HEALTH-RELATED QUALITY OF LIFE IN PATIENTS WITH RARE DISEASES IN COLOMBIA REAL-WORLD EVIDENCE FROM A NATIONAL COHORT
Author(s)
Leidy Alvarez, MD, MSc in Clinical Epidemiology, PhD Candidate1, Liliana Diaz, Leader of orphan diseases at EPS Sura2.
1Mgs epidemiología clínica, EPS y Medicina Prepagada Suramericana S.A., Medellin, Colombia, 2EPS y Medicina Prepagada Suramericana S.A., Medellin, Colombia.
1Mgs epidemiología clínica, EPS y Medicina Prepagada Suramericana S.A., Medellin, Colombia, 2EPS y Medicina Prepagada Suramericana S.A., Medellin, Colombia.
OBJECTIVES: Rare diseases pose significant challenges for health systems due to clinical heterogeneity, chronicity, and high functional burden. Evidence on health-related quality of life (HRQoL) in Latin America remains limited. This study aimed to describe HRQoL and identify associated factors in a large real-world cohort of patients
METHODS: We conducted a cross-sectional study including 2,489 patients with confirmed rare diseases affiliated with a Colombian health insurer between 2024 and 2025. HRQoL was assessed using the EQ-5D through structured telephone interviews. Descriptive analyses were complemented by non-parametric tests, correlation analyses, and an exploratory logistic regression model to identify factors associated with high versus low HRQoL (median EQ-5D index). The cohort was predominantly female (52.9%), with a median age of 14 years (IQR 8-32), including 321 distinct diagnoses.
RESULTS: The mean EQ-5D index was 0.727 (SD 0.316), ranging from -0.594 to 1.000. Mean self-rated health (EQ-VAS) was 7.99 (SD 1.74) and showed a strong positive correlation with the EQ-5D index (ρ=0.60; p<0.001). Pain/discomfort and usual activities were the most affected dimensions, with 46.2% and 35.9% of patients reporting moderate to severe limitations, respectively. HRQoL significantly decreased with age (p<0.001) and was lower among patients with disability. Greater clinical burden, reflected by hospitalisations and comorbidities, was associated with worse HRQoL. In multivariable analysis, disability, older age, higher number of hospitalisations, and greater clinical complexity were associated with lower odds of high HRQoL, while affiliation with the contributory insurance scheme was associated with better outcomes.
CONCLUSIONS: HRQoL among patients with rare diseases is highly heterogeneous and particularly impaired in pain and functional domains. Key determinants include age, disability, and clinical burden. Incorporating patient-reported outcomes into routine care could improve integrated management.
METHODS: We conducted a cross-sectional study including 2,489 patients with confirmed rare diseases affiliated with a Colombian health insurer between 2024 and 2025. HRQoL was assessed using the EQ-5D through structured telephone interviews. Descriptive analyses were complemented by non-parametric tests, correlation analyses, and an exploratory logistic regression model to identify factors associated with high versus low HRQoL (median EQ-5D index). The cohort was predominantly female (52.9%), with a median age of 14 years (IQR 8-32), including 321 distinct diagnoses.
RESULTS: The mean EQ-5D index was 0.727 (SD 0.316), ranging from -0.594 to 1.000. Mean self-rated health (EQ-VAS) was 7.99 (SD 1.74) and showed a strong positive correlation with the EQ-5D index (ρ=0.60; p<0.001). Pain/discomfort and usual activities were the most affected dimensions, with 46.2% and 35.9% of patients reporting moderate to severe limitations, respectively. HRQoL significantly decreased with age (p<0.001) and was lower among patients with disability. Greater clinical burden, reflected by hospitalisations and comorbidities, was associated with worse HRQoL. In multivariable analysis, disability, older age, higher number of hospitalisations, and greater clinical complexity were associated with lower odds of high HRQoL, while affiliation with the contributory insurance scheme was associated with better outcomes.
CONCLUSIONS: HRQoL among patients with rare diseases is highly heterogeneous and particularly impaired in pain and functional domains. Key determinants include age, disability, and clinical burden. Incorporating patient-reported outcomes into routine care could improve integrated management.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
PCR248
Topic
Clinical Outcomes, Epidemiology & Public Health, Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
Rare & Orphan Diseases