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

Abstract

Background: Rare 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.

Results: The 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.

Conclusions: The 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.

Keywords: Epidermolysis bullosa; Genodermatoses; Health care; Paediatric dermatology; Rare disease; Survey.

Fig. 1

Flowchart of the survey response

Fig. 2

Geographical location of all survey participants according to specialisation of their clinic (Department of Dermatology, Paediatrics or rehabilitation hospitals) and the provision of care for individuals with EB (yes = red, no = blue)

Fig. 3

Geographical location of survey participants that confirmed to provide care for individuals with EB. Symbol size indicates the number of patients treated annually, symbol shape indicates the clinics’ specialisations. In some cities, several departments or hospitals are involved in EB care; this is visualised by overlay of symbols. Note that only 2 hospitals indicated the care for > 40 patients each (Freiburg 113, Hanover 70 patients) and 2 for 11–20 patients (Erlangen, Berlin)

Fig. 4

Number of individuals with EB per subtype and age group treated by survey participants during the previous twelve months

Fig. 5

Average time (minutes) available per EB consultation (a) and physicians’ satisfaction regarding the average time (minutes) available per EB consultation (b). Numerical answers to consultation times were available from 27/39 participants

Fig. 6

Medical subspecialties involved in EB care. a Overall response (n = 39). b Responses of departments for Dermatology (n = 21), c Departments for Paediatrics (n = 16). Replies on medical subspecialties in rehabilitation hospitals were only available for one of two hospitals, and only a dermatologist was regularly involved in EB care in this hospital

Fig. 7

Medical history and clinical parameters collected during visits of EB patients. Anthropometric parameters include weight, height and calculation of percentiles

Fig. 8

Participants’ recommendations regarding frequency of various examinations in EB-patients with generalised disease. *Additional to paediatric check-ups according to national health plan

Fig. 9

Participants’ practices and recommendations regarding the frequency of specific laboratory measurements