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EMERGENCY ALERT

Mucopolysaccharidosis VI (MPS VI) and Morquio A (MPS IVA) patients are at high risk for cervical cord injury that can lead to paralysis, serious anesthesia complications, and cardiopulmonary emergencies during all surgical interventions.1,2

Please click on the below to view more information, images and videos.

IMMEDIATELY STABILIZE THE NECK TO AVOID CERVICAL CORD INJURY.

    Patients with MPS VI and Morquio A are at significant risk for cervical cord injury. Immediately stabilizing the neck will prevent potential injury to the cervical spine that may otherwise result in paralysis.1,2

    RISKS

  • Patients with MPS VI and Morquio A may experience atlantoaxial instability,3-5 commonly associated with cervical cord compression and myelopathy.
  • Cervical spine involvement puts patients with MPS at significant risk of cervical cord injury, paralysis, and sudden, premature death.6

    • RECOMMENDATIONS

  • Immediately stabilize the neck to reduce the risk of cervical cord injury.7
  • Assume that the degree of flexion/extension should be limited due to laxity of ligaments, with or without odontoid dysplasia and cervical stenosis, to avoid cervical cord compression.1,2,5,8
  • Maintain the patient in a neutral position during intubation as the “sniff” position may not be possible for patients with MPS VI or Morquio A.7,9
  • Use manual in-line stabilization to prevent cervical spine injury.7
  • Intubate using fiberoptic intubation or video laryngoscopy.7
  • Consider neurophysiological monitoring for all patients undergoing prolonged (more than 30 minute) procedures or all procedures involving spine or manipulation of head (oral surgery, etc).7
  • Maintain rest of spinal column in neutral position as compression may occur in other regions7

AN EXPERIENCED OTOLARYNGOLOGIST (ENT) SHOULD BE READILY AVAILABLE DUE TO POTENTIAL NEED FOR EMERGENCY TRACHEOSTOMY, AND OTHER RESPIRATORY COMPLICATIONS.1,2

    In an airway anesthesia emergency, there may be less than 3–5 minutes to perform an emergency tracheostomy in a patient with MPS VI or Morquio A before permanent brain damage occurs.10 See video of airway obstructions.

    RISKS

  • Respiratory failure and airway-related emergencies are reported as a common cause of morbidity for MPS patients,6 especially during surgical interventions.11-13
  • Respiratory function is severely limited in patients with MPS VI14 and Morquio A.3
  • Respiratory complications with severe hypoxemia resulting in neurological impairment are possible during use of ANY sedative, not just in a surgical setting.7
  • Patients with MPS may have obstructive sleep apnea (OSA), increasing the risk for airway emergencies. Potential for chronic hypoxemia exists due to OSA.7
  • Airway obstructions can lead to mask ventilation and intubation difficulties and it may not be possible to visualize the airway.7
  • Temporomandibular joint (TM) contracture with difficulty opening mouth, and accumulation of glycosaminoglycans (GAGs) in the tongue, oral pharynx, and larynx can impede access to upper airway and identification of the glottis.7
  • This may result in negative pressure pulmonary edema, or an inability to ventilate/intubate7 or visualize the airway.15,16
  • Critical decreases in oxygen saturation may occur suddenly during anesthesia care and surgical interventions.7
  • Serious complications may occur during extubation, including pulmonary edema and the need for reintubation or emergency tracheostomy.7

    • RECOMMENDATIONS

  • Always have an experienced otolaryngologist (ENT), preferably with MPS experience, readily available during any surgical procedure on patients with MPS VI and Morquio A due to the high potential for an emergency tracheostomy.7
  • Ensure the ENT is aware that performing an emergency tracheostomy in a patient with MPS is more difficult, has a higher risk, and will take longer than in an unaffected individual, due to shortened neck, thickened soft tissue, and the depth of the trachea.7
  • Be prepared for alternative methods of intubation such as fiberoptic intubation if mask induction followed by oral tracheal intubation is unsuccessful.7
  • Be aware that an oral anxiolytic may reduce anxiety and improve ability for fiberoptic intubation―but if the patient falls asleep, he or she can desaturate to dangerous levels due to upper airway obstruction.7
  • Have the pre-op nurse closely monitor oxygen saturation and call the anesthesia team immediately if changes in oxygen saturation occur.7
  • Provide supplemental O2 due to potential for difficulty in ventilation and oxygenation.9
  • Consider use of nitrous oxide to assist in placement of an intravenous catheter followed by induction with midazolam or fentanyl (reversed by flumazenil and naloxone, if required).7
  • Consider placing the patient in lateral position during induction phase if that position improves the patient’s airway.7
  • Use fiberoptic bronchoscopy for tracheal induction when patient has a difficult airway.7
  • Use of a laryngeal mask airway (LMA) or nasal airway has been found to improve ventilation during bronchoscopy.7
  • Avoid use of muscle relaxants until endotracheal intubation is achieved.7
  • Use an endotracheal tube that is smaller than expected for age.7
  • In order to increase oxygen delivery to the patient during fiberoptic bronchoscopy, consider advancing a short endotracheal tube into the contralateral nares in order to provide continuous O2 into hypopharynx. Also, consider attaching O2 to the suction port of the bronchoscope and intermittently injecting O2 from tip of fiber.17
  • Ensure full reversal of the muscle relaxant and place a nasopharyngeal airway prior to extubation.7
  • Perform extubation in an area that has access to the full medical personnel required should the patient need immediate reintubation or an emergency tracheostomy.7

DO NOT EXTUBATE POST-OPERATIVELY UNLESS THERE IS SUFFICIENT SPACE IN THE NOSE OR MOUTH FOR PASSAGE OF AIR.

