Study in Euope highlights EB’s effect on quality of life
Patients in 7 countries say pain, other symptoms affect day-to-day life
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A study across seven European countries found that adults with epidermolysis bullosa (EB) report more pain and significantly worse health-related quality of life than the general population, with severe EB having the greatest day-to-day impact.
“These results fill a critical evidence gap, supporting integration of EB-specific data into health economic models and policy discussions,” the researchers wrote. They said the study “provides the most extensive and up-to-date utility data for EB patients across multiple European countries, offering a robust, patient-centred quantification of the disease’s impact on health-related quality of life.”
The study, “Health-related quality of life in adults with epidermolysis bullosa: a cross-sectional study in seven European countries using EQ-5D-5L,” was published in the Orphanet Journal of Rare Diseases.
EB comprises a group of disorders that make the skin extremely fragile. As a result, even minor friction can lead to blisters and easy tearing, leading to the formation of chronic, painful wounds and scarring.
There are several types of EB, and severity can vary widely. As the disease affects daily life beyond visible skin symptoms, researchers increasingly look at health-related quality of life (HRQoL) to understand the full burden on patients.
Evaluating patients’ views
Tools that assess how people feel and function can highlight issues that routine clinical measures may miss. One widely used questionnaire is the EQ-5D, which converts patients’ self-reported health into a single utility score that can be used to compare health impacts across diseases and inform health policy and cost-effectiveness decisions.
However, the use of this tool in EB remains limited, and existing data from some countries reflect specific populations, making it hard to generalize results.
With this in mind, a group of researchers measured HRQoL among adults with EB across multiple European countries using the EQ-5D-5L.
The study was conducted as part of the BUR-EB Project, a European Joint Programme on Rare Diseases initiative designed to measure the social and economic impact of EB on patients and families across Europe.
The analysis covered 328 adults with EB (61% women) from Austria, Bulgaria, Germany, Hungary, Italy, France, and Spain.
The most common EB types in the study were dystrophic EB (45.7%) and EB simplex (29.3%). About half of the participants had a generalized form of the disease, meaning symptoms affected larger areas of the body. Some patients did not know or did not report their specific EB type or subtype.
Across the group, the most frequently reported symptom was skin blistering (95.4%), followed by pain (76.5%) and skin crusts (65.2%). Based on EB symptoms, 58.2% of participants were classified as having severe EB. These patients reported significantly more symptoms overall than those with non-severe disease, except for skin blisters.
About one-third of participants said they relied on a caregiver for basic daily needs. In most cases (90%), that help came from informal caregivers, such as a parent or another unpaid person, rather than a professional caregiver. The study also noted differences among countries in the availability of professional caregivers, disability allowances, and participation in patient advocacy organizations.
Of the five EQ-5D-5L areas, pain/discomfort was the most prominent. Overall, 92% of patients reported some level of pain or discomfort, and 27% reported severe or extreme pain/discomfort. The proportion of patients reporting these issues was significantly higher in the severe EB group across all five EQ-5D-5L dimensions.
The least affected item was self-care, with 62% of patients reporting no problems. Self-care limitations were especially less common in people with EB simplex, with 75% reporting no self-care problems, and in those classified as non-severe (80%).
The overall EQ-5D-5L health utility score — where higher values reflect better health — was 0.63. Scores ranged from 0.57 in Spain to 0.71 in Bulgaria. Utility scores did not differ significantly by EB type overall, but were markedly lower in severe cases (0.52 in severe EB vs. 0.78 in non-severe EB).
Patients also rated their overall health on the EQ visual analog scale (EQ VAS), where 0 represents the worst health and 100 the best. The average score was 60, with ratings ranging from 51.4 in Hungary to 64.5 in Bulgaria. People with EB simplex reported higher average EQ VAS scores (67.6) than those with dystrophic EB (56.5), a statistically significant difference. Again, participants with severe EB reported significantly worse overall health (53) than non-severe cases (69.8).
Patients in every country reported significantly worse HRQoL than the general population in that country, with pronounced differences in health utility scores.
Pain, chronic wounds, joint deformities, functional disability, and wheelchair use independently influenced HRQoL as measured by the EQ-5D-5L health utility score. Chronic wounds and functional disability were also linked to lower EQ VAS scores.
