Rare Disease and Quality of Life: Questionnaire and Indicators on Epidermolysis Bullosa in Italy

The concept of Health-Related Quality of Life encompasses various factors that contribute to an individual’s overall quality of life in the context of health care. It is the perception of an individual or group regarding their physical and mental health over a period of time. At the individual level, Health-Related Quality of Life considers self-reported perceptions of health, such as energy levels and mood, as well as other factors such as risks and conditions, functional capacities, social support and socio-economic status. Health-related Quality of Life is determined through the administration of questionnaires that may be generic or disease-specific. These questionnaires have become an essential tool for public health surveillance, as they provide valuable indicators of unmet needs and intervention outcomes. The present work focuses on the development of a questionnaire for Epidermolysis Bullosa, which is a rare disease, and proposes an index that defines a patient-designed Quality of Life that correlates with an index of uneasiness based on the patient’s perspective on the disease.