This page gives concise emergency information for families, emergency teams and anaesthetists, and should always be used together with local policies and up to date difficult airway guidelines, not as a stand-alone protocol.
Important Disclaimer
This information is for healthcare professionals and families. It does not replace specialist advice, national guidelines or local protocols. In an emergency, follow your hospital's difficult airway and resuscitation guidance and involve senior anaesthetists early.
At a glance: key emergency messages
If this patient needs urgent anaesthesia or airway management:
Where feasible, contact the patient’s metabolic or transplant centre and previous anaesthetic team for advice.
Information for families to share with emergency teams
In any emergency where your child or relative with Hurler syndrome:
- Needs an operation
- Needs to be put to sleep or sedated
- Needs an emergency breathing tube
tell the paramedics and hospital team immediately that they have Hurler syndrome / MPS I-H and that this condition makes anaesthesia and airway management high risk.
If possible, bring:
- A copy of the latest clinic letter from the metabolic or transplant team
- Any previous anaesthetic summary or letter that describes airway difficulties
- A list of current medications and allergies
- Details of the specialist centre that usually looks after the person
You can ask the emergency team to:
- Contact your usual metabolic or transplant centre for advice
- Ensure a senior anaesthetist is involved before any procedure that needs sedation or general anaesthesia
- Consider whether transfer to a specialist centre is safe and appropriate, if time allows
Key anatomical and medical risk factors
In Hurler syndrome, glycosaminoglycan storage affects the airway, bones, heart, lungs and brain. This leads to a cluster of features that make anaesthesia challenging:
Airway
- Enlarged tongue (macroglossia) and thickened soft tissues
- Narrow nasal passages and pharynx
- Thickened laryngeal structures and subglottic narrowing
- Limited mouth opening and temporomandibular joint stiffness
Cervical spine and skeleton
- Cervical spine instability and odontoid hypoplasia
- Short, stiff neck with kyphosis
- Restrictive chest wall and reduced lung volumes
Heart and lungs
- Valvular disease, cardiomyopathy and possible coronary involvement
- Restrictive or obstructive lung disease
- Severe obstructive sleep apnoea and chronic airway obstruction
Other factors
- Potential neurocognitive impairment and communication difficulties
- Multiple previous surgeries and possible scarred or altered airways
Further detail from the source pages
Further detail6 sections
Assessment and preparation if time allows
In a true life-threatening emergency there may be little time, but where possible:
Clarify the diagnosis and treatments
- Confirm MPS I-H (Hurler)
- Ask about HSCT, ERT and previous anaesthetic experiences or complications
Focused airway and spine assessment
- Mouth opening, neck movement, jaw mobility
- History of snoring, sleep apnoea, previous difficult intubations
- Any known cervical spine instability, previous imaging or spine surgery
Cardiorespiratory status
- Look for signs of heart failure, valve disease, arrhythmia
- Assess baseline oxygen saturation and work of breathing
- Review recent echocardiograms or lung function tests if available
Plan location and resources
- Aim for a theatre or resuscitation area with full difficult airway kit, video laryngoscopes, supraglottic devices and front-of-neck access equipment
- Ensure experienced anaesthetists and ENT or surgical backup are available, in keeping with MPS and difficult airway guidelines
Airway planning in Hurler syndrome
From large reviews and the OrphanAnesthesia guideline for Hurler syndrome:
- Expect a difficult airway as the default, even if the last anaesthetic was uneventful.
- Involve a senior anaesthetist with experience in difficult paediatric or complex airways.
- Maintain cervical spine neutrality as far as possible; avoid forceful manipulation.
- Preoxygenate thoroughly and plan for failure of both mask ventilation and intubation.
- Have a clearly defined plan A, B and C, including front-of-neck rescue in line with ASA and DAS difficult airway guidelines.
- Use advanced techniques such as video laryngoscopy or fibreoptic intubation according to local experience and resources.
- Avoid deep sedation without a secure airway in patients with severe airway obstruction or sleep apnoea.
Typical Airway Plan Structure
Plan A: Primary Technique
Preoxygenate thoroughly
Plan B: Backup Techniques
Video laryngoscopy, supraglottic devices
Plan C: Rescue Access
Front-of-neck access (cricothyrotomy)
Full Monitoring
- Use ASA or national standards, with special attention to ECG, blood pressure, capnography and oxygen saturation.
Fluid and Drug Management
- Even after successful HSCT, most patients have progressive dysostosis multiplex, including kyphosis, scoliosis, hip dysplasia and genu valgum.
Extubation Planning
- Consider the risk of difficult extubation, airway oedema and residual obstruction; extubation should be planned and, in high-risk cases, may be delayed until in ICU.
Further detail — part 26 sections
Postoperative Care
- Many patients benefit from postoperative HDU or ICU observation, even after short procedures, especially if they have severe airway, cardiac or respiratory disease.
Pain Control
- Effective postoperative pain control is essential, but sedating drugs must be used carefully because of underlying respiratory compromise.
Information your specialist team can provide
Families should be encouraged to ask their metabolic or transplant centre for a personalised emergency anaesthetic letter.
Essential Letter Elements
- Confirmed diagnosis and phenotype (for example, MPS I-H, Hurler syndrome)
- Summary of HSCT/ERT history and major surgeries
- Recent cardiac and respiratory status (for example, latest echocardiogram findings, sleep study results)
- Previous anaesthetic experiences, including any documented difficult airway or ICU admissions
- Known cervical spine imaging results and any spinal surgery
- Current medications and allergies
- The name and contact details of the usual metabolic or transplant centre and lead consultant
Emergency Card / Phone Lock Screen
🚨 ALERT 🚨
"High-risk airway - Hurler syndrome (MPS I-H)"
"Please involve senior anaesthetist and contact [centre] before anaesthesia if time allows"
Wallet-sized card or mobile phone lock screen example
For families: questions you can ask
Preparing for future procedures
Q1 Has my child ever had a difficult airway or problems with anaesthesia?
Q2 Do we have an up to date anaesthetic summary letter and should we carry it at all times?
Q3 How likely is it that my child will need ICU after major surgery?
Q4 Are there centres or anaesthetists who are particularly experienced with Hurler syndrome?
Q5 What can we do now (for example, treating sleep apnoea, optimising heart and lung health) to reduce anaesthetic risk?
Further detail — part 36 sections
For healthcare professionals: key principles to remember
- Treat all patients with Hurler syndrome as high anaesthetic risk, even after HSCT or ERT.
- Anticipate a difficult airway with potential cervical spine instability and follow national difficult airway guidance.
- Involve a senior anaesthetist and consider early ENT or surgical backup.
- Remember that cardiomyopathy, valve disease and restrictive lung disease are common and may be silent; monitor and manage accordingly.
- Where time and geography allow, discuss high-risk cases with a specialist metabolic or transplant centre and consider transfer.
Current treatments overview
How HSCT, ERT and supportive care fit together
Supportive care
Day to day management and symptom control
Multidisciplinary care
How the specialist team works together
Long term outcomes
What we know about life after HSCT and ERT
Living with Hurler syndrome
Practical information for families, schools and adults