Background: Epidermolysis bullosa (EB) is a rare, inherited group of disorders characterized by blistering of the skin following friction or mechanical trauma. EB has a clinical and socioeconomic impact on patients and their families.
Objectives: To assess the quality of life (QoL) in patients with EB and to determine disease burden.
Methods: The study was an observational, cross-sectional postal survey. One hundred and eighty-five patients were invited to participate. Different sets of questionnaires [Short Form-36 (SF-36), Skindex-29, General Health Questionnaire-12 (GHQ-12), EuroQol 5 dimensions] were sent to patients according to age. The perceived severity of the disease was evaluated by patients or by the mothers of the younger children with EB, using the Patient Global Assessment five-point scale. Carers received the Family Strain Questionnaire.
Results: One hundred and twenty-five respondents were analysed. Patients with EB showed lower values in physical components of the SF-36, while the mental components were not significantly impaired. Among EB types, patients with junctional EB and severe generalized recessive dystrophic EB reported lower values and their GHQ-12 scores were significantly different from those of patients with EB simplex. There were no significant differences among EB types/subtypes for Skindex-29 values. Women had a worse QoL compared with men in all Skindex-29 and SF-36 scales (P < 0.05). GHQ-positive cases were more frequent among women (48%) compared with men (16%) (P = 0.003); GHQ-positive cases had a worse QoL compared with GHQ-negative patients. The patient QoL decreased and the family burden increased with increasing patient perceived disease severity and with increasing patient body surface involved. No differences were seen among EB types for the family burden.
Conclusions: In patients with EB mental components of SF-36 scores are similar to the normal population. The perceived disease severity and skin area involved are relevant for QoL in all EB types/subtypes. EB imposes a heavy burden on the caregiver and the family. Psychological support and close monitoring of QoL may help patients with EB and their carers.