This Editorial accompanies the following articles:
• Gentili A, Ansaloni S, Morello W, et al. Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia. Eur J Anaesthesiol 2011; 28:748–749.
• Veyckemans F. Sharing information on the anaesthetic management of patients with a rare disease. Eur J Anaesthesiol 2011; 28:680–681.
Orphan diseases are rare diseases with a prevalence in Europe of less than five in 10 000.1 Many are caused by genetic, infectious or auto-immune disorders, but in most cases, their origin is unknown. To date, approximately 7000 orphan diseases have been found, described and investigated. Most are serious chronic diseases and may lead to life-threatening medical conditions. Each orphan disease is characterised by an individual time of onset, heterogenous organ manifestations and different clinical signs. Some diseases can easily be diagnosed when typical signs become apparent at birth or in childhood, for example Treacher–Collins syndrome with its unique cranial dysmorphism, but others appear later, during adulthood, at first without specific symptoms, like the non-specific muscular weakness seen with amyotrophic lateral sclerosis.
Our knowledge of these uncommon diseases among the estimated 27–36 million patients in Europe is poor, as is experience among health professionals. It is unreasonable to expect all clinicians to have an overview of all diseases, rare and common, and their individual medical implications.
In France in 1997, an initiative was launched to provide the community and healthcare providers at large with state-of-the-art information on each orphan disease, through the French web portal Orphanet (www.orpha.net). It was developed by the French National Institute of Health and Medical Research (Institut National de la Santé et de la Recherche Médicale, INSERM) and the French Ministry of Health. Orphanet is a freely accessible reference portal designed to provide information on orphan diseases with the intention of improving the diagnosis, supportive care and treatment of patients with rare disorders. It provides an inventory of rare diseases in which each disease is described by its name and synonyms, prevalence, age of onset, mode of inheritance, list of signs and symptoms and International Classification of Diseases (ICD)-10 Code (http://www.orpha.net/consor/cgi-bin/Disease.php?lng=EN). All information is based on published scientific and peer-reviewed data.
The portal now exists in six languages (English, French, German, Italian, Portuguese and Spanish) and is accessed daily by 20 000 people. It is led by a European Consortium of national teams from around 40 countries, coordinated by the French team. A variety of committees are responsible for supervising different aspects of the project: the Steering Committee for financial aspects, the Management Board for national coordination and the Editorial Board, which is made up of over 100 international experts. Orphanet[Combining Acute Accent]s activities are funded by the French Government and the European Commission.
Patients suffering from a rare disease are often psychologically and physically vulnerable, and are more likely to need inpatient care, surgery and anaesthesia. Perioperative complications may occur in this setting, especially if the medical team lacks specific knowledge of the disease. Reliable information on orphan disease is essential for appropriate care and to avoid preventable disease-related complications like the unexpected difficult airway, electrolytic imbalance, adverse reaction or interaction of medication, and severe postoperative pain, for example. To help provide better care for these patients, Francis Veyckemans,2 in his Invited Commentary in this issue of the European Journal of Anaesthesiology, describes ways of sharing anaesthetic information on orphan diseases in a worldwide scientific network.2
Despite this, it is still difficult for anaesthesiologists to gather the information they require, especially in emergency situations. An ideal tool to close that gap would be freely available multilingual online access to an anaesthesiology-related database on orphan diseases, written and peer-reviewed by experts. The project OrphanAnaesthesia was, therefore, initiated by the Scientific Working Group for Paediatric Anaesthesia of the German Society of Anaesthesiology and Intensive Care (www.dgai.de,www.ak-kinderanaesthesie.de). OrphanAnaesthesia is led and sponsored by both the German Society of Anaesthesiology and Intensive Care, and Orphanet, France.
Systematic standardisation of the files of information has been developed in collaboration with Orphanet: clear instructions on how to produce a disease-specific file are given to authors, anaesthesiologists are preferred, and the file is subsequently double peer-reviewed, once by an expert of the disease and also by another anaesthesiologist, before being published on the website. For each disorder, the information is listed under a series of topics: name of disease and synonyms, definition and pathophysiology, preoperative diagnostic procedures, airway management, transfusion of blood and coagulation components, transport or mobilisation of the patient, interaction between anaesthesia and medication, method of anaesthesia, monitoring, possible complications/emergency situations and postoperative care. Each report is completed by a list of references, name of author, peer-reviewers and date of latest modification.
The pilot-phase of the project OrphanAnaesthesia has recently started. The first drafts have been written by an anaesthesiologist and have passed the double review-process, and publication on the Orphanet website is expected in 2011.
This issue of the European Journal of Anaesthesiology sees the launch of a new section: ‘Orphan Diseases News’. Case reports, case series and brief communications on the anaesthetic management of patients with orphan diseases will now be published regularly. Anaesthesiologists and their teams have the opportunity to publish their expertise across various aspects of rare diseases and to share their knowledge with colleagues. These papers may overlap with OrphanAnaesthesia; peer-reviewed case reports could be easily adapted by the author(s) to become an OrphanAnaesthesia file. Vice versa, authors of OrphanAnaesthesia reports of great worth are encouraged to submit their work to the EJA. Selection of the papers will be coordinated by Francis Veyckemans, Associate Editor of the EJA.
Orphanet, OrphanAnaesthesia and the new EJA Section ‘Orphan Diseases News’ are promising initiatives contributing to the improvement of safety of care and the quality of life of patients with rare diseases. They are elements of an overall strategy developed at national and European Union level during the past 10 years, to overcome the difficulties linked to the rarity of the diseases and the provision of expert care. Some European countries have adopted national plans and in 2008, the European Commission published a strategy document: ‘Rare Diseases: Europe's Challenge’, which was followed in 2009 by a Recommendation of the Council of Ministers. All these documents can be found on the website of the European Union Committee of Experts on Rare Diseases at www.eucerd.eu.
It is time for the anaesthesia community to join the efforts to complement the initiatives already undertaken. If you are interested in participating in this scientific collaborative network on the anaesthesiologic implications of orphan diseases, you are invited to contact any one of the authors.
The Editorial Board of the European Journal of Anaesthesiology invited the authors to present the OrphanAnaesthesia project in the journal. Numerous anaesthesiologists and experts in rare diseases contributed to the OrphanAnaesthesia project.
S.A. is the Director of Orphanet, K.B., J.S. and U.E. are leaders of the OrphanAnaesthesia project, and F.V. is Associate Editor of the EJA.
U.E. has received financial support for travelling and material expenses from the German Society of Anaesthesiology and Intensive Care (DGAI) and the registered society of Hanover (Germany) for the promotion of research and education in paediatric anaesthesia.
This article was checked and accepted by the editors, but was not sent for external peer-review.