This Invited Commentary accompanies the following articles:
• Khan MH, Banerjee A. Anaesthesia and orphan disease: sugammadex in a patient with Huntington's disease undergoing thyroid lobectomy. Eur J Anaesthesiol 2012; 29:593–594.
• Bakan M, Idin K, Karaaslan K, Ozturk E. Anaesthesia and orphan disease: anaesthetic management of a child with Pena-Shokeir syndrome. Eur J Anaesthesiol 2012; 29:595–596.
More than a year ago the Editorial Board of the European Journal of Anaesthesiology decided to create a new section on the perianaesthetic care of rare and orphan diseases. This project was officially launched in the April 2011 issue with an Editorial on the OrphanAnaesthesia project1 and a Commentary.2 This initiative has yielded only a few interesting publications so far.3 This issue of the journal contains two further case reports4,5 which deserve some comments.
The first describes the anaesthetic management of a young girl with Peina–Shokeir type I syndrome.4 There are very few reports about this syndrome because it is very rare and most patients die in early infancy from pulmonary or respiratory problems.6–8 This syndrome is also called foetal akinesia–hypokinesia sequence or arthrogryposis multiplex pulmonary hypoplasia syndrome. The authors had to deal with two problems. The first was difficult intubation, and the child had a history of two previous failures of tracheal intubation. The authors, therefore, maintained spontaneous ventilation and, using the equipment available in their hospital, they combined direct laryngoscopy with fibreoptic bronchoscopy. The second issue considered in this manuscript was possible susceptibility to malignant hyperthermia. The authors inferred a possible risk of malignant hyperthermia susceptibility from two undocumented malignant hyperthermia episodes mentioned in a previous ear,nose and throat case report on this syndrome and from the presence of arthrogryposis. In fact, arthrogryposis is a generic term meaning ‘multiple joint contractures’ (from the Greek word arthron meaning joint and gryposis meaning bending). It is thought to be caused by decreased foetal movements, a consequence of intrinsic or extrinsic foetal problems. Intrinsic problems include a neurologic disease (e.g. Pena–Shokeir type II syndrome), a muscular disorder (e.g. Freeman–Sheldon syndrome or X-linked spinal amyotrophy) or a connective tissue anomaly (e.g. Beals syndrome). Extrinsic problems include a too small uterine cavity such as in case of oligohydramnios (linked to pulmonary hypoplasia as in Peina–Shokeir type I syndrome) or a uterine malformation. In fact, as proven by large series of patients with arthrogryposis multiplex congenital,9,10 the risk for malignant hyperthermia in this heterogeneous group of patients is not greater than that in the general population.11 However, a common problem is the occurrence of intraoperative hyperthermia the origin of which is probably metabolic but unrelated to malignant hyperthermia.
The risk of malignant hyperthermia associated with Peina–Shokeir type I syndrome itself is currently unknown but probably very small, similar to the general population. This case report illustrates the following common pitfalls when dealing with patients presenting with a rare disease and muscular involvement:
- Considering there is a risk of malignant hyperthermia when any myopathic feature is present; in fact, only a few muscle diseases are associated with malignant hyperthermia susceptibility11 and the majority of malignant hyperthermia susceptible patients do not have a myopathic phenotype.
- Referring to one or a few poorly documented cases of malignant hyperthermia to assess malignant hyperthermia susceptibility in a patient with a similar disorder. Hyperthermia, a late sign of malignant hyperthermia, is too often considered malignant without demonstration of the presence of other signs of this disorder such as increased carbon dioxide production, mixed acidosis, muscle rigidity and signs of rhabdomyolysis. Moreover, these so-called malignant hyperthermia cases often resolve spontaneously without treatment with dantrolene. The malignant hyperthermia scores designed by Larach et al.12 or Pollock et al.13 should be used to evaluate a posteriori the probability of perioperative hyperthermia being indeed malignant. Also, in cases of high probability, muscle testing or genetic research should be performed, if possible. Unfortunately, the results of in-vivo muscle contracture tests can be difficult to interpret because the thresholds for malignant hyperthermia susceptibility have been established in patients with no recognised muscular disease and their results may be different in patients with abnormal muscle structure or metabolism.
