Back to Top

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

Pulmonologists’ 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.4 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, care through a coordinated approach is associated with reduction in healthcare utilisation and improved health outcomes.5–8

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

Coordination within the medical home 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 plans3

  • Because respiratory symptoms often occur early in the natural history of MPS, pulmonologists with a high index of suspicion for MPS may be instrumental in referring a potential patient for diagnosis9
  • The pulmonologist plays an important role in evaluating and managing respiratory impacts of MPS, which can be a critical component in overall clinical outcomes10,11
  • Respiratory involvement in MPS disorders can be extensive and progressive, and it can contribute to morbidity and, in some cases, mortality10
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 available12
  • Lifelong management
  • Best practices in procedural care

In parallel with a medical home, pulmonologists play a significant role in shaping individualised management plans that address ERT, chronic care, and procedural care, ultimately helping to optimise patient outcomes.2, 3, 13

Best practices in lifelong management can help to improve clinical outcomes and patients’ quality of life.15-18

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.14,16,23,24 Management of patients with MPS requires an understanding of the specific clinical manifestations and management recommendations for each MPS subtype.2,13

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

Gene symbols:
VI(A and B)
Disease name:
Deficient enzyme:
N-acetylgalactosamine 4-sulphatase
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.

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. Hendriksz CJ et al. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab. 2013;110:54–64.   5. Casey PH et al. 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.   6. 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.   7. 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.   8. 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.  9. Chiang J et al. Tachypnea of infancy as the first sign of Sanfilippo syndrome. Pediatrics. 2014;134(3):e884–e888.   10. Muhlebach MS et al. Respiratory manifestations in mucopolysaccharidoses. Paediatr Respir Rev. 2011;12(2):133–138.   11. Berger KI et al. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201–210.   12. Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. Br J Hosp Med. 2011;72(2):91–95.  13. 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.   14. Muenzer J, Beck M, Eng CM, et al.Genet Med. 2011;13(2):95–101. doi:10.1097/GIM.0b013e3181fea459.  15. Kakkis ED et al. The mucopolysaccharidoses. In: Berg BO, ed. Principles of child neurology. New York, NY: McGraw-Hill; 1996:1141–1166.  16. Lehman TJA et al. Diagnosis of the mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v41–v48.  17. Lavery Cet al. Mortality in patients with Morquio syndrome A. J Inherit Metab Dis Rep. 2015;15:59–66.   18. 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.   19. Spinello CM et al. Anesthetic management in mucopolysaccharidoses. ISRN Anesthesiol. 2013;2013:1–10. d  20. Data on file. Biomarin Pharmaceutical, Inc.  21. 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.   22. 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.  23. Clarke LA et al. Biomarkers for the mucopolysaccharidoses: discovery and clinical utility. Mol Genet Metab. 2012;106(4):396–402.   24. Morishita K et al. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology. 2011;50(suppl 5):v19–v25.