Mapping health care of rare diseases: the example of epidermolysis bullosa in Germany.

backgroundRare diseases affect approximately 30 million people in the European Union and present a major health issue. Over 1000 rare skin diseases are known, many of which are of genetic origin and manifest in childhood. One of these diseases is epidermolysis bullosa (EB), a genodermatosis presenting with skin fragility and blistering. With an estimate of up to 2000 affected individuals in Germany, many of these children, but only two specialist centres, the question arose where and how health care for this rare disease is provided. This question was addressed by an online survey of all paediatric and dermatological departments in Germany.

resultsThe response rate was 40.5% (203/501), and 39 departments confirmed treating EB (7.8% of the units addressed). Health care for individuals with EB was provided both by dermatological and paediatric departments (19.8 and 4.2% respectively). The geographic distribution of EB health care was uneven. The two EB centres in Hanover and Freiburg treated 70 and 113 patients, two other departments saw 11 to 20 patients, while the majority saw less than 10 patients annually. There existed large variations between 1. the consultation setting, time frame and frequency, 2. the recommended examinations and check-ups and 3. the diagnostics used to establish the diagnosis. Over 50% of participating physicians were dissatisfied with health care outside of hospitals and more than 20% with their patients' supply with bandages or medications.

conclusionsThe survey results show that health care for individuals with EB in Germany is provided multidisciplinarily. Approaches to diagnostics and follow-up recommendations are heterogeneous and national guidelines are lacking. Functioning and innovative political structures are needed to improve networking and strengthening specialised centres to meet the special needs of individuals with EB and other rare diseases.