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“Now we can change the natural history of the disease!” – Dr. Jordi Pérez López

Anaesthesiologists’ role in coordinated care: driving optimal outcomes in MPS management

Coordinated, multidisciplinary care is critical in the management of complex multisystemic genetic diseases1

Decades of ongoing research and clinical experience have produced a new era in the optimal management of mucopolysaccharidosis (MPS) disorders. This rapidly evolving standard of care for MPS relies on the geneticist at the centre of a healthcare delivery model that embodies coordinated, multidisciplinary care and provides physicians unmatched opportunities to change patients’ lives.1–3

Optimising patient outcomes requires coordinated care.1–3

Facilitating efficient coordination of clinicians across specialities3

The heterogeneous and variable nature of MPS disorders necessitates a personalised approach to coordinated patient care. The aim of coordinated care is to help patients achieve a greater quality of life, which includes:

  • More active lives with MPS disorders
  • Sustained ability to achieve activities of daily living
  • Empowerment through participation in optimising their own outcomes3

For paediatric patients with chronic, complex, multisystemic genetic diseases such as MPS, coordinated care is associated with reduction in healthcare utilisation and improved health outcomes.4-7

Prompt diagnosis and comprehensive multisystemic baseline evaluation at diagnosis and prior to enzyme replacement therapy (ERT) with a coordinated team is a critical first step toward establishing an individualised management plan.1

Coordination must be implemented across all elements of the broader healthcare system (e.g. speciality care, hospitals, home healthcare, and community services) and within patients’ individualised management plans.3
Patients with MPS have a high surgical burden and require careful anaesthetic care; the role of the anaesthesiologist in perioperative care is critical to optimise patient outcomes.9

To address the underlying cause and multisystemic complications of MPS, a coordinated approach consisting of a team of specialists anchored by a geneticist or metabolic physician can help drive optimal long-term management.1


Progress and promise through three pillars of care

In the new era of MPS, the many aspects of disease management may be grouped into three pillars of care designed to optimise patient outcomes

Application of optimal MPS disease management, grouped into the following 3 pillars of care, can help to improve patient outcomes:

  • Treatment with ERT, if available10
  • Lifelong management
  • Best practices in procedural care

In parallel with a medical home, anesthesiologists play a significant role in shaping individualized management plans that address procedural care and are essential to ongoing monitoring and assessment of patients to sustain long-term improvement in clinical outcomes.8,9

Best practices in lifelong management can help to improve clinical outcomes and patients’ quality of life.13-15

MPS disorders: multisystemic, unpredictable, and life threatening

Variability in disease progression and presentation often delays diagnosis, making early intervention critical2

While each subtype of MPS disorder is clinically distinct, all feature the life-limiting, progressive, multisystemic disease manifestations common to MPS disease pathology.12,14,21,22 Management of patients with MPS requires an understanding of the specific clinical manifestations and management recommendations for each MPS subtype.2,11

Disease name:
Hurler, Hurler/Scheie, Scheie
Deficient enzyme:
Gene symbol:
Disease name:
Deficient enzyme:
Iduronate 2-sulfatase
Gene symbol:
III(A, B, C, and D)
Disease name:
Sanfilippo [A, B, C, D]
Deficient enzymes:
Heparan N-sulfatase,
α-N-acetylglucosaminidase, Acetyl CoA:
α-glucosaminide N–acetyltransferase,
Gene symbols:
Disease name:
Morquio A, Morquio B
Deficient enzymes:
N-acetylgalactosamine 6-sulfatase,
Gene symbols:
VI(A and B)
Disease name:
Deficient enzyme:
N-acetylgalactosamine 4-sulfatase
Gene symbol:
VII(A and B)
Disease name:
Deficient enzyme:
Gene symbol:
Disease name:
Deficient enzyme:
Gene symbol:

What’s new in MPS

Management of labour and delivery in a woman with Morquio syndrome.

November, 2015

Optimal bilateral labour analgesia was not achieved despite multiple adjustments, and systemic analgesia was needed for caesarean delivery.

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).

May, 2015

Delays to diagnosis occurred due to the lack of or distance to diagnostic facilities, alternative diagnoses, and misleading symptoms experienced. Several patients experienced manifestations that were subtler than would be expected and were subsequently overlooked. Cases also highlighted the unique challenges associated with diagnosing MPS VI from the perspective of different specialities and provide insights into how these patients initially present.

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs.

April, 2016

Our current understanding of other cardiac issues in adults with the MPSs, especially with the coronary circulation and myocardium, is meagre and more needs to be

known to effectively care for this emerging population of adults.

14th International Symposium on MPS and related diseases

July 14–17, 2016, Germany

Read More

Optimise patient outcomes through coordinated management.

Stay informed about the latest updates and information about MPS.

References:  1. Hendriksz CJ et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet Part A. 2014;9999A:1-15.   2. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004;144(suppl 5):S27-S34.  3. Agency for Healthcare Research and Quality. Defining the PCMH. Accessed December 15, 2015.  4. Casey PH et al. Effect of hospital-based comprehensive care clinic on health costs for Medicaid-insured medically complex children. Arch Pediatr Adolesc Med. 2011;165(5):392-398.   5. Mosquera RA et al. Effect of an enhanced medical home on serious illness and cost of care among high-risk children with chronic illness: a randomized clinical trial. JAMA. 2014;312(24):2640-2648.   6. Klitzner TS et al. Benefits of care coordination for children with complex disease: a pilot medical home project in a resident teaching clinic. J Pediatr 2010;156(6):1006-1010.   7. Gordon JB et al. A tertiary care-primary care partnership model for medically complex and fragile children and youth with special health care needs. Arch Pediatr Adolesc Med 2007;161(10):937-944.  8. Harmatz P 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.   9. Walker R et al. Anaesthesia and airway management in mucopolysaccharidosis. J Inherit Metab Dis 2013;36(2):211-219.   10. Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med 2011;72(2):91-95.  11. Muenzer J et al. International Consensus Panel on the Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 2009;123(1):19-29.   12. Muenzer J, Beck M, Eng CM, et al.Genet Med. 2011;13(2):95–101. doi:10.1097/GIM.0b013e3181fea459.  13. Kakkis ED et al. The mucopolysaccharidoses. In: Berg BO, ed. Principles of child neurology. New York, NY: McGraw-Hill; 1996:1141-1166.  14. Lehman TJA et al. Diagnosis of the mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v41-v48.  15. Lavery C et al. Mortality in patients with Morquio syndrome A. J Inherit Metab Dis Rep 2015;15:59-66.   16. Giugliani R et al. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) —10-year follow-up of patients who previously participated in an MPS VI Survey Study. Am J Med Genet A 2014;164A(8):1953-1964.   17. Spinello CM et al. Anesthetic management in mucopolysaccharidoses. ISRN Anesthesiol. 2013;2013:1-10.   18. Data on file. Biomarin Pharmaceuticals,Inc.  19. Drummond JC et al. Paraplegia after epidural-general anesthesia in a Morquio patient with moderate thoracic spinal stenosis. Can J Anesth. 2015;62(1):45-49.   20. Sharkia R et al. Sanfilippo type A: new clinical manifestations and neuro‐imaging findings in patients from the same family in Israel: a case report. J Med Case Rep 2014;8:78.   21. Clarke LA et al. Biomarkers for the mucopolysaccharidoses: discovery and clinical utility. Mol Genet Metab 012;106(4):396-402. 22. Morishita K et al. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology 2011;50(suppl 5):v19-v25.