(Glycogen Storage Disease Type V) and Anesthesia a Case Report And
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Pediatric Anesthesia ISSN 1155-5645 REVIEW ARTICLE McArdle’s disease (glycogen storage disease type V) and anesthesia – a case report and review of the literature Georg Bollig1,2 1 Department of Anesthesiology and Intensive Care, Palliative Medicine and Pain Therapy, HELIOS Klinikum Schleswig, Schleswig, Germany 2 Department of Surgical Sciences, Haukeland University Hospital, University of Bergen, Bergen, Norway Keywords Summary general anesthesia; glycogen storage disease; glycogen storage disease type V; McArdles disease (glycogen storage disease type v) is a rare condition in malignant hyperthermia; McArdles disease; which energy-metabolism in the muscle is hampered. A case report is pre- perioperative complications sented and the possible risk for perioperative complications including malig- nant hyperthermia is discussed. A checklist for the anesthesiological Correspondence management of patients with McArdles disease is provided. A short overview Georg Bollig, Department of Anesthesiology of anesthesiological challenges and perioperative complications of other gly- and Intensive Care, Palliative Medicine and Pain Therapy, HELIOS Klinikum Schleswig, cogen storage diseases is given. Schleswig, Germany Email: [email protected] Section Editor: Barbara Brandom Accepted 3 March 2013 doi:10.1111/pan.12164 tachycardia and hypotonia occurred. After the opera- Introduction tion, the anesthesiologist informed the patient about the McArdle’s disease is a rare condition in which energy event and the fact that he had elevated liver enzymes metabolism in the muscle is hampered. A case report (aspartate transaminase = AST, alanine transaminase = will be presented, and the possible risk of perioperative ALT, and lactate dehydrogenase = LDH). An overview problems including malignant hyperthermia is dis- of the patient’s anesthesiological history is given in cussed. In addition, a brief overview of anesthesiological Table 1. Laboratory tests for hepatitis and HIV had challenges and implications of glycogen storage diseases been undertaken without previous informed consent by will be given. the patient and were negative. No diagnosis was made, and the patient got the advice to take a control blood sample in a few months at the patient’s general practi- Case report tioner. Control tests of the liver enzymes half a year later A previously healthy young man aged 21 was scheduled at the patient’s general practitioner showed an elevation for a septoplasty in general anesthesia in an ear, nose, of the liver enzymes. One year later, a control was and throat department of a German university hospital. undertaken and elevated liver enzymes were again The medical history included three operations with gen- reported. Therefore, the patient was admitted to a medi- eral anesthesia without any complications despite from cal hospital ward and a liver biopsy was performed. The nausea and vomiting. The patient has always been result of the liver biopsy was normal, and the patient healthy but was known to be a bad sportsman. Consul- received the diagnosis ‘unclear liver enzyme elevation’. tations of a pediatrician and orthopedician because of Three years after the operation, a new control blood bad condition and knee pain under exercise in early sample was taken with a broader range of laboratory childhood came to the conclusion that the boy had poor tests on request of the patient who was concerned about condition and patella problems and that he needed more his health status and started to worry about having an physical training. During the surgery, an episode with unknown and probably serious medical condition. The © 2013 John Wiley & Sons Ltd 817 Pediatric Anesthesia 23 (2013) 817–823 McArdle’s disease and anesthesia G. Bollig Table 1 Overview of F.M.’s anesthesias Age at Anesthetic agents and surgery Type of surgery Type of anesthesia neuromuscular blockers used Problems Comments 5 Otoplasty General anesthesia Halothane? No problems Inhalation induction 13 Otoplasty General anesthesia Unknown No intraoperative postoperative nausea problems and vomiting 19 Tonsillectomy General anesthesia Alfentanil, brevimytal, nitrous oxide No problems 21 Septoplasty General anesthesia Thiopentone, fentanyl, succinyl, Tachycardia + alfentanil, isoflurane, halothane hypotonia 25 Muscle biopsy arm General anesthesia Local anesthesia No problems 33 Osteochondroma left Spinal anesthesia + Local anesthesia No problems Use of tourniquet hand + bone graft regional anesthesia (upper arm) (ax. Plexusan.) without problems 36 Muscle biopsy leg Regional anesthesia Local anesthesia No problems In vitro contracture test (IVCT) result: malignant hyperthermia susceptible (MHS) 38 Septoplasty Local anesthesia Local anesthesia No problems Patients wish to use LA instead of general anesthesia as recommended by the surgeon patient F.M., born 1967, 183 cm, 80 kg; modified from (1) Workload (watt) Heartrate/min Bloodpressure (mmHg) Lactate (mM) 0 76 120/85 0.8 30 116 130/- 0.8 70 164 170/- 1 110 204 180/- 0.8 Heart rate/min Workload (watt) ) M Lactate (m Figure 1 Cycle ergometry of the patient Workload (watt) F.M. (modified from (1)). blood sample showed elevated liver enzymes again and knee pain under exercise, the medical history and an elevated creatine kinase level >5000 U/l. This led to clinical examination were normal. The patient had been referral to a neurologist, a muscle biopsy, and exercise working as paramedic and had observed that he was not testing of the patient. Apart from poor condition and as strong as his colleagues and that he sometimes 818 © 2013 John Wiley & Sons Ltd Pediatric Anesthesia 23 (2013) 817–823 G. Bollig McArdle’s disease and anesthesia experienced muscle cramps in the arms and hands after Just 4% of the cases are diagnosed before the age of carrying patients. A cycle exercise test revealed a high ten, most patients (50%) are diagnosed between the age heart rate in relation to the workload and a lacking rise of 10 and 30 (2). The true incidence of McAd is unknown of lactate under exercise (Figure 1). In combination with due to the benign character of the disease and the often a muscle biopsy and test for myophosphorylase activity late or missed diagnosis. The prevalence in the in the muscle sample, the diagnosis of McArdle’s disease Dallas–Fort Worth area has been estimated to be 1 in was confirmed. Later, a genetic test was performed. The 100 000 (6). patient was found to have the two mutations R50X (pre- Interestingly, the metabolic situation of patients with viously named R49X) and a previously unknown splice McAd is similar to the situation of marathon runners site mutation IVS10 (+1G-A) (1). Interestingly, in the after depletion of glycogen depots. Therefore, McArdle’s case of this patient, a cycle ergometry with lactate test- disease has been called a ‘nature-experiment’ (1). ing has been used instead of the classic ischemic forearm The prognosis of McAd is good in general, although test (1). Cycle ergometry is a safer test option for muscle wasting and weakness in late life have been patients with McAd than the classic forearm test, which described. There are some case reports with generalized according to McArdle can lead to massive rhabdomyol- weakness right after birth and death in childhood. Life ysis and bears a risk of acute renal failure. There was no expectancy in relation to cardiocirculatory diseases is positive family history for McArdle’s disease in the normal (1). It is important for the patients to learn how patient’s family. The whole family (parents and three to cope with the disease and how to avoid major muscle older sisters) was tested using cycle ergometry. One sis- damage, which can lead to acute rhabdomyolysis and ter was diagnosed to have McAd and the patients’ father renal failure. showed clinical symptoms of McAd but had a lactate The diagnosis of McAd is based on the clinical pic- elevation under exercise. Clinically this looked like a ture and description of the patient, the absence of dominant transmission, but autosomal recessive trans- increased lactate during the forearm ischemic exercise mission could be proved by genetic analysis later (1). At test or cycle ergometry, a low or absent myophosphor- the age of 36 a muscle biopsy was taken in regional anes- ylase activity on histochemical or biochemical exami- thesia and the result of an IVCT was that the patient nation of a muscle biopsy and genetic testing (1–4,7). was malignant hyperthermia susceptible (MHS). The most important laboratory investigation is crea- tine kinase, and hypercreatine kinase-emia can be the only sign of McArdle’s disease in childhood (8). The McArdle’s disease differential diagnosis includes metabolic myopathies McArdle‘s disease (McAd) was named after Brian such as mitochondrial myopathy, glycogen storage McArdle who first described the syndrome in 1951. It is myopathy, and impaired fatty acid and organic acid also known as glycogen storage disease type V, myo- metabolism; endocrine myopathies such as thyroid phosphorylase insufficiency, or myophosphorylase B myopathy; preclinical stage or carrier for muscular deficiency. Muscle pain, early fatigue, and especially dystrophy; congenital myopathies; inflammatory my- knee pain under exercise are the typical clinical signs of opathies; and MH (9). McAd. Usually, the pain disappears after resting for No specific treatment for the enzyme deficiency of some minutes. Others signs are exercise intolerance dur- patients with McAd has been found yet. Different treat- ing sport or physical activity, premature fatigue, myal- ment options have been shown to reduce symptoms or gia, stiffness, cramps, and myoglobinuria (2,3). to enhance the ability for physical activity in patients The cause of McAd is the lack of myophosphorylase with McAd. These are, for example, a low-dose oral cre- (alpha-1,4-glucan orthophosphate glycosyl transferase). atine (10) and ingestion of oral sucrose immediately Glycogen breakdown in the muscle is usually initiated prior to exercise (11). In some case reports, a possible by the enzyme myophosphorylase, which removes 1,4- benefit of the beta-2-sympathomimetics isoproterenol glycosyl groups from the glycogen molecule with release and clenbuterol has been described (1,12).