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
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:
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
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
Application of optimal MPS disease management, grouped into the following 3 pillars of care, can help to improve patient outcomes:
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
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
November, 2015
Optimal bilateral labour analgesia was not achieved despite multiple adjustments, and systemic analgesia was needed for caesarean delivery.
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.
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.
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. https://pcmh.ahrq.gov/page/defining-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.
