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
general anesthesia; glycogen storage
disease; glycogen storage disease type V;
malignant hyperthermia; McArdles disease;
perioperative complications
Correspondence
Georg Bollig, Department of Anesthesiology
and Intensive Care, Palliative Medicine and
Pain Therapy, HELIOS Klinikum Schleswig,
Schleswig, Germany
Email: [email protected]
Summary
McArdles disease (glycogen storage disease type v) is a rare condition in
which energy-metabolism in the muscle is hampered. A case report is presented and the possible risk for perioperative complications including malignant hyperthermia is discussed. A checklist for the anesthesiological
management of patients with McArdles disease is provided. A short overview
of anesthesiological challenges and perioperative complications of other glycogen storage diseases is given.
Section Editor: Barbara Brandom
Accepted 3 March 2013
doi:10.1111/pan.12164
Introduction
McArdle’s disease is a rare condition in which energy
metabolism in the muscle is hampered. A case report
will be presented, and the possible risk of perioperative
problems including malignant hyperthermia is discussed. In addition, a brief overview of anesthesiological
challenges and implications of glycogen storage diseases
will be given.
Case report
A previously healthy young man aged 21 was scheduled
for a septoplasty in general anesthesia in an ear, nose,
and throat department of a German university hospital.
The medical history included three operations with general anesthesia without any complications despite from
nausea and vomiting. The patient has always been
healthy but was known to be a bad sportsman. Consultations of a pediatrician and orthopedician because of
bad condition and knee pain under exercise in early
childhood came to the conclusion that the boy had poor
condition and patella problems and that he needed more
physical training. During the surgery, an episode with
© 2013 John Wiley & Sons Ltd
Pediatric Anesthesia 23 (2013) 817–823
tachycardia and hypotonia occurred. After the operation, the anesthesiologist informed the patient about the
event and the fact that he had elevated liver enzymes
(aspartate transaminase = AST, alanine transaminase =
ALT, and lactate dehydrogenase = LDH). An overview
of the patient’s anesthesiological history is given in
Table 1. Laboratory tests for hepatitis and HIV had
been undertaken without previous informed consent by
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 practitioner. Control tests of the liver enzymes half a year later
at the patient’s general practitioner showed an elevation
of the liver enzymes. One year later, a control was
undertaken and elevated liver enzymes were again
reported. Therefore, the patient was admitted to a medical hospital ward and a liver biopsy was performed. The
result of the liver biopsy was normal, and the patient
received the diagnosis ‘unclear liver enzyme elevation’.
Three years after the operation, a new control blood
sample was taken with a broader range of laboratory
tests on request of the patient who was concerned about
his health status and started to worry about having an
unknown and probably serious medical condition. The
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McArdle’s disease and anesthesia
G. Bollig
Table 1 Overview of F.M.’s anesthesias
Age at
surgery
Type of surgery
Type of anesthesia
Anesthetic agents and
neuromuscular blockers used
5
13
Otoplasty
Otoplasty
General anesthesia
General anesthesia
Halothane?
Unknown
19
21
Tonsillectomy
Septoplasty
General anesthesia
General anesthesia
25
33
Muscle biopsy arm
Osteochondroma left
hand + bone graft
36
Muscle biopsy leg
General anesthesia
Spinal anesthesia +
regional anesthesia
(ax. Plexusan.)
Regional anesthesia
38
Septoplasty
Local anesthesia
Problems
Comments
Inhalation induction
postoperative nausea
and vomiting
Alfentanil, brevimytal, nitrous oxide
Thiopentone, fentanyl, succinyl,
alfentanil, isoflurane, halothane
Local anesthesia
Local anesthesia
No problems
No intraoperative
problems
No problems
Tachycardia +
hypotonia
No problems
No problems
Local anesthesia
No problems
Local anesthesia
No problems
Use of tourniquet
(upper arm)
without problems
In vitro contracture test
(IVCT) result: malignant
hyperthermia
susceptible (MHS)
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)
Heartrate/min
Bloodpressure (mmHg)
0
30
70
110
76
116
164
204
120/85
130/170/180/-
Lactate (mM)
0.8
0.8
1
0.8
Heart rate/min
Workload (watt)
Lactate (mM)
Workload (watt)
Workload (watt)
blood sample showed elevated liver enzymes again and
an elevated creatine kinase level >5000 U/l. This led to
referral to a neurologist, a muscle biopsy, and exercise
testing of the patient. Apart from poor condition and
818
Figure 1 Cycle ergometry of the patient
F.M. (modified from (1)).
