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Table 2 Critical clinical case details

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

CasePatient characteristicsCritical clinical situationKey team membersHospital setting, preparations and managementRecovery and outcome
1 – cardiac valve replacementFemale patient with MPS VI, aged 34 yearsAortic valve replacementAdult metabolic consultant, lysosomal storage disorder nurse, cardiologist, congenital heart disease specialist, cardiothoracic surgeon, paediatric and adult anaesthetist, ENT specialist, and respiratory consultant• Specialist cardiothoracic theatre. Clinicians had expertise in congenital heart disease and previous experience in patients with MPS
• The team was prepared for risk of unsuccessful surgery, problems with intubation, bleeding, cardiac arrhythmias and post-surgical tracheostomy
• After surgery, the patient was treated with warfarin and spontaneous ventilation. A nasogastric feeding tube was used because of a tracheostomy
• Considered to be ‘good’ in this patient, as her tracheostomy was removed after 8 days and she was able to walk with support 14 days post-surgical
• Follow-up by metabolic and cardiac specialists every 6 months
2 – spinal stenosisFemale patient with MPS VI, aged 21 yearsSurgery to correct spinal stenosis and occipital spondyloses, involving installation of a halo device, laminectomy of the C1 vertebra, and resection of the foramen magnumNeurologist with experience of MPS, neurosurgeon, geneticist, cardiologist and anaesthetistHospital specialising in orthopaedics• Without complications over a 2-week period in hospital with physiotherapy support
• Follow-up by MDT
3 – spinal stenosisFemale patient with MPS IVA, aged 21 yearsSurgery to correct spinal stenosis in the cervical regionMetabolic specialist, orthopaedic surgeons, radiologist, neurosurgeons, anaesthetists and intensive care doctorsHospital specialising in orthopaedics• Without complications but the patient required physical rehabilitation during recovery because of muscular atrophy
• Follow-up by a neurosurgery unit, with rehabilitation arranged through general practice
4 – corneal transplantMale patient with MPS VI, aged 22 yearsCorneal transplant – deep anterior lamellar keratoplastyAdult metabolic consultant and nurses, ophthalmologist, adult specialist in corneal transplant, paediatric anaesthetist with expertise in MPS• The team was prepared for pain, discomfort, infection and post-surgical haemorrhage
• Surgery was performed under local anaesthetic
• Although a local anaesthetic was planned, a full cardiac and respiratory assessment was conducted in case general anaesthesia was required
• As expected, and the patient could see shortly after the procedure
• Discharge within 24 h, and, along with his family, was advised on how to prevent infection and injury
• Follow-up in ophthalmology and metabolic clinics every 6 months
5 - pregnancyFemale patient with MPS I, aged 24 yearsPregnancy, birth and infant careObstetrician with expertise in inherited metabolic disorders, metabolic consultant, lysosomal storage disorder nurse, gynaecologist, midwife, general practitioner, cardiologist, genetic counsellor, anaesthetist and ophthalmologist• Caesarean section planned for 38 weeks
• The team was prepared to support the patient in caring for the infant as skeletal deformities and respiratory problems may have a negative impact on carrying the child and breastfeeding
• Baby born by uneventful spontaneous labour with epidural anaesthesia at 29 + 5 weeks
• The patient developed mitral valve disease and underwent valve replacement and was treated with warfarin after surgery
• She became pregnant again at this stage but, because of the teratogenic effect of warfarin, had a miscarriage
6 – thrombus development in a venous access deviceMale patient with MPS II (Hunter syndrome), aged 26 yearsThrombus in a port-a-cath and change of venous access device neededMetabolic consultant, lysosomal storage disorder nurse, infusion nurse, intravenous team, interventional radiologist, neurosurgeon, ENT consultant and anaesthetist• Thrombus resolved using warfarin
• The team was prepared for infections, further thrombi, blocked lines, and supporting the patient and family to manage the inconvenience of flushing access devices
• A Hickman line was inserted as a permanent solution for venous access
• He was followed up in the adult care ssetting every 6 months
7 – complex continuous symptom managementMale patient with MPS II (Hunter syndrome), aged 33 years• Respiratory, cardiac, neurological, gastrointestinal, skeletal, optic and dental symptoms
• Multiple surgical procedures including adenoidectomy, tonsillectomy, T-tube insertion, inguinal and umbilical hernia repair, mastoidectomy, wrist surgery, dental surgery, hip replacement, tracheostomy, appendectomy, carpal tunnel decompression, two port-a-cath insertions, and a cardiac valve replacement
• Recurrent respiratory infections and otitis, hepatosplenomegaly, concentration difficulties, endocarditis, and craniocervical stenosis
See Fig. 1Managed by a metabolic adult care physician with expertise in MPS, based in a paediatric unit• Patient now requires a hip replacement, but because of previous complications with airway management during surgery, this particular issue is managed through pain relief and use of a wheelchair
• The patient requires glasses and hearing aids and has been prescribed medications for cardiac dysfunction
8 – complex continuous symptom managementFemale patient with MPS I, aged 38 years• Motor delay, kyphosis, hip problems and pain, recurrent respiratory infections, otitis, diarrhoea, short stature, joint contractures, back pain, aortic valve insufficiency, craniocervical stenosis, severe visual loss, and loss of sensitivity in the first three fingers of both hands
• Cardiac valve replacement and spinal cord decompression
See Fig. 1• Managed by a metabolic adult care physician with expertise in MPS, based in a paediatric unit
• Very narrow airways, so anaesthetic equipment included paediatric intubation tubes that would not have been available in an adult hospital
Symptoms managed through ERT administered in an adult dialysis ward