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Table 4 Challenges and resolutions associated with critical clinical situations

From: Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

• Breathlessness and oedema progressed as ERT stopped at 3.5 weeks of the pregnancy• Regular monthly obstetrics appointments
• Regular cardiology, ophthalmology and anaesthetic appointments
• Monthly fetal ultrasound scans
• Spinal support required during pregnancy• Body corset worn by patient
• Neonatal child had squints, jaundice and respiratory difficulties• Neonatal intensive care for 8 weeks
• Supportive ventilation
• Help required caring for the baby for the first year because of joint restrictions in the hands• Baby fed with expressed milk and formula
• Support provided by patient’s family
• Increased frequency of health visitor appointments
• Appointments with occupational therapist
• Chest infections more frequent and forced vital capacity reduced, as ERT cessation continued during breastfeeding• Antibiotics prescribed once bacterial infection confirmed
• Contraindications confirmed with pharmacist
Maintaining ERT administration after thrombus development in a venous access device
• Worsening breathlessness due to obstructive sleep apnoea• Continuous positive airway pressure at night to resolve obstructive sleep apnoea prior to surgery to remove port-a-cath
• Assessed by neurosurgeon, ENT consultant and anaesthetist prior to surgery
• After port-a-cath removal, patient received ERT by peripheral access, leading to reduced quality of life
• Port-a-caths are usually reserved for paediatric patients
• Hickman line inserted
• Hickman line insertion resulted in patient distress• Consider general anaesthesia for this procedure in patients with MPS
• Risk of infection with Hickman line
• An adult Hickman line was required for an appropriate diameter, but as the patient is short, the line is relatively long, increasing infection risk
• Sterile dressings were changed frequently, and the line flushed prior to ERT
• Patient and family educated on managing Hickman line and infusions
• Patient travelling shortly after procedure• Sutures left in until patient was able to return
Complex continuous symptom management
• Wide range of symptoms experienced, and surgeries and treatments required• Adult care specialist has extensive experience of MPS and makes personal contact with the MDT to explain the requirements for each surgical procedure
• Continued monitoring of symptoms that are life-threatening or may affect quality of life
• Airway management during extubationa
• Caused by swelling
• Progressive dyspnoea developed after tracheostomy tube removal
• Tracheal stenosis developed
• Emergency tracheostomy
• Oxygen support required on some occasions
• Assess need for all future surgeries
• Surgical managementb• Procedures can be carried out in a paediatric hospital that has appropriately sized equipment available and expertise in MPS
• Organisation of ERT infusionsb• Carried out by adult care clinicians in a dialysis ward
  1. aCase 7. bCase 8