    Difficult intubations may result in injury to the glottis or airway collapse. If a patient with MPS VI or Morquio A is extubated, reintubation may not be possible, creating a potential emergency.7 See video for anesthesia techniques.

    RISKS

  • Difficult intubation may result in injury to the glottis and airway collapse.7
  • Stridor, lower airway collapse, and infection may occur post-extubation.7
  • Potential for chronic hypoxemia exists due to obstructive sleep apnea (OSA).7

    • RECOMMENDATIONS

  • Do not extubate until the airway is confirmed to be clear.7
  • Always have an experienced otolaryngologist (ENT) or pediatric surgeon in the room during all surgical procedures on patients with MPS VI and Morquio A due to the high potential for an emergency tracheostomy.7

MAINTAIN ONGOING CARDIAC MONITORING.

    Cardiac valve disease is the most commonly reported cardiac manifestation experienced by patients with MPS VI and Morquio A3,14,18 and may increase risk of mortality during surgical procedures.7

    RISKS

  • Significant cardiac manifestations are reported for patients with both MPS VI14 and Morquio A.3
  • Irreversible ischemia and cardiac arrest due to hypotension may occur.7

    • RECOMMENDATIONS

  • Monitor patient with electrocardiogram (ECG).1-3
  • Perform an ECG to identify conduction abnormalities and signs of myocardial ischemia.1,2,19
  • Perform an echocardiogram to identify cardiac valve regurgitation or stenosis as well as decreased function.1,2,19
  • Monitor blood pressure using intra-arterial cannulae when surgery may be lengthy or high risk.7
glottis

What ARE MPS VI AND Morquio A?

Mucopolysaccharidoses (MPS) are lysosomal storage diseases. People with MPS lack enzymes that break down glycosaminoglycans (GAGs). Without these enzymes, certain GAGs accumulate in organ systems. Patients with MPS VI (also known as Maroteaux-Lamy syndrome) lack the enzyme N-acetylgalactosamine‑4‑sulfatase (also known as arylsulfatase B, or ASB), resulting in an accumulation of dermatan sulfate (DS) in the soft and connective tissues.19 Patients with Morquio A (also referred to as MPS IVA) have a deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), resulting in accumulation of keratan sulfate (KS) in connective tissue.20

The multisystemic symptoms of MPS VI and Morquio A become evident as GAGs build up in the tissue,21 which may result in skeletal, cardiopulmonary, ocular, and auditory manifestations of the disease.

Multisystemic manifestations of MPS VI and Morquio A

References

  1. Akyol MU, Alden TD, Amartino H, et al. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):137.
  2. Akyol MU, Alden TD, Amartino H, et al. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):118.
  3. Harmatz P, Mengel KE, Giugliani R, et al. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109(1):54-61.
  4. Solanki GA, Lo WB, Hendriksz CJ. MRI morphometric characterisation of paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome). J Inherit Metab Dis. 2013;36(2):329-337.
  5. Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007;30(2):165-174.
  6. White KK, Harmatz P. Orthopedic management of mucopolysaccharide disease. J Pediatr Rehabil Med. 2010;3(1):47-56.
  7. Walker R, Belani KG, Braunlin EA, et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):211-219.
  8. Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010;5:5.
  9. Rapoport DM, Mitchell JJ. Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses. Mol Genet Metab. 2017;122S:49-54.
  10. Harding M, Kwong J, Roberts D, Hagler D, Reinisch C. Lewis’s Medical-Surgical Nursing [Kindle]. 11th ed. New York, NY: Elsevier; 2020.
  11. Vairo F, Federhen A, Baldo G, et al. Diagnostic and treatment strategies in mucopolysaccharidosis VI. Appl Clin Genet. 2015;30(8):245-255.
  12. Golda A, Jurecka A, Opoka-Winiarska V, Tylki-Szymanska A: Mucopolysaccharidosis type VI: a cardiologist’s guide to diagnosis and treatment. Int J Cardiol. 2013;167(1):1-10.
  13. Algahim MF, Almassi GH. Current and emerging management options for patients with Morquio A syndrome. Ther Clin Risk Manag. 2013;9:45-53.
  14. Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet A. 2005;134A(2):144-150.
  15. Hendriksz CJ, Harmatz P, Beck M, et al. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab. 2013;110(1-2):54-64.
  16. Gönüldaş B, Yilmaz T, Sivri HS, et al. Mucopolysaccharidosis: otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway. Int J Pediatr Otorhinolaryngol. 2014;78(6):944-949.
  17. Cote C, Lerman J, Anderson B. A Practice of Anesthesia for Infants and Children. 6th ed. New York, NY: Elsevier; 2019.
  18. Northover H, Cowie RA, Wraith JE. Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis. 1996;19(3):357-365.
  19. Braunlin EA, Harmartz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183-1197.
  20. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001:3421-3452.
  21. Berger KI, Fagondes SC, Giugliani R, et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201-210.
  22. Hendriksz CJ, Al-Jawad M, Berger KI, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis. 2013;36(2):309-322.
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