knee pain under exercise, the medical history and
clinical examination were normal. The patient had been
working as paramedic and had observed that he was not
as strong as his colleagues and that he sometimes
© 2013 John Wiley & Sons Ltd
Pediatric Anesthesia 23 (2013) 817–823
G. Bollig
experienced muscle cramps in the arms and hands after
carrying patients. A cycle exercise test revealed a high
heart rate in relation to the workload and a lacking rise
of lactate under exercise (Figure 1). In combination with
a muscle biopsy and test for myophosphorylase activity
in the muscle sample, the diagnosis of McArdle’s disease
was confirmed. Later, a genetic test was performed. The
patient was found to have the two mutations R50X (previously named R49X) and a previously unknown splice
site mutation IVS10 (+1G-A) (1). Interestingly, in the
case of this patient, a cycle ergometry with lactate testing has been used instead of the classic ischemic forearm
test (1). Cycle ergometry is a safer test option for
patients with McAd than the classic forearm test, which
according to McArdle can lead to massive rhabdomyolysis and bears a risk of acute renal failure. There was no
positive family history for McArdle’s disease in the
patient’s family. The whole family (parents and three
older sisters) was tested using cycle ergometry. One sister was diagnosed to have McAd and the patients’ father
showed clinical symptoms of McAd but had a lactate
elevation under exercise. Clinically this looked like a
dominant transmission, but autosomal recessive transmission could be proved by genetic analysis later (1). At
the age of 36 a muscle biopsy was taken in regional anesthesia and the result of an IVCT was that the patient
was malignant hyperthermia susceptible (MHS).
McArdle’s disease
McArdle‘s disease (McAd) was named after Brian
McArdle who first described the syndrome in 1951. It is
also known as glycogen storage disease type V, myophosphorylase insufficiency, or myophosphorylase B
deficiency. Muscle pain, early fatigue, and especially
knee pain under exercise are the typical clinical signs of
McAd. Usually, the pain disappears after resting for
some minutes. Others signs are exercise intolerance during sport or physical activity, premature fatigue, myalgia, stiffness, cramps, and myoglobinuria (2,3).
The cause of McAd is the lack of myophosphorylase
(alpha-1,4-glucan orthophosphate glycosyl transferase).
Glycogen breakdown in the muscle is usually initiated
by the enzyme myophosphorylase, which removes 1,4glycosyl groups from the glycogen molecule with release
of glucose-1-phosphate. Most patients with McArdle’s
disease have no detectable myophosphorylase activity.
McAd is an autosomal recessive disease although transmission appears to be autosomal dominant in some families (2–4). A positive family history can be found in
50% of the patients. The gene for myophosphorylase
has been assigned to chromosome 11q13, and the most
common mutation in Caucasians is R50X (5).
© 2013 John Wiley & Sons Ltd
Pediatric Anesthesia 23 (2013) 817–823
McArdle’s disease and anesthesia
Just 4% of the cases are diagnosed before the age of
ten, most patients (50%) are diagnosed between the age
of 10 and 30 (2). The true incidence of McAd is unknown
due to the benign character of the disease and the often
late or missed diagnosis. The prevalence in the
Dallas–Fort Worth area has been estimated to be 1 in
100 000 (6).
Interestingly, the metabolic situation of patients with
McAd is similar to the situation of marathon runners
after depletion of glycogen depots. Therefore, McArdle’s
disease has been called a ‘nature-experiment’ (1).
The prognosis of McAd is good in general, although
muscle wasting and weakness in late life have been
described. There are some case reports with generalized
weakness right after birth and death in childhood. Life
expectancy in relation to cardiocirculatory diseases is
normal (1). It is important for the patients to learn how
to cope with the disease and how to avoid major muscle
damage, which can lead to acute rhabdomyolysis and
renal failure.
The diagnosis of McAd is based on the clinical picture and description of the patient, the absence of
increased lactate during the forearm ischemic exercise
test or cycle ergometry, a low or absent myophosphorylase activity on histochemical or biochemical examination of a muscle biopsy and genetic testing (1–4,7).
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
differential diagnosis includes metabolic myopathies
such as mitochondrial myopathy, glycogen storage
myopathy, and impaired fatty acid and organic acid
metabolism; endocrine myopathies such as thyroid
myopathy; preclinical stage or carrier for muscular
dystrophy; congenital myopathies; inflammatory myopathies; and MH (9).
