Presentation (CTI)

OBJECTIVES: Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disorder characterised by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth that, without appropriate treatment, results in early onset atherosclerotic cardiovascular disease and premature death. Lipoprotein apheresis (LA) may be necessary if patients cannot achieve adequate LDL-C reduction from other therapies and during pregnancy when lipid-lowering treatment options may be limited. Studies investigating the health-related quality of life (HRQoL) of patients receiving LA indicated that while LA can effectively decrease LDL-C, the invasive and time-consuming nature of LA may contribute to poorer HRQoL due to physical complaints, reduced emotional wellbeing, and impaired work performance. Therefore, assessing treatment-related HRQoL in patients receiving LA remains crucial to ensuring personalised and optimised care. This study sought to investigate the HRQoL burden associated with LA specifically in paediatric patients with HoFH, and their caregivers.
METHODS: We reviewed published literature and interviewed a patient advocacy group representative to inform the development of health state vignettes which depicted the patient and caregiver experience of LA at varying treatment intensities. The vignettes were subsequently validated with clinical experts. The time-trade off (TTO) methodology will be employed with the Italian general population to quantify the disutility associated with LA in paediatric patients with HoFH and their caregivers.
RESULTS: Six health state vignettes were developed, describing paediatric patients with HoFH receiving different intensities of LA or no LA, alongside corresponding caregiver health states. The vignettes captured a range of treatment-related impacts extending beyond clinical management, including pain, discomfort, fatigue, psychological distress, treatment inconvenience, and travel burden.
CONCLUSIONS: LA is associated with substantial HRQoL burden in paediatric patients with HoFH and their caregivers. The vignettes provide a structured basis for quantifying LA-related disutility using TTO methodology to reinforce the need for less burdensome treatment strategies to improve the HRQoL of patients and families.