 0.001) and depression/sadness (52.4 versus 50.3, p = 0.005), and less pain (41.6 versus 55.6, p < 0.001). Patients who presented with SH or seizure, or who had a brainstem CCM reported significantly worse scores in several domains compared to those with other presentations, or without brainstem CCM.

Conclusions: Patients with conservatively managed CCMs reported lower overall health than the general population. Mental health was affected most, while other domains were largely comparable, and patients reported less pain. Presentation with SH, seizure, or brainstem CCM was associated with worse scores. These data can help patient counseling, suggesting guidance on mental health.