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EDITORIAL

Anaesthesia and orphan disease series

What is the yield?

Veyckemans, Francis

Author Information
European Journal of Anaesthesiology: August 2017 - Volume 34 - Issue 8 - p 487-488
doi: 10.1097/EJA.0000000000000616
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In April 2011, the Editorial board of the European Journal of Anaesthesiology decided to offer clinicians the opportunity of publishing case reports on the anaesthetic management of patients with rare diseases as Letters to the Editor. This special series was called ‘Anaesthesia and orphan disease’.1 It was launched at the same time as the Germany-driven OrphanAnaesthesia project.2 This decision was made at the time when all the major journals, including the European Journal of Anaesthesiology, had decided to reduce or even cease the publication of case reports. This decision was taken because the scientific value of case reports varies greatly3 and also because case reports are rarely quoted. This latter fact has a negative effect on the journal impact factor. On the other hand, case reports can convey useful clinical messages and, after all, we all like reading short clinical stories because they present us with challenging situations. Consequently, several journals have reintroduced some types of case reports (e.g. images sections),4 and even new journals have been created, for example, A&A Case Reports.

Coming back to the Anaesthesia and orphan disease series in the European Journal of Anaesthesiology, 55 manuscripts were submitted up to November 2016 out of which 30 were published. Their categorisation according to the nature of the disease and the population concerned is shown in Table 1. The main issues described in the published papers were: difficult intubation (n = 9),5 use of muscle relaxants and their reversal (n = 3),6 regional anaesthesia (n = 3)7 or possible interactions with the patient's medical treatment (n = 2).8,9 Three papers were the first description of the anaesthetic management of a patient with the described disease.10–12 Surprisingly, although in comparison to research manuscripts, case reports are usually considered as ‘easy’ papers to write, most published case reports required three peer review processes, with rewriting after each (not taking into account final language editing which could also involve some peer review), before being accepted.

Table 1
Table 1:
Distribution of the manuscripts submitted to the Anaesthesia and orphan disease series from April 2011 to November 2016

Regarding the manuscripts which were not published, there were four main reasons for their rejection. First, lack of new information. Some rare diseases have already been reported in the anaesthetic literature and no original or useful contribution was found in the submitted manuscript. Second, poor description of the case; the diagnosis of the disease was not well established (e.g. genetics, electromyography or histology in the case of muscle disease etc.) and/or the anaesthetic management was not described in enough detail (drugs and dosage, monitoring and so on). Third, discrepancy between the authors’ recommendations and the actual management. For example, in one case, preoperative echocardiography was recommended on the basis of the disease pathophysiology but none was performed. This is not acceptable, unless the disease was unsuspected and uncovered only following a perianaesthetic haemodynamic complication. And finally, although rarely, when clinical management was considered to be verging on poor practice. For example, authors, without any supporting evidence, recommended the administration of a hypotonic i.v. solution as a maintenance fluid, or the use of muscle relaxants without monitoring the adequacy or recovery of the neuromuscular blockade. The submitted manuscripts need to have some educational value, and publishing bad practice could be interpreted as approving its use by the editors.

I take this opportunity to thank the reviewers who participated in the evaluation of all the manuscripts. Their opinions, whether targeted at the described disorder because of their expertise, or based on their clinical experience, were of great value, and often helped the authors improve the content and presentation of their manuscript.

I hope that the information above will encourage even more colleagues to publish in our journal, sharing their experiences of the perianaesthetic care of patients with rare diseases. From the anaesthetic point of view, a rare disease can present in many ways. The easiest would be when the diagnosis is known preoperatively and the anaesthetic management is then planned around it. The most difficult is when the disease is uncovered during or following anaesthesia because of a complication or an abnormal patient's response.13 The diagnosis could then be overlooked easily if the anaesthesiologist does not think ‘is this possibly a rare disease?’ However when the disease reveals itself, authors are encouraged to collect as much data as possible. For example, a detailed patient history, how and when the diagnosis was established, monitoring data, drug dosages and so on. Moreover, the patient or guardian should provide written permission to publish the case, even if no pictures are published.

Taking care of a patient with a rare disease is always a challenge, whether the disease be anatomic, metabolic and/or pharmacologic. But it is also a stimulating and rewarding professional experience because it challenges our knowledge and imagination, and makes us walk on the frontier between science and art.

Acknowledgements relating to this article

Assistance with the Editorial: none.

Financial support and sponsorship: none.

Conflicts of interest: none.

Comment from the Editor: This Editorial was checked by the editors but was not sent for external peer review. FV is an Associate Editor of the European Journal of Anaesthesiology. He is responsible for the Anaesthesia and orphan disease series.

References

1. Veyckemans F. Sharing information on the anaesthetic management of patients with a rare disease. Eur J Anaesthesiol 2011; 28:680–681.
2. Becke K, Aymé S, Strauss J, et al. The OrphanAnaesthesia project. Eur J Anaesthesiol 2011; 28:678–679.
3. Veyckemans F. Case reports: keep a critical eye!. Eur J Anaesthesiol 2012; 29:559–560.
4. Ugarte LR, Munoz-San Julian C. Laryngeal papillomatosis. Anesthesiology 2014; 121:1092.
5. Vreeswijk SJ, Claahsen HL, Borstlap WA, Hendricks MP. Anaesthesia and orphan disease: Hutchinson-Gilford progeria syndrome, a case report and summary of previous cases. Eur J Anaesthesiol 2016; 33:869–872.
6. Galvez-Canellas JL, Errando CL, Martinez-Torrente F, et al. Anaesthesia and orphan disease: difficult monitoring of neuromuscular blockade in a patient with severe Charcot-Marie-Tooth disease type I. Eur J Anaesthesiol 2013; 30:772–775.
7. Huercio I, Guasch E, Brogly N, Gilsanz F. Anaesthesia and orphan disease: combined spinal-epidural anaesthesia in a patient with Friedreich's ataxia. Eur J Anaesthesiol 2014; 31:340–341.
8. Eberhardt E, Münster T, Wurm J, Prottengeier J. Anaesthesia and orphan disease: Bloom's syndrome. Eur J Anaesthesiol 2016; 33:547–549.
9. Vargas M, Lallo C, Marra A, Servillo G. Anaesthesia and orphan disease: laparoscopic cholecystectomy with paroxysmal nocturnal haemoglobinuria and human mAb therapy. Eur J Anaesthesiol 2013; 30:770–772.
10. Buget MI, Canbolat N, Akgul T, Kucukay S. Anaesthesia and orphan disease: anaesthetic management of a child with Hamamy syndrome. Eur J Anaesthesiol 2015; 32:891–893.
11. Abdallah C. Anaesthesia and orphan disease: anaesthesia for Gomez-Lopez-Hernandez syndrome. Eur J Anaesthesiol 2015; 32:218–220.
12. Nishida T, Mihara T, Horiki T, Ka K. Anaesthesia and orphan disease: primary autosomal recessive microcephaly-10 caused by a mutation of the ZNF335 gene. Eur J Anaesthesiol 2016; 33:543–545.
13. Gentili A, Ansaloni S, Morello W, et al. Diagnosis of congenital myasthenic syndrome with mutation of the RASPN gene after general anaesthesia. Eur J Anaesthesiol 2011; 28:748–749.
© 2017 European Society of Anaesthesiology