No specific treatment for the enzyme deficiency of
patients with McAd has been found yet. Different treatment options have been shown to reduce symptoms or
to enhance the ability for physical activity in patients
with McAd. These are, for example, a low-dose oral creatine (10) and ingestion of oral sucrose immediately
prior to exercise (11). In some case reports, a possible
benefit of the beta-2-sympathomimetics isoproterenol
and clenbuterol has been described (1,12). Other treatment options described in the literature are supplementation with vitamin B6 and coenzyme Q 10 (1).
Moderate physical activity with aerobic conditioning
is recommended by several authors (1,13,14). It has been
shown that mostly aerobic activity does not lead to an
increase in the creatine kinase level. Instead, moderate
cycling or hiking led to a decrease in the creatine kinase
in one case report (1).
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McArdle’s disease and anesthesia
Anesthesiological challenges and clinical
problems in McArdle’s disease
In general, patients with McAd have the potential of
perioperative complications, such as hypoglycemia,
rhabdomyolysis, myoglobinuria, acute renal failure,
postoperative fatigue, and possibly malignant hyperthermia.
Rhabdomyolysis, myoglobinuria, and acute renal
failure
Rhabdomyolysis, myoglobinuria, and acute renal failure
have been described in McAd. Myoglobinuria occurs in
50% of the patients with McArdle’s disease, and in
27%, acute renal failure has been described following
rhabdomyolysis after episodes of strenuous or vigorous
exercise (2). Some case reports of acute renal failure as
complication of McAd can be found in the literature.
Massive rhabdomyolysis and myoglobinuria have been
described after a diagnostic ischemic work test using a
tourniquet (15). Acute renal failure has been reported
after carrying a TV (16), after a swimming competition
(17), and after an asthmatic attack (18). One patient
died after multiple epileptic seizures and acute renal
failure (19).
McArdle’s disease and malignant hyperthermia
Some neuromuscular diseases probably have a higher
risk of developing malignant hyperthermia (MH) when
anesthetized with known triggering substances (20). The
in vitro contracture test (IVCT) for MH has been recommended to examine all patients with exercise-induced
rhabdomyolysis in addition to a muscle biopsy to establish a histological/histochemical diagnosis (21).
There is strong evidence for an association of MH
with some diseases as central core and multiminicore
myopathies, King–Denborough syndrome, and Brody
myopathy (22). An overview over different ‘unusual’
diseases and the risk of MH has been given by Davis
and Brandom (23). For most neuromuscular diseases
including McAd, an association with MH could not be
verified, and to our current knowledge, there is only a
weak evidence for an association of McAd with MH
(23). In a review and retrospective study of eight
McArdle patients with 23 general anesthesias, two of
the three patients tested had a positive IVCT and
should according to the general definition be classified
as MH susceptible (MHS). Only one of these patients
who received succinylcholine, a ‘possible reaction to
isoflurane’, was suspected. However, the patient did
not suffer from a fulminant reaction, the condition was
820
G. Bollig
normalized after general treatment of hypotension and
did not reoccur when halothane was used instead of
isoflurane after normalization of the blood pressure
(24). It was concluded that it was unlikely that this episode was an atypical form of MH. The case of this
patient and his medical history is described in detail
above. There are two existing case reports that discuss
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
was a noncardiogenic pulmonary edema and rhabdomyolysis reported after protamine administration in a
2-year-old boy with McAd operated for Fallot’s tetralogy (26). MH was suspected intraoperatively because
of rhabdomyolysis during general anesthesia with halothane. This assumption could not be confirmed, as
there was no muscle rigidity or rise in PaCO2 or body
temperature. So far, no conclusive evidence has shown
a relation of McAd with MH.
It has been stated that the in vitro contracture test is
less specific in patients with concomitant myopathies
(27). Probably, the muscles of patients with McAd are
more susceptible to muscle cramps and that this is a
nonspecific reaction. It could be the case that these
‘MH-like reactions’ are based on pathophysiological
mechanisms similar to but still different from MH
(27). Probably, patients with McArdle’s disease are
more susceptible to skeletal muscle injury in situations
when energy sources are scarce or a very high energy
demand occurs. Probably, a positive IVCT test result
in McArdle’s disease could just be a reaction of a muscle running out of fuel. Muscle cramps or rhabdomyolysis and myoglobinuria do occur in patients with
McArdle’s disease as reaction to different causes and
have a risk of developing renal failure due to rhabdomyolysis. Therefore, muscle ischemia as, for example,
caused by tourniquets should be avoided and shivering
prevented (24).
