Rare Diseases Symptoms Automatic Extraction

The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the Family Dermatology Life Quality Index.

[dystrophic epidermolysis bullosa]

Severe skin diseases, such as epidermolysis bullosa (EB), may have a strong impact not only on patients but also on caregivers. A specific questionnaire evaluating the family impact of dermatological conditions has been created, the Family Dermatology Life Quality Index (FDLQI), but it has not yet been translated in Italian and validated.To evaluate the burden of recessive dystrophic EB on family caregivers, using for the first time the Italian version of the FDLQI, and to validate the instrument.Patients with recessive dystrophic EB participated in a postal survey enquiring about the burden of EB on family caregivers. They completed the Family Strain Questionnaire and the FDLQI and they marked on a silhouette of the human body the skin lesion distribution.Data on 62 family caregivers were collected. The overall mean FDLQI score was 9.8. The most frequently reported problems were the time spent on looking after the patient, emotional distress, physical well-being, and increased household expenditure. FDLQI scores were higher in family caregivers of patients between 10 and 20 years. The Italian FDLQI showed high internal consistency, construct and convergent validity. Factor analysis revealed the presence of one factor structure underlying the items of the FDLQI, which explained 51.5% of the total variance, very similar to the original questionnaire (55.8%).The Italian version of the FDLQI seems to be a useful tool to evaluate the impact of EB on family caregivers. Further studies are necessary to test this instrument in other dermatological conditions.