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Surgery and Anesthesia in MPS II
Christina Lampe, MDCenter for Rare DiseasesDr Horst Schmidt Clinics
Wiesbaden, Germany
First Symptoms
Reprinted from Wraith JE, et al. Genet Med. 2008;10(7):508-516.
Case Reportto demonstrate typical surgicalprocedures and complications In MPS II
Sebastian *1982
Eine der Lieblingsbeschäftigungen von Sebastian ist das Telefonieren mit Freunden. Freunde bedeuten ihm eine
Menge. Außerdem surft Sebastian gerne im Internet.
Als Sebastian 6 Jahre alt war, wurde bei ihm Morbus Hunter festgestellt. Im Laufe der Zeit verursachte Morbus
Hunter bei ihm immer mehr körperliche Beschwerden. Sebastian leidet auch unter starken Schmerzen, wie z.B.
Hüftschmerzen. Er hatte zahlreiche Bandscheibenvorfälle und musste bereits ein künstliches Hüftgelenk erhalten.
Heute sitzt er im Rollstuhl.
Sebastian, 30 Jahre , Bochum, Nordrhein-Westfalen , Deutschland
Ein Projekt der Stiftung Positive Exposure™
Case Report- Sebastian *1982
Family 1st child of healthy German parents 1 healthy brother *1983, 1 healthy sister *1995
Pregnancy/Birth Normal, spontaneous, normal weight and height
-3 years of age Normal mental and motor development Kindergarden
At the age of 