Coordinated care for your patients: 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
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 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 Your role can be essential to the implementation of best practices in the management of MPS disorders and improvement of patient outcomes.
To address the underlying cause and multisystemic complications of MPS, management guidelines for certain MPS sub-types call for a coordinated approach consisting of a team of specialists anchored by a geneticist or metabolic physician.
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 three pillars of care, can help to improve patient outcomes:
The new era of management for progressive, complex, genetic conditions, such as mucopolysaccharidosis (MPS) disorders, hinges on the efficient coordination of each patient’s healthcare team.1
Geneticists and/or metabolic specialists are typically at the centre and help to coordinate multidisciplinary care and an individualised management plan.3,4
In patients with MPS disorders, the benefits of coordinated care may improve many aspects of a patient’s, and a family’s, outlook over the long term.3,4
Many MPS disorders have available management guidelines and speciality-specific consensus recommendations regarding lifetime management of MPS. Guidelines typically recommend the following:3,4
Comprehensive baseline assessments (e.g. speciality-specific evaluations, functional performance, and disease burden) by appropriate specialists
Regular, defined monitoring intervals to assess multisystemic disease progression
Early and ongoing assessments from a coordinated-care team can improve patient outcomes and may help prevent irreversible damage.4
Ongoing multisystemic assessments in patients with Morquio A3
Adapted from Hendriksz, Am I Med Genet Part A, 2014. Abbreviations: 6MWT, 6-minute walk test; CT, computed tomography; ERT, enzyme replacement therapy; FVC, forced vital capacity; MRI, magnetic resonance imaging; MVV, maximum voluntary ventilation; QoL, quality of life.
Frequency of assessments and involvement of specific specialists vary across the different MPS types. For patients with MPS diseases associated with primary neurodegenerative and cognitive complications, such as MPS I, II, and III, additional and regular neurobehavioural and psychiatric evaluations are recommended.4-6
In addition to speciality-specific assessments that should be done to facilitate positive long-term outcomes for patients with MPS, important steps can be taken by the coordinating physician, typically the geneticist and/or metabolic specialist, related to general health. Their role in educating other healthcare professionals (e.g. dentists, physiotherapists, paediatricians, family doctors) and families about the disease and general management strategies is critical and should include the following:3
Discussing the risks and benefits of intervention and necessary precautions with treatments and evaluations3
Dental considerations
The wide range of craniofacial and dental abnormalities, which varies by MPS subtype may or may not predispose patients to an increased risk of dental disease7
Close monitoring of dental development (at least annually) and regular dental care to prevent caries and attrition of the teeth3
The wide range of craniofacial and dental abnormalities, which varies by MPS subtype may or may not predispose patients to an increased risk of dental disease.7 Close monitoring of dental development (at least annually) and regular dental care to prevent caries and attrition of the teeth3
Speciality-specific assessments, as well as regular physical examinations and overall health interventions, should follow recommended guidelines, which may vary among MPS subtypes.3
Continuity of care into adulthood optimizes long-term outcomes
Improvements in the treatment of MPS disorders are contributing to long-term outcomes for patients, necessitating new approaches to lifetime management.
As patients age, some may begin to manage their own healthcare, making physician-guided transition to the adult setting critical.3 Physicians should ensure the following:
Early and ongoing assessments from a coordinated-care team to evaluate disease progression across organ systems4
Maintenance and assessment of patients’ ability to perform activities of daily living4
Formal, site-specific transition strategies, including identification of adult specialists with long-term MPS management experience1
That patients are not lost to follow-up3
Encourage patients and their families to be involved in site-specific transition strategies, which can be tailored to optimize each individual’s long-term care plan.3
The transition from pediatric to adult care and long-term adult care are critical areas to address in care plans for adolescent and adult patients.3 Long-term care considerations are ideally best addressed in a center with significant MPS experience, and they require careful coordination across specialities.3,8 Long-term issues include but are not limited to:
Best practices in adult-care transition
Gynaecological considerations
Pregnancy and maternity-related issues
ERT use during pregnancy and lactation
Long-term port management
Long-term pain management
Long-term management of MPS disorders—including ongoing assessments and a site-specific transition strategy from pediatric to adult care—may lead to sustained improvement in quality of life and a better future for your patients.3,8-10
Procedural care requires coordinated surgical planning across specialities
Because clinical manifestations of mucopolysaccharidosis (MPS) disorders are multisystemic, a patient-specific, multidisciplinary approach is required to proactively recognise and manage complications. ENT manifestations and complications are almost universal across MPS types.1
Patients with MPS disorders typically have a number of surgical interventions over their lifetimes. A natural history study assessing a cohort of 325 patients with Morquio A (MPS IVA) found that over 70% of patients had at least one surgical procedure.2
Surgical burden in patients with Morquio A2,a
Adapted from Harmatz, Mol Genet Metab, 2013.
Data based on medical history reviews of 325 patients with Morquio A and a mean age of 14.5 years
Patients with MPS have a high perisurgical mortality rate due to multiple factors, including upper and lower airway obstruction, cervical spinal instability, respiratory impairment, cardiovascular morbidities, and frequent infections.2-4 For example, surgical complications resulted in an 11% mortality rate in patients with Morquio A (n=27).5
Creating a surgical plan is crucial and involves a multidisciplinary team of specialists who are, ideally, also experienced in treating patients with MPS.3
Specialties represented may include anaesthesiology, pulmonology, neurosurgery, cardiology, ENT and radiology.4,6,7
In MPS disorders with neurodegenerative and cognitive implications, additional specialities, such as psychiatry and neurology, may be involved.8
In addition to the management guidelines, specialists should consult orthopaedic and surgical guidelines.
Surgical risk assessment and perioperative monitoring are fundamental components of a tailored surgical plan, and they can reduce the risks of negative surgical outcomes and mortality in patients with MPS.3,9,10
Optimize patient outcomes through coordinated management.
Operative care considerations6,11
Preoperative considerations
Upper airway obstruction
Respiratory dysfunction
Spinal cord compression
Intubation/extubation planning
Intraoperative considerations
Risks/benefits of mask ventilation or awake fibre optic induction with spontaneous ventilation
Neurophysiological monitoring
Body positioning (head and neck should be carefully maintained in the neutral position such that clavicles are aligned with the external auditory meatus)
Postoperative considerations
Early extubation when possible
Close monitoring for airway and pulmonary oedema
Monitoring need for reintubation
Availability of emergency tracheostomy at any time
Extubation only after patient is fully awake and has full return of motor power
Skeletal and multisystemic complications increase the risk of perioperative morbidity and mortality – guidelines suggest combining surgeries to reduce risk of multiple anaesthetic episodes. Identify risks to lower the likelihood of surgical complications in MPS disorders.9,12
When available, enzyme replacement therapy (ERT) is the first step to optimal outcomes.
Supportive clinical evidence from sibling studies suggests that early intervention provides multiple opportunities to improve patient outcomes through disease-specific management and early initiation of ERT, if available.1-6
ERT, whether initiated early or later in life, has been shown to improve key clinical parameters, such as endurance and pulmonary measures, which are critical to quality of life, maintenance of ambulation and activities of daily living.7,8
ERT is currently available in many countries for the treatment of patients with mucopolysaccharidosis (MPS) I, II, IVA, VI and VII.8,9
When available, home-based infusion of ERT is an important clinical consideration.10-12
Management guidelines and expert reviews on MPS disorders call for initiation of ERT, when available, as soon as diagnosis is confirmed.6,8,13
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.
Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004;144(suppl 5):S27–S34.
Agency for Healthcare Research and Quality. Defining the PCMH. https://pcmh.ahrq.gov/page/defining-pcmh. Accessed December 15, 2015.
Hendriksz CJ et al. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab 2013;110:54–64.
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.
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.
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.
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.
Hendriksz C. Improved diagnostic procedures in attenuated mucopolysaccharidosis. BrJ Hosp Med 2011;72(2):91-95.
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.
Muenzer J, Beck M, Eng CM, et al.Genet Med. 2011;13(2):95–101. doi:10.1097/GIM.0b013e3181fea459.
Kakkis ED et al. The mucopolysaccharidoses. In: Berg BO, ed Principles of child neurology. New York, NY: McGraw-Hill; 1996:1141–1166.
This information is intended for healthcare professionals in Europe, Canada, Australia and New Zealand only.
