ArticleJournal of the American Heart Association2025
Association of Quality of Life Domains and Clinical Symptoms in Patients With Familial Cerebral Cavernous Malformation.
Article in Journal of the American Heart Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundFamilial 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.
methodsPROMIS-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 (
resultsPROMIS 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≤
conclusionsPROMIS 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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