Epidermolysis Bullosa Care in Austria and the Epidermolysis Bullosa House Austria

The Epidermolysis Bullosa (EB) House Austria is a special unit for the multidisciplinary management of children and adults with EB. Major advances in EB care have been made possible by a multidisciplinary approach including most of the medical specialties offered at the General Hospital in Salzburg. The EB House Austria is independently funded by the support group DEBRA Austria. As the EB House Austria fulfills all criteria for a European Union reference center, as stated by the Rare Disease Task Force in 2005, the authors hope that in the near future the EB House Austria will be accepted as such on a European Union level and that they can soon get financial support from this side. This support would be of even more importance in the moment when a causative cure, which is of course supposed to be a cost-intensive gene therapy, is available.

In the European Union (EU) rare (orphan) diseases are defined by a prevalence of less than 5 per 10,000 persons. It is estimated that between 6% and 8% of the population (27–36 million people in the EU) have a distinct rare disease that is considerably reducing an individual’s quality of life or socioeconomic potential. There are between 5000 and 8000 different rare diseases, one of which is Epidermolysis bullosa (EB), an inborn and at this time incurable skin disease. EB affects approximately 500 patients in Austria out of a current population of 8.2 million. At present, the authors have registered 179 patients from Austria regularly seen in the Outpatient Unit of the EB House Austria. There may be a high number of unreported patients mainly diseased by dominant forms of EB.

For a long time the care of patients with EB was in the hands of pediatricians and dermatologists focusing mainly on the severe cutaneous problems. Because the gene defect may also involve conjunctivae, the mucosa of the gastrointestinal, urogenital or respiratory tract, and other internal organs, taking care of patients with EB means always following a multidisciplinary approach for a multisystem disease.

Disappointing experiences of EB families was among other the reasons for founding the support group DEBRA Austria in 1995 for those suffering from EB, their families, and caregivers. Debra was the name of a girl whose mother founded the first EB patient group in England more than 30 years ago. Meanwhile, there are more than 40 DEBRA groups worldwide. Today DEBRA Austria offers medical help, counseling, and information to those whose quality of life is significantly limited by this rare disease and its numerous complications.

At the Department of Dermatology, Paracelsus Medical University (PMU) Salzburg, the treatment of hereditary and acquired bullous dermatoses has a long history. Because there was and still is no official support for the development of a specific treatment for patients with rare diseases including EB, DEBRA Austria started a fundraising campaign. The term “butterfly children“ is used for the youngest patients with EB because of their skin, which is as fragile as the wings of a butterfly and some of them also have a short life expectancy, like a butterfly. Because of this extremely successful campaign ( Fig. 1 ), within the last few years patients affected by EB have been acknowledged and DEBRA Austria was able to open the EB House Austria in 2005. It is a unique clinical center situated on the campus of the General Hospital Salzburg that provides medical care, scientific research, and education for people affected by EB.

Epidermolysis Bullosa House Austria

The EB House Austria is as part of the Department of Dermatology of the PMU Salzburg, the world’s first center of its kind ( Fig. 2 ). Vast knowledge about EB was accumulated as the result of many years of cooperation between various medical disciplines and therapists of different departments of the PMU Salzburg. In addition, contact was sought and continued with a worldwide network of medical doctors and researchers working in the field of EB, who have elucidated clinical, epidemiologic, cellular, and molecular aspects of EB and have therefore initiated better treatments, even when those are still only symptomatic.

The EB House Austria consists of three major units ( Fig. 3 ):

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The EB Outpatient Unit is where medical doctors and various therapists provide state-of-the-art medical advice and treatment.
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The EB Research Laboratory is where a research team works on various projects with the ultimate goal to find a cure by developing a successful molecular therapy.
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The EB Academy is where continuous multidisciplinary education and training for laypersons and experts is provided.

Even when there are several initiatives on a European level for rare diseases like EB, the running costs for the EB House Austria of about 500,000 euros per year are still covered completely by private donations given to DEBRA Austria.

Care for Epidermolysis Bullosa in Austria

The authors’ experiences in the medical care of patients with EB in Austria have been included in the book Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy . In brief, physicians of various medical disciplines, who specialized in treating complications of EB, are familiar with the treatment modalities for each individual patient. Their expertise is absolutely crucial for optimal care. In addition to dermatologists and pediatricians, there are specialists for surgery, physical and occupational medicine and therapy, ophthalmology, ear-, nose- and throat-related illnesses, dental, and mouth and jaw treatment. Experts of pain management, nutritional care, and psychological guidance are also involved. The multidisciplinary network is managed by two general practitioners (Anja Diem and Katharina Ude-Schoder) and two EB-specialized nurses (Manuela Langthaler and Alexandra Waldhör), all working at the Outpatient Unit of the EB House Austria.

Most of the patients from Austria, and many patients from neighboring countries (eg, Germany, Italy, Switzerland, and so forth) are seeking counseling and medical assistance in Salzburg. Following an appointment, the patients start at the Outpatient Unit where they are examined by one of the practitioners and then by experienced dermatologists. For patients visiting the EB House for the first time, a detailed medical and family history is obtained, and if necessary, a biopsy sample is taken for immunofluorescence (antigen) mapping (IFM) and sometimes transmission electron microscopy. See articles elsewhere in this issue to gain more information about specific types of EB. In many cases, the IFM allows a preliminary diagnosis, which is then confirmed by mutation analysis on blood samples of patients and of family members, mostly the parents. These results allow counseling for the patients and their families with regard to the outcome of their disease. Knowing the exact genetic alteration (ie, mutations) is also necessary for prenatal diagnosis in case the family wants to have another child.

In a care program, not only the skin but many other organs must be regularly and thoroughly monitored and examined for changes. The authors act upon the maxim to always pay attention to the entire human being and not only to their skin and they want to offer each of their patients the best possible individual care and advice. There are two types of patient care for individuals with EB seeking advice in the EB House in Salzburg:

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“All on one day” means that all necessary appointments on an outpatient base should be on one day to make their stay in Salzburg (ie, far from home) as short as possible.
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“All in one” implies that in case of an admittance to the hospital for a surgical intervention, as many operations as possible should be performed (eg, esophageal dilatation, hand surgery, or dental care under general anesthesia).

In addition to the multidisciplinary medical care, continuous patient training (together with the family) is offered at the EB House Austria.

Because EB is a rare disease, it is often difficult to find enough patients for clinical projects related to treatment. Nevertheless, the authors created a list of 27 major and minor clinical and therapeutic projects for patient-applied research. In this kind of research, including studies on the most severe symptoms of EB, interviews and written questionnaires serve as a tool to establish guidelines for better care of patients. The main topics include contractures and mutilations of fingers and toes; hand surgery and rehabilitation support; management of wounds, itching, and pain; photodynamic diagnostics and therapy for prevention of squamous cell carcinomas; nutritional aspects; psychological needs; and additional methods, such as laser therapy for wound healing, special clothing, or homeopathy ( Fig. 4 ).