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Table 4 Challenges and resolutions associated with critical clinical situations

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

Challenges Resolutions
Pregnancy
• 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