Moreover, it should also be kept in mind, as shown in a recent review of confirmed malignant hyperthermia cases, that a family history was present in only 6.5% of cases and that 50.7% of the patients had undergone two uneventful general anaesthetics with triggering agents before developing a malignant hyperthermia crisis.14 Finally, the use of halogenated agents with or without succinylcholine in the presence of some myopathies can produce acute rhabdomyolysis (presenting as hyperkalaemic cardiac arrest or cola-coloured urine) without hyperthermia. The clinical picture mimics malignant hyperthermia but its treatment and pathophysiology are different.15 Vigilance remains the rule!
Last but not least, the anaesthetic plan should be consistent with the authors’ decision regarding the risk of malignant hyperthermia. Possible malignant hyperthermia susceptibility should result in avoiding the use of any malignant hyperthermia-triggering agent and using a vapour-free ventilator; proceeding with inhalational anaesthesia and switching to a propofol-based anaesthetic once intravenous access is obtained is dangerous.
The second case report that is published in the issue describes the use of sugammadex in an adult with Huntington disease.5 In fact, very little new information is given concerning the disease itself, and the authors focused their presentation on the use of rocuronium and its reversal with sugammadex which is nowadays a source of many reports.16,17 In this manuscript, the anaesthetic management could have been different. One could question the choice of a high dose of rocuronium (1 mg kg−1) knowing that a special tracheal tube designed to monitor the electromyogram (EMG) in response to recurrent nerve stimulation would be used. Although avoiding succinylcholine and mivacurium because of a possible deficit in pseudocholinesterases is understandable, the use of a high dose of rocuronium could result in a long delay before three or four responses appear following train-of-four stimulation, thus allowing EMG monitoring. Either a smaller dose of rocuronium (0.3 or 0.6 mg kg−1) or a muscle relaxant undergoing spontaneous degradation (cis-atracurium or atracurium) could have been used instead. Alternatively, a high dose of sugammadex could have been given following intubation to ensure complete reversal of the neuromuscular block before starting EMG monitoring.
These two publications remind us that case reports should be read carefully and their conclusions considered with caution. The scientific value of different parts of their content is often variable and their acceptance for publication after peer review does not mean that the whole anaesthetic management described should be considered as ideal. Also, as far as rare diseases, new drugs or new equipment are concerned, the interest of rarity or novelty sometimes overrides the interest of the clinical management described.
Assistance with the Commentary: none declared.
Financial support and sponsorship: none declared.
Conflicts of interest: none declared.
Comment from the Editor: this Invited Commentary was checked by the Editors but was not sent for peer review. FV is an associate editor of the European Journal of Anaesthesiology.
1. Becke K, Aymé S, Strauss J, et al. The OrphanAnaesthesia project. Eur J Anaesthesiol
2. Veyckemans F. Sharing information on the anaesthetic management of patients with a rare disease. Eur J Anaesthesiol
3. Gentili A, Ansaloni S, Morello W, et al. Diagnosis of congenital myasthenis syndrome with mutation of the RAPSN gene after general anaesthesia. Eur J Anaesthesiol
4. Bakan M, Idin K, Karaaslan K, Ozturk E. Anaesthesia and orphan disease: anaesthetic management of a child with Pena-Shokeir syndrome. Eur J Anaesthesiol
5. Khan MH, Banerjee A. Anaesthesia and orphan disease: sugammadex in a patient with Huntington's disease undergoing thyroid lobectomy. Eur J Anaesthesiol
6. Boesen PV, French CF. Acute respiratory distress in Pena-Shokeir syndrome. Ear Nose Throat J
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14. Larach MG, Gronert GA, Allen GC, et al. Clinical presentation, treatment, and complications of malignant hyperthermia in North America from 1987 to 2006. Anesth Analg
15. Veyckemans F. Can inhalation agents be used in the presence of a child with myopathy? Curr Opin Anaesthesiol
16. Matsuki Y, Hirose M, Tabata M, et al. The use of sugammadex in a patient with myotonic dystrophy. Eur J Anaesthesiol
17. Unterbuchner C, Fink H, Blobner M. The use of sugammadex in a patient with myasthenia gravis. Anaesthesia