Anesthesiological challenges and clinical
problems in other glycogen storage diseases
Information on McArdle’s disease and the other glycogen
storage diseases can easily be obtained from the Internet
(http://mcardlesdisease.org, download 26.10.2012, http://
www.agsd.org.uk/Home/Welcome/tabid/1394/Default.as
px, download 26.10.2012, http://www.pompe-portal.de,
download 29.10.2012). Glycogen storage diseases can be
divided into two groups: muscle glycogenoses and liver
glycogenoses. There are just a few reports in the literature about glycogen storage diseases and anesthesia. A
literature search in PubMed/MEDLINE led to a number of 0 articles about glycogen storage diseases and
© 2013 John Wiley & Sons Ltd
Pediatric Anesthesia 23 (2013) 817–823
G. Bollig
McArdle’s disease and anesthesia
Table 2 Overview over glycogen storage diseases
Type of glycogen
storage disease
Enzyme defect
Inheritance
Organs
involved
Glycogen synthase
deficiency
Type I Von
Gierke disease
Glucose-6phosphatase
deficiency
Autosomal
recessive
Liver, kidney
Type II Pompe
disease
Acid maltase
deficiency
Autosomal
recessive
Muscle,
heart, liver
Hypotonia, muscle
weakness (progressive),
affection of proximal and
respiratory muscle, cardiac
enlargement and failure
17
Type III Cori
disease
Debrancher enzyme
deficiency
Autosomal
recessive
Liver, muscle,
heart
Growth retardation, muscle
weakness (liver cirrhosis
can occur)
3
Type IV
Andersen disease
Type V McArdle’s
disease
Branching enzyme
deficiency
Myophosphorylase
deficiency
Autosomal
recessive
Autosomal
recessive
Liver, kidney,
heart, muscle
Skeletal muscle
Mild hypoglycemia
0
Type VI Hers
disease
Type VII Tarui
disease
Liver phosphorylase
deficiency
Phosphofructokinase
deficiency
Autosomal
recessive
Autosomal
recessive
Liver
Mild hypoglycemia
0
Rhabdomyolysis,
myoglobinuria,
acute renal failure,
weak association
with MH, some
cases tested MHS
with IVCT (see
discussion in the
text and Table 3)
No reports found
Skeletal
muscle
0
No reports found
Type VIII
Phosphorylase b
kinase
deficiency
Phosphoglycerate
kinase deficiency
Phosphoglycerate
mutase deficiency
X-linked
recessive
Liver, brain
Muscle pain and fatigue on
exercise. Muscle cramps
and tenderness.
Ataxia, spasms, brain
degeneration
0
No reports found
X-linked
recessive
Autosomal
recessive
Liver
Mild hypoglycemia
0
No reports found
Liver, muscle
Exercise intolerance, muscle
pain
0
No reports found
Type X
Fasting hypoglycemia,
tiredness, looking pale,
vomiting, muscle cramps
Growth retardation,
hypoglycemia
Exercise intolerance muscle
cramps and muscle pain,
myoglobinuria on strenuous
exercise
0
Anesthesiological
challenges
(reference no.)
Type 0
Type IX
Liver
Clinical symptoms
PubMed
articles on
anesthesia
(n =)
14
12
No reports found
Hypoglycemia,
metabolic acidosis,
acute pancreatitis
after propofol
administration
(28–30)
Respiratory
insufficiency,
cardiomyopathy,
arrhythmias,
ventricular fibrillation
! Avoid propofol and
sevoflurane.
Ketamine
recommended for
induction. Enzyme
replacement
therapy possible
(31–33)
Hypoglycemia,
muscle weakness,
cardiomyopathy
(34,35)
No reports found
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
Pediatric Anesthesia 23 (2013) 817–823
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McArdle’s disease and anesthesia
anesthesia for type 0, IX, and X, 12 articles on glycogen
storage disease type V (McArdle’s disease) up to 17 articles on glycogen storage disease type II (Pompe disease).
Table 2 provides a brief overview over the different glycogen storage diseases and possible anesthesiological
challenges.
What should we do when giving anesthesia to
patients with McArdle’s disease or myopathies
with a possible association with MH?
There is only weak support from the scientific literature
for a connection between McAd and MH but there is
controversy and uncertainty. As long as it remains
unclear what a positive result of an IVCT means in
patients with myopathies, it may be wise to avoid MHtrigger substances as far as possible. There is no definite
answer whether inhaled induction can be recommend
based on the present state of scientific knowledge. Therefore, inhaled induction cannot be recommended as a safe
option for patients with McArdle’s disease so far (39). In
contrast to this conclusion, Benca and Hogan (40)
suggested that inhaled induction of anesthesia with
sevoflurane or desflurane may be an option to place an
IV catheter in patients with ‘rare enzyme defects’
(like McArdle’s disease). According to Litman and
Rosenberg, there is still uncertainty about recommendations which patient groups do need a nontriggering technique and ‘…even the most authoritative MH experts
were not sure and could not agree!’ (22). Until it has been
proven that a positive IVCT in McAd is nonspecific and
that there is no risk of MH at all, one should treat
patients with McArdle’s disease as patients with the risk
of developing MH or at least MH-like syndromes. Anesthesia for patients with McArdle’s disease should therefore avoid MH-trigger substances and consider the
recommendations shown in Table 3, if not otherwise
contraindicated (24). A similar strategy has been recommended by Choleva (41). On the other hand, there probably is an exception from this rule and a place for
inhalation induction in children who suffer from myopathies with a weak association with MH, as McArdle’s disease, if there is no possibility to place an IV catheter in
the starting phase of general anesthesia. From the
author’s point of view, this could be acceptable but a
nontriggering technique should be preferred for safety
reasons whenever possible.
As Davis and Brandom (23) as well as Veyckemans (42)
have stated before that there is a need for a better definition of risk and more clinical data including an International Register for Anesthesia in children and adults with
myopathies. This could lead to evidence-based recommendations for anesthesia in this patient group in the future.
822
G. Bollig
Table 3 Checklist for the anesthesiological management of patients
with McArdle’s disease
A. For all patients with McArdle’s disease:
Pre- and postoperative laboratory investigations:
Creatine kinase, lactate dehydrogenase, transaminases, creatinine
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)
Forced diuresis can be used to prevent renal failure in patients with
myoglobinuria and high CK
B. For all patients with McArdle’s disease who are malignant
hyperthermia susceptible (=MHS) or not tested negative with the in
vitro contracture test
Loco/regional anesthesia if possible (and accepted by the patient)
No prophylactic dantrolene
Make sure that dantrolene is immediately available if needed
Monitoring with ECG, blood pressure, SaO2 and PETCO2
The combination of capnography and low-flow anesthesia can help to
detect a rise in CO2 at an early stage
Consider if high risk to use central venous and arterial
catheterization, with frequent blood gas analysis
Consider 24-hour postoperative supervision in an intensive care unit
Do not use MH-trigger substances as:
depolarizing muscle relaxants of type succinylcholine
All volatile anesthetics including halothane, enflurane, isoflurane,
sevoflurane, desflurane
’Safe’ drugs can be used for MH-susceptible patients:
Nitrous oxide
Xenon
Intravenous anesthetics, such as barbiturates, propofol, etomidate
Benzodiazepines
Opioids
All nondepolarizing muscle relaxants
Anticholinesterases and parasympatholytica
Local anesthetics (ester and amide type)
Catecholamines (if indicated)
’Safe’ drugs that can be used for MH-susceptible patients (but can
cause sympathetic stimulation and/or a rise in body temperature)
Ketamine
Atropine
Neuroleptika (butyrophenone and phenothiazine type)
C. Be aware of clinical signs of MH:
Increased oxygen consumption
Rise in blood pressure
Tachycardia
Rise in ETCO2
Tachypnea during spontaneous ventilation
Rise of temperature >2°C
D. Measures in case of suspicious of intraoperative MH crisis:
Treat as malignant hyperthermia according to present
guidelines
Stop all potential trigger substances
100% oxygen/normoventilation
Finish/stop surgery as soon as possible
Infusion of dantrolene 2.5 mg/kg i.v. initially can be repeated
Other measures according to the clinical situation (buffer, betablockade, cooling, diuretics, etc.)
Laboratory investigations: CK, lactate, myoglobin in serum and urine,
glucose in serum, transaminases, and creatinine.
© 2013 John Wiley & Sons Ltd
Pediatric Anesthesia 23 (2013) 817–823
G. Bollig
McArdle’s disease and anesthesia
Acknowledgments
Conflict of interest
This research was carried out without funding.
No conflicts of interest declared.
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