Assessing the burden of erythropoietic protoporphyria (EPP). A qualitative study of patient statements submitted during a technology appraisal procedure

By capturing the patient experience of living with EPP and afamelanotide treatment this study aims at investigating symptoms, disease burden and treatment benefit and risks. Not only, but most notably with respect to (chronic) rare diseases, generic instruments such as the EQ-5D questionnaire are unable to capture the specificities of the condition. While specific instruments may be more appropriate in this respect, they too squeeze the patient experiences into the narrow frame of a pre-given form that can be analysed statistically. Thus, we argue, the inductive, qualitative analysis of patient narrations following the Constructivist Grounded Theory methodology adds a crucial dimension in understanding the burden of EPP and similar diseases.