[MIM 232 300]

(Glycogen storage disease type II, deficiency in acid maltase) 

Prevalence: 1/40,000. Autosomal recessive transmision of a deficiency in α1-4-glucosidase or acid maltase that leads to the accumulation of glycogen in the lysosomes of striated, cardiac and smooth muscles. 

Three clinical forms are described:

-         infantile form (1/140,000) in case of complete enzyme deficiency): onset of symptoms around the age of 1 to 2 months; severe cardiac involvement (hypertrophic cardiomyopathy), macroglossia, muscular hypotonia, important hepato- and cardiomegaly; in the absence of enzymatic treatment,  death due to heart failure between 6 and 9 months of age

-         juvenile form (1/50,000): onset before the age of 10 years; less severe, rare cardiac involvement; progressive muscle weakness, mostly proximal with waddling walking; usually death before the 20th year from respiratory failure;

-         adult or late form: onset around the age of 30-40 years;  progressive muscle weakness; sometimes chronic respiratory failure but no cardiac involvement; little limited life expectancy.

Substitutive treatment with the recombinant enzyme (alglucosidase alpha, Myozymea) every 2 weeks. An immunomodulator (methotrexate, cyclophosphamide, rituximab) treatment is sometimes associated to avoid the appearance of antibodies directed against the recombinant enzyme. The result of this treatment is variable (35% of death, 35% live and 30% on respirator support). It depends also of the age of the start of treatment and the age at diagnosis: an early treatment gives better results. Treatment quickly reduces the mass of the left ventricle, but the effect on striated muscles is less spectacular. In addition, in a cohort of children who responded well to the treatment from a cardiac point of view, there was the gradual onset of hypotonia of the facial muscles, mild dysarthria, dysphagia (due to contraction of pharyngeal muscles with aspiration of saliva or food) and deafness. The impairment of the bulbar muscles and respiratory muscles leads to recurrent respiratory infections with a risk of respiratory failure and prolonged intubation. However, elective intubation for anesthesia does not seem to result in an increased risk of prolonged ventilation.

Anesthetic implications: 

infantile form, before or at the start of enzymotherapy: hypertrophic tongue. Possibly difficult intubation. Preoperative ECG and echocardiography. Large hypertrophic cardiomyopathy: risk of coronary ischemia  in case of hypovolemia or hypotension. Monitoring of the ST segment. Avoid succinylcholine (risk of rhabdomyolysis). Avoid any hypovolemia (infusion at the beginning of the fasting period), and tachycardia. Both propofol and sevoflurane can lead to hypotension and rhythm disorders by coronary ischemia and are  thus to be avoided. Prefer ketamine or etomidate; esmolol or phenylephrine in case of tachycardia. 

For any non-urgent procedure, it is better to start the enzymatic therapy through peripheral IV line and wait for a significant decrease of the myocardial hypertrophy on echocardiography.

 

Infantile form already treated by enzyme: preoperative ECG and echocardiography to evaluate cardiac response to treatment; risk of cardiac rhythm disorders. Risk of respiratory failure and aspiration.

Late form : evaluation of the respiratory function: classical respiratory tests, cough; to evaluate the possible weakness of the diaphragm, compare vital capacity measurements in the standing and supine positions: a 10 % decrease in supine position is a sign of moderate damage of the diaphragm; a decrease of 30% or more is a sign of severe impairment. SGOT, SGPT and CPK levels are moderately elevated and are a sign of muscle involvement.

References : 

-         Ing RJ, Cook DR, Bengur RA, Williams EA, Eck J, Dear G, Ross AK, Kern FH, Kishani PS. 
Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. 
Paediatr Anaesth 2004; 14: 514-9.

-         Walker RWM, Briggs G, Bruce J, Fletcher J, Wraith ED. 
Regional anesthetic techniques are an alternative to general anesthesia for infants with Pompe’s disease. 
Pediatr Anesth 2007; 17: 697-702.

• Wang LYJ, Ross AK, Li JS, Dearmey SM, Mackey JF, Wordens M, Corzos D, Morgan C, Kishani PS. 
  Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series. 
  Pediatr Anesth 2007; 17: 738-48.

• Chakrapani A, Vellodi A, Robinson P, Jones S, Wraith JE. 
  Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. 
  J Inherit Metab Dis 2010; 33:747-50.
• van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I et al. 
  Facial muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. 
  J Inherit Metab Dis 2012; 35: 505-11.
• Cilliers HJ, Yeo ST, Salmon NP. 
  Anaesthetic management of an obstetric patient with Pompe disease. 
  Int J Obstetr Anaesth 2008; 17: 170-3.
• Kumbar V, Simha J,Gundappa P. 
  Anaesthetic management of a patient with Pompe disease for kyphoscoliosis correction. 
  Indian J Anaesth 2016; 60:349-51.
• Bosman L, Hoeks SE, Candel AG, van den Hout HJM, van der Ploeg AT, Staals LM.
  Perioperative management of children with glycogen storage type II - Pompe disease.
  Pediatr Anesth 2018; 28: 428-35.
• Brenn BR, Theroux MT, Shah SA, Mackenzie WG, Heinle R, Scavina MT.
  Critical airway stenosis in an adolescent male with Pompe disease and thoracic lordosis: a case report.
  A&A Case Reports 2017; 9: 199-203.
• Yang C-F, Niu D-M, Tai S-K, Wang T-H et al.
  Airway abnormalities in very early treated infantile-onset Pompe disease: a large-scale survey by flexible bronchoscopy.
  Am J Med Genet 2020; in press

Updated: January 2020