(Glycogen Storage Disease Type V) and Anesthesia a Case Report And

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 malignant 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

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 creatine 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). Other treat- of glucose-1-phosphate. Most patients with McArdle’s ment options described in the literature are supplemen- disease have no detectable myophosphorylase activity. tation with vitamin B6 and coenzyme Q 10 (1). McAd is an autosomal recessive disease although trans- Moderate physical activity with aerobic conditioning mission appears to be autosomal dominant in some fam- is recommended by several authors (1,13,14). It has been ilies (2–4). A positive family history can be found in shown that mostly aerobic activity does not lead to an 50% of the patients. The gene for myophosphorylase increase in the creatine kinase level. Instead, moderate has been assigned to chromosome 11q13, and the most cycling or hiking led to a decrease in the creatine kinase common mutation in Caucasians is R50X (5). in one case report (1).

normalized after general treatment of hypotension and Anesthesiological challenges and clinical did not reoccur when halothane was used instead of problems in McArdle’s disease isoflurane after normalization of the blood pressure In general, patients with McAd have the potential of (24). It was concluded that it was unlikely that this epi- perioperative complications, such as hypoglycemia, sode was an atypical form of MH. The case of this rhabdomyolysis, myoglobinuria, acute renal failure, patient and his medical history is described in detail postoperative fatigue, and possibly malignant hyper- above. There are two existing case reports that discuss thermia. a possible connection of McAd and MH (25,26). In one case, the family of a 6-year-old boy with McAd had a family history of MH (25). The other case report Rhabdomyolysis, myoglobinuria, and acute renal was a noncardiogenic pulmonary edema and rhabd- failure omyolysis reported after protamine administration in a Rhabdomyolysis, myoglobinuria, and acute renal failure 2-year-old boy with McAd operated for Fallot’s tetral- have been described in McAd. Myoglobinuria occurs in ogy (26). MH was suspected intraoperatively because 50% of the patients with McArdle’s disease, and in of rhabdomyolysis during general anesthesia with halo- 27%, acute renal failure has been described following thane. This assumption could not be confirmed, as rhabdomyolysis after episodes of strenuous or vigorous there was no muscle rigidity or rise in PaCO2 or body exercise (2). Some case reports of acute renal failure as temperature. So far, no conclusive evidence has shown complication of McAd can be found in the literature. a relation of McAd with MH. Massive rhabdomyolysis and myoglobinuria have been It has been stated that the in vitro contracture test is described after a diagnostic ischemic work test using a less specific in patients with concomitant myopathies tourniquet (15). Acute renal failure has been reported (27). Probably, the muscles of patients with McAd are after carrying a TV (16), after a swimming competition more susceptible to muscle cramps and that this is a (17), and after an asthmatic attack (18). One patient nonspecific reaction. It could be the case that these died after multiple epileptic seizures and acute renal ‘MH-like reactions’ are based on pathophysiological failure (19). mechanisms similar to but still different from MH (27). Probably, patients with McArdle’s disease are more susceptible to skeletal muscle injury in situations McArdle’s disease and malignant hyperthermia when energy sources are scarce or a very high energy Some neuromuscular diseases probably have a higher demand occurs. Probably, a positive IVCT test result risk of developing malignant hyperthermia (MH) when in McArdle’s disease could just be a reaction of a mus- anesthetized with known triggering substances (20). The cle running out of fuel. Muscle cramps or rhabdomyol- in vitro contracture test (IVCT) for MH has been recom- ysis and myoglobinuria do occur in patients with mended to examine all patients with exercise-induced McArdle’s disease as reaction to different causes and rhabdomyolysis in addition to a muscle biopsy to estab- have a risk of developing renal failure due to rhabd- lish a histological/histochemical diagnosis (21). omyolysis. Therefore, muscle ischemia as, for example, There is strong evidence for an association of MH caused by tourniquets should be avoided and shivering with some diseases as central core and multiminicore prevented (24). myopathies, King–Denborough syndrome, and Brody myopathy (22). An overview over different ‘unusual’ Anesthesiological challenges and clinical diseases and the risk of MH has been given by Davis problems in other glycogen storage diseases and Brandom (23). For most neuromuscular diseases including McAd, an association with MH could not be Information on McArdle’s disease and the other glycogen verified, and to our current knowledge, there is only a storage diseases can easily be obtained from the Internet weak evidence for an association of McAd with MH (http://mcardlesdisease.org, download 26.10.2012, http:// (23). In a review and retrospective study of eight www.agsd.org.uk/Home/Welcome/tabid/1394/Default.as McArdle patients with 23 general anesthesias, two of px, download 26.10.2012, http://www.pompe-portal.de, the three patients tested had a positive IVCT and download 29.10.2012). Glycogen storage diseases can be should according to the general definition be classified divided into two groups: muscle glycogenoses and liver as MH susceptible (MHS). Only one of these patients glycogenoses. There are just a few reports in the litera- who received succinylcholine, a ‘possible reaction to ture about glycogen storage diseases and anesthesia. A isoflurane’, was suspected. However, the patient did literature search in PubMed/MEDLINE led to a num- not suffer from a fulminant reaction, the condition was ber of 0 articles about glycogen storage diseases and

