Background Familial cerebral cavernous malformation (fCCM) is characterized by multiple brain lesions affecting quality of life. PROMIS‐29 (Patient‐Reported Outcomes Measurement Information System 29) is a quality of life survey validated in some neurological diseases but not in fCCM. We assessed the reliability, validity, and association of PROMIS‐29 in fCCM with clinical symptoms and with the modified Rankin Scale. Methods PROMIS‐29 surveys assessing 7 quality of life domains were completed by 198 patients with fCCM ≥18 years old in the Brain Vascular Malformation Consortium cerebral cavernous malformation study. Raw domain scores were converted to T scores standardized to a reference population (mean 50±10) and tested using intercept‐only regression ( P ≤0.05). Linear mixed models tested whether domain scores were associated with age, sex, clinical symptoms at time of first survey, or with modified Rankin Scale score. Results PROMIS domains had high reliability (Cronbach α >0.85). Patients with fCCM reported significantly worse anxiety (52.71 95% CI, 51.23–54.20), pain (52.50 95% CI, 50.93–54.07), and physical functioning (52.96 95% CI, 51.40–54.52), but better social participation (46.95 95% CI, 45.35–48.54) versus reference. Prior intracranial hemorrhage was associated with worse anxiety (+3.11 95% CI, 0.10–6.12), fatigue (+3.68 95% CI, 0.61–6.76), physical functioning (+3.79 95% CI, 0.74–6.84), and social participation (+4.42 95% CI, 1.28–7.56). Headaches were associated with worse depression (+3.17 95% CI, 0.18–6.17), fatigue (+4.14 95% CI, 0.70–7.59), pain (+3.88 95% CI, 0.40–7.37), and sleep disturbance (+2.94 95% CI, 0.03–5.85). Modified Rankin Scale score was weakly to moderately and positively associated with all domains except sleep disturbance (0.01≤ R 2 ≤0.55). Conclusions PROMIS domains were reliable and correlated with modified Rankin Scale score and symptoms in fCCM, identifying affected domains beyond physical functioning. Future studies should determine whether changes in health domains are associated with fCCM disease severity and further evaluate clinical usefulness of PROMIS.
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