Sharing information on the anaesthetic management of patients with a rare disease : European Journal of Anaesthesiology | EJA

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Invited commentary

Sharing information on the anaesthetic management of patients with a rare disease

Veyckemans, Francis

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European Journal of Anaesthesiology 28(10):p 680-681, October 2011. | DOI: 10.1097/EJA.0b013e3283470704
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This Invited Commentary accompanies the following articles:

• Becke K, Aymé S, Strauß J, et al. The OrphanAnaesthesia Project. Eur J Anaesthesiol 2011; 28:678–679.

• 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.

The European Journal of Anaesthesiology has always had an interest in the publication of reports of the anaesthetic management of patients with a rare illness.1–3 The usual definition of a rare or ‘orphan’ disease is ‘a pathology the prevalence of which is less than 1 : 2000 in the general population’. In reality, many diseases are much rarer, although some rare diseases may appear more frequently in particular countries due to clustering of families, high levels of consanguinity, and so on. In addition, this definition does not fit with anaesthesia practice because some anaesthesiologists become very familiar with a rare disease due to bias in exposure to specific groups of patients. For example, anaesthesiologists who undertake anaesthesia for scoliosis surgery are more familiar with Duchenne muscular dystrophy and those dealing with patients who require surgery for congenital heart disease are knowledgeable about microdeletion of chromosome 22. For anaesthesiologists, a disease becomes rare, or ‘orphan’, when it is the first time that they have to care for a patient presenting with the condition.

Over 6000 rare diseases have been described. Information relevant to anaesthesia is scarce and difficult to find, particularly in emergency situations when the time available is limited. The usual sources of information are colleagues, textbooks and internet screening.

Colleagues can be contacted in the hospital, by telephone or via internet discussion lists, but the quality of the response depends on their experience with the disease and their availability to answer. Textbooks on anaesthesia for rare diseases are published regularly,4–6 but they are not always available in the operating theatre complex and their content becomes progressively outdated following publication. An internet-based quick search (‘Googling’) does not necessarily produce useful results because the search engines rank the links found according to complex algorithms, and not necessarily to the quality or relevance of the information provided. Moreover, most findings regarding anaesthesia in rare diseases are isolated case reports, the scientific quality of which is often limited. For example, the absence of a problem can be the result of either good anaesthetic management or chance. If a problem occurred, it is often difficult to differentiate a cause–effect relationship from a simple association of events or, even worse, bad anaesthetic management.

Nonprofessional disease-specific interest groups such as patient organisations create networks but specific information about anaesthesia is rarely available. We are convinced that the only way to improve the anaesthetic care of patients with rare diseases is to encourage colleagues who are familiar with a rare disease to share their experience. Moreover, in order to avoid dissemination of incorrect information, any proposed publication should be peer-reviewed before undergoing publication in a Journal or on an internet website.

Recently, there have been two simultaneous initiatives in European anaesthesia, which aim to improve distribution of anaesthesia-specific knowledge concerning rare diseases and which will hopefully lead to safer patient care.

First, the Editorial board of the European Journal of Anaesthesiology has decided to start a new series to publish, on a regular basis, reports on anaesthesia management of patients with rare diseases. These reports can be either case reports, or full papers, for example, on a series of patients with the same disease. Reports should contain a description of the disease (pathophysiology, genetics, evolution) as well as of the anaesthetic planning and management. Whatever their format, these reports will undergo peer review and should follow the instructions contained in the Journal's Guide to Authors.

Three recently published reports in the Journal provide examples of different types of information on rare diseases. The case report in this issue7 concerns a small child with a congenital myasthenia syndrome who presented with respiratory failure following anaesthesia; it illustrates how the ‘rare disease reflex’ that should be elicited when no straightforward explanation is found following an unusual response to anaesthetic drugs enabled the authors to diagnose a rare muscular disease. The first case series, published in the May issue, concerns osteogenesis imperfecta.8 The authors clearly demonstrate that one of the common messages regarding this disease is wrong; it is generally not associated with intraoperative hyperthermia. The report published in the March issue presents a series of patients with a rare cardiac disease, left ventricular noncompaction or spongiform cardiomyopathy.9 This is the result of the abnormal evolution of foetal cardiac muscle and can result in cardiac problems such as dysrhythmias or heart failure. This retrospective series shows that there is no increased risk of postanaesthesia complications unless cardiac failure is present preoperatively.

Second, there is the OrphanAnaesthesia project, which is fully described in this issue of the Journal.10 In short, it is the creation of an international website (connected with Orphanet) in which free peer-reviewed information in five international languages will be available on the anaesthetic management of patients with a rare disease. This exciting enterprise will, of course, require the collaboration of many anaesthesiologists and experts in rare diseases.

We hope that both initiatives will help to establish a scientific network on anaesthesia for rare diseases around the world and that they will help all of us to provide better care for these patients.


The Anaesthesia for Orphan Diseases section is an initiative of the Editorial Board of the European Journal of Anaesthesiology. F.V. is an associate editor of the Journal; he will be the responsible editor for this section. The OrphanAnaesthesia project was initiated by Uta Emmig, Karin Becke, Jochen Strauss and Ségolène Aymé.

This article was checked and accepted by the editors, but was not sent for external peer-review.


1. Hélaine L, Kiss G. General anaesthesia for a patient with Williams-Beuren syndrome: is sevoflurane and ketamine contraindicated? Eur J Anaesthesiol 2010; 27:399–401.
2. Leykin Y, Sanfilippo F, Crespi L, Pellis T. Perioperative management of an adult patient with childhood cerebral X-linked adrenoleukodystrophy. Eur J Anaesthesiol 2010; 27:214–216.
3. Aceto P. Cisatracurium-induced neuromuscular block during total intravenous anaesthesia in a patient with Charcot-Marie-Tooth disease. Eur J Anaesthesiol 2010; 27:670–672.
4. Bissonnette B, Luginbruehl I, Marciniak B, Dalens B. Syndromes: rapid recognition and perioperative implications, McGraw-Hill Professional; 2006.
5. Baum VC, O’Flaherty JE. Anesthesia for genetic, metabolic, & dysmorphic syndromes of childhood. Philadelphia: Lippincott Williams & Wilkins; 2007.
6. Biro P, Vagts D, Emmig U, Pasch T. Anästhesie bei seltenen Erkrankungen. 4. Auflage. Heidelberg:Springer-Verlag; 2010.
7. 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.
8. Bojanic K, Kivela JE, Gurrieri C, et al. Osteogenesis imperfecta and anaesthesia: a case series. Eur J Anaesthesiol 2011; 28:370–375.
9. Sviggum HP, Kopp SL, Rettke SR, Rehfeldt KH. Perioperative complications in patients with left ventricular noncompaction. Eur J Anaesthesiol 2011; 28:207–212.
10. Becke K, Aymé S, Strauß J, et al. The OrphanAnaesthesia Project. Eur J Anaesthesiol 2011; 28:678–679.
© 2011 European Society of Anaesthesiology