Table 2 Overview over glycogen storage diseases

PubMed articles on Anesthesiological Type of glycogen Organs anesthesia challenges storage disease Enzyme defect Inheritance involved Clinical symptoms (n =) (reference no.)

Type 0 Glycogen synthase Liver Fasting hypoglycemia, 0 No reports found deficiency tiredness, looking pale, vomiting, muscle cramps Type I Von Glucose-6- Autosomal Liver, kidney Growth retardation, 14 Hypoglycemia, Gierke disease phosphatase recessive hypoglycemia metabolic acidosis, deficiency acute pancreatitis after propofol administration (28–30) Type II Pompe Acid maltase Autosomal Muscle, Hypotonia, muscle 17 Respiratory disease deficiency recessive heart, liver weakness (progressive), insufficiency, affection of proximal and cardiomyopathy, respiratory muscle, cardiac arrhythmias, enlargement and failure ventricular fibrillation ! Avoid propofol and sevoflurane. Ketamine recommended for induction. Enzyme replacement therapy possible (31–33) Type III Cori Debrancher enzyme Autosomal Liver, muscle, Growth retardation, muscle 3 Hypoglycemia, disease deficiency recessive heart weakness (liver cirrhosis muscle weakness, can occur) cardiomyopathy (34,35) Type IV Branching enzyme Autosomal Liver, kidney, Mild hypoglycemia 0 No reports found Andersen disease deficiency recessive heart, muscle Type V McArdle’s Myophosphorylase Autosomal Skeletal muscle Exercise intolerance muscle 12 Rhabdomyolysis, disease deficiency recessive cramps and muscle pain, myoglobinuria, myoglobinuria on strenuous acute renal failure, exercise weak association with MH, some cases tested MHS with IVCT (see discussion in the text and Table 3) Type VI Hers Liver phosphorylase Autosomal Liver Mild hypoglycemia 0 No reports found disease deficiency recessive Type VII Tarui Phosphofructokinase Autosomal Skeletal Muscle pain and fatigue on 0 No reports found disease deficiency recessive muscle exercise. Muscle cramps and tenderness. Type VIII Phosphorylase b X-linked Liver, brain Ataxia, spasms, brain 0 No reports found kinase recessive degeneration deficiency Type IX Phosphoglycerate X-linked Liver Mild hypoglycemia 0 No reports found kinase deficiency recessive Type X Phosphoglycerate Autosomal Liver, muscle Exercise intolerance, muscle 0 No reports found mutase deficiency recessive pain

Information provided in this table is based on (2,5,24–38) and http://mcardlesdisease.org, http://www.agsd.org.uk/Home/Welcome/tabid/1394/ Default.aspx, http://www.pompe-portal.de

© 2013 John Wiley & Sons Ltd 821 Pediatric Anesthesia 23 (2013) 817–823 McArdle’s disease and anesthesia G. Bollig anesthesia for type 0, IX, and X, 12 articles on glycogen Table 3 Checklist for the anesthesiological management of patients storage disease type V (McArdle’s disease) up to 17 arti- with McArdle’s disease cles on glycogen storage disease type II (Pompe disease). A. For all patients with McArdle’s disease: Table 2 provides a brief overview over the different gly- Pre- and postoperative laboratory investigations: cogen storage diseases and possible anesthesiological Creatine kinase, lactate dehydrogenase, transaminases, creatinine challenges. Glucose infusion can ensure availability of energy substrates Avoid the use of tourniquets (ischemia can lead to muscle damage) Avoid shivering (which can lead to muscle damage) What should we do when giving anesthesia to Forced diuresis can be used to prevent renal failure in patients with patients with McArdle’s disease or myopathies myoglobinuria and high CK B. For all patients with McArdle’s disease who are malignant with a possible association with MH? hyperthermia susceptible (=MHS) or not tested negative with the in There is only weak support from the scientific literature vitro contracture test for a connection between McAd and MH but there is Loco/regional anesthesia if possible (and accepted by the patient) No prophylactic dantrolene controversy and uncertainty. As long as it remains Make sure that dantrolene is immediately available if needed unclear what a positive result of an IVCT means in Monitoring with ECG, blood pressure, SaO2 and PETCO2 patients with myopathies, it may be wise to avoid MH- The combination of capnography and low-flow anesthesia can help to trigger substances as far as possible. There is no definite detect a rise in CO2 at an early stage answer whether inhaled induction can be recommend Consider if high risk to use central venous and arterial based on the present state of scientific knowledge. There- catheterization, with frequent blood gas analysis fore, inhaled induction cannot be recommended as a safe Consider 24-hour postoperative supervision in an intensive care unit Do not use MH-trigger substances as: option for patients with McArdle’s disease so far (39). In depolarizing muscle relaxants of type succinylcholine contrast to this conclusion, Benca and Hogan (40) All volatile anesthetics including halothane, enflurane, isoflurane, suggested that inhaled induction of anesthesia with sevoflurane, desflurane sevoflurane or desflurane may be an option to place an ’Safe’ drugs can be used for MH-susceptible patients: IV catheter in patients with ‘rare enzyme defects’ Nitrous oxide (like McArdle’s disease). According to Litman and Xenon Rosenberg, there is still uncertainty about recommenda- Intravenous anesthetics, such as barbiturates, propofol, etomidate Benzodiazepines tions which patient groups do need a nontriggering tech- … Opioids nique and ‘ even the most authoritative MH experts All nondepolarizing muscle relaxants were not sure and could not agree!’ (22). Until it has been Anticholinesterases and parasympatholytica proven that a positive IVCT in McAd is nonspecific and Local anesthetics (ester and amide type) that there is no risk of MH at all, one should treat Catecholamines (if indicated) patients with McArdle’s disease as patients with the risk ’Safe’ drugs that can be used for MH-susceptible patients (but can of developing MH or at least MH-like syndromes. Anes- cause sympathetic stimulation and/or a rise in body temperature) Ketamine thesia for patients with McArdle’s disease should there- Atropine fore avoid MH-trigger substances and consider the Neuroleptika (butyrophenone and phenothiazine type) recommendations shown in Table 3, if not otherwise C. Be aware of clinical signs of MH: contraindicated (24). A similar strategy has been recom- Increased oxygen consumption mended by Choleva (41). On the other hand, there proba- Rise in blood pressure bly is an exception from this rule and a place for Tachycardia inhalation induction in children who suffer from myopa- Rise in ETCO2 Tachypnea during spontaneous ventilation thies with a weak association with MH, as McArdle’s dis- Rise of temperature >2°C ease, if there is no possibility to place an IV catheter in D. Measures in case of suspicious of intraoperative MH crisis: the starting phase of general anesthesia. From the Treat as malignant hyperthermia according to present author’s point of view, this could be acceptable but a guidelines nontriggering technique should be preferred for safety Stop all potential trigger substances reasons whenever possible. 100% oxygen/normoventilation As Davis and Brandom (23) as well as Veyckemans (42) Finish/stop surgery as soon as possible Infusion of dantrolene 2.5 mg/kg i.v. initially can be repeated have stated before that there is a need for a better defini- Other measures according to the clinical situation (buffer, beta- tion of risk and more clinical data including an Interna- blockade, cooling, diuretics, etc.) tional Register for Anesthesia in children and adults with Laboratory investigations: CK, lactate, myoglobin in serum and urine, myopathies. This could lead to evidence-based recommen- glucose in serum, transaminases, and creatinine. dations for anesthesia in this patient group in the future.

Acknowledgments Conﬂict of interest This research was carried out without funding. No conﬂicts of interest declared.

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