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
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
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 by a medical home.1
Geneticists and/or metabolic specialists are typically at the center of the medical home and help to coordinate multidisciplinary care and an individualized management plan.2,3
Given that ENT manifestations are common in MPS, and often appear early in the disease course, the ENT specialist plays an essential role in the multidisciplinary medical team.4,5
Many MPS disorders have available management guidelines and specialty-specific consensus recommendations regarding lifelong management of MPS. Guidelines typically recommend the following3,7:
Because ENT symptoms often manifest at an early age, the otolaryngologist is in a prime position to initiate diagnosis and refer for confirmation with genetic testing.5 Early and ongoing assessments from a coordinated care team can improve patient outcomes and may help prevent irreversible damage.7
Due to glycosaminoglycan buildup in the ear, patients with MPS have an increased risk of otitis media with effusion and acute otitis media.5,8 Management considerations include the following:
Upper airway obstruction in patients with MPS can range from varying degrees of sleep apnea to life-threatening airway emergencies. Management strategies for airway obstruction include the following5:
It is important to note that while ENT manifestations and complications are almost universal across MPS types, specific signs and symptoms can differ across and within MPS disorders.5 Individualised management plans should be tailored to specific needs, depending on presenting symptoms and MPS type.
A summary of general and ENT features of MPS syndromes can be found below.
Adapted from Yueng, Arch Otolaryngol Head Neck Surg, 2009.
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 neurobehavioral and psychiatric evaluations are recommended.7,12,13
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:
Speciality-specific assessments, as well as regular physical examinations and overall health interventions, should follow recommended guidelines, which may vary among MPS subtypes.3
Improvements in the treatment of MPS disorders are contributing to long-term outcomes for patients, necessitating new approaches to lifelong 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:
The transition from paediatrics 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 centre with significant MPS experience, and they require careful coordination across specialties.3,15 Long-term issues include but are not limited to the following:
Long-term management of MPS disorders, including ongoing assessments and a site-specific transition strategy from paediatric to adult care, may lead to sustained improvement in quality of life and a better future for your patients.3,15–17
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
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
Preparing for surgical and anaesthetic risk in patients with MPS requires an experienced, multidisciplinary care team consisting of anaesthesiology, cardiology, pulmonology, and otolaryngology.3
Anaesthetic risk factors include the following, outlined in the figure below.
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
Polysomnography is a useful tool for evaluating patients with MPS prior to surgery.1