Health-Related Quality of Life in Homozygous Familial Hypercholesterolemia: Results from an Online Survey.
- 1FH Europe Foundation, Amsterdam, 133RT, the Netherlands.
- 2Ultragenyx Pharmaceutical Inc, Novato, CA, USA.
- 3Department of Pediatrics, Amsterdam University Medical Centers, Amsterdam, AZ, 1105, the Netherlands.
Abstract
Background and aims
Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder characterized by dangerously high low-density lipoprotein cholesterol levels from birth, creating extreme risk of premature cardiovascular events if untreated. Health-related quality of life (HRQoL) associated with HoFH is not well characterized.Methods
Across multiple countries, patients ≥12 years (y) with HoFH and caregivers ≥18y of patients with HoFH completed an online survey between April-May 2023 and May-August 2024. HRQoL was measured for patients and caregivers using the EuroQol 5 Dimension 5 Level (EQ-5D-5L) and the EuroQol visual analogue scale (EQ-VAS). Utility values were generated based on EQ-5D-5L responses using UK, US, and country-specific tariffs. Median annual cost associated with receiving/accompanying patients to receive lipoprotein apheresis (LA) was estimated.Results
Most patients (n = 8/15) were aged 25-34y; all caregivers (n = 9) were >35y. Mean age at diagnosis was 6.7y (patients)/4.8y (patients of caregivers). Eleven (73%) patients/six (67%) patients of caregivers were receiving LA. EQ-5D-5L scores were lower in patients (0.74) than reported normal range for age-matched English population (0.79-0.95 [range 18-54y]) and average US adult score (0.85). EQ-VAS scores were lower for patients (mean 64/100) than reported US adult average score (80/100). Caregivers scored in normal range. Patients receiving LA reported lower HRQoL than patients who were not. Patients on weekly LA reported markedly lower HRQoL than those receiving it less frequently. Median annual cost associated with undergoing LA was €4915/y (patients)/€5161/y (caregivers).Conclusions
HoFH substantially and negatively impacts patient HRQoL. Receiving LA, whilst efficacious, is costly and demanding on patients' and caregivers' time.
Related
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- Significant Associations of Achilles Tendon Thickness With Atherosclerotic Diseases and Atherosclerotic Risk Factors in Non-Familial Hypercholesterolemia Patients: A Cross-Sectional Study
- Effectiveness of LDL Apheresis Techniques for Reducing LDL‐C in Familial Hypercholesterolemia: A Systematic Review and Meta‐Analysis
- Diagnostic Yield and Clinical Phenotype in a Lithuanian Familial Hypercholesterolemia Cohort with Heterogeneous Sequencing Platforms
BibTeX
@article{evans2026healthrelated,
title = {{Health-Related Quality of Life in Homozygous Familial Hypercholesterolemia: Results from an Online Survey.}},
author = {Elsie Evans and Chyrel Lichaa and Richard D Jones and Albert Wiegman and Magdalena Daccord},
journal = {Patient preference and adherence},
year = {2026},
month = oct,
doi = {10.2147/ppa.s632356},
url = {https://europepmc.org/article/MED/42921523},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Health-Related Quality of Life in Homozygous Familial Hypercholesterolemia: Results from an Online Survey.
AU - Elsie Evans
AU - Chyrel Lichaa
AU - Richard D Jones
AU - Albert Wiegman
AU - Magdalena Daccord
PY - 2026
DA - 2026/10/19
JO - Patient preference and adherence
DO - 10.2147/ppa.s632356
UR - https://europepmc.org/article/MED/42921523
AB - Background and aims Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder characterized by dangerously high low-density lipoprotein cholesterol levels from birth, creating extreme risk of premature cardiovascular events if untreated. Health-related quality of life (HRQoL) associated with HoFH is not well characterized.Methods Across multiple countries, patients ≥12 years (y) with HoFH and caregivers ≥18y of patients with HoFH completed an online survey between April-May 2023 and May-August 2024. HRQoL was measured for patients and caregivers using the EuroQol 5 Dimension 5 Level (EQ-5D-5L) and the EuroQol visual analogue scale (EQ-VAS). Utility values were generated based on EQ-5D-5L responses using UK, US, and country-specific tariffs. Median annual cost associated with receiving/accompanying patients to receive lipoprotein apheresis (LA) was estimated.Results Most patients (n = 8/15) were aged 25-34y; all caregivers (n = 9) were >35y. Mean age at diagnosis was 6.7y (patients)/4.8y (patients of caregivers). Eleven (73%) patients/six (67%) patients of caregivers were receiving LA. EQ-5D-5L scores were lower in patients (0.74) than reported normal range for age-matched English population (0.79-0.95 [range 18-54y]) and average US adult score (0.85). EQ-VAS scores were lower for patients (mean 64/100) than reported US adult average score (80/100). Caregivers scored in normal range. Patients receiving LA reported lower HRQoL than patients who were not. Patients on weekly LA reported markedly lower HRQoL than those receiving it less frequently. Median annual cost associated with undergoing LA was €4915/y (patients)/€5161/y (caregivers).Conclusions HoFH substantially and negatively impacts patient HRQoL. Receiving LA, whilst efficacious, is costly and demanding on patients' and caregivers' time.
SN - 1177-889X
ER -