Health-Related Quality of Life following Sirolimus Treatment for Vascular Anomalies

Objective: Sirolimus is a safe and effective pharmaceutical for the treatment of vascular anomalies (VAs); however, there are limited analyses of health-related quality of life (HRQoL) following sirolimus use. This study documents the indications, HRQoL outcomes, and complications of sirolimus in a cohort of patients with VAs. Methods: This was a cross-sectional study with retrospective chart review. Children and adults with VAs treated with sirolimus from 2010 to 2024 were invited to complete the Glasgow Children’s Benefit Index (GCBI) HRQoL survey. Demographics, diagnoses, treatment indications, additional treatments, and complications were collected from medical records. Results: Twenty-one of 24 patients completed the survey (88% response rate, 38% female). Diagnoses encompassed capillary, lymphatic, venous, and combined vascular malformations, as well as complex VAs associated with other disorders. Indications for sirolimus were bulk, pain, appearance, function, hematologic abnormalities, frequent infections, and lymphocutaneous fistula. Median age at treatment initiation was 12 years (range: 11 months–21 years), and median treatment duration was 28.5 months (range: 6.1 months–10.3 years). HRQoL outcomes varied (median: GCBI +8.0 [IQR: −4 to +20], range: −20.0 to +80.0), and 57% of participants experienced overall improvement. Sirolimus resulted in a positive median change in GCBI across all domains apart from emotion: learning: +16.7 (0.0–29.20), vitality: +15.0 (−5.0 to 30.0), physical health: +6.3 (−12.5 to 18.8), and emotion: 0.0 (0–16.7). About 71% of participants reported one or more complications, with mucositis being most common. Conclusion: Sirolimus improved HRQoL in 57% of participants with diverse VA diagnoses and varied indications for treatment. HRQoL was highly varied (GCBI range: −20.0 to +80.0). These results may help inform clinician and patient expectations for sirolimus HRQoL outcomes. Level of evidence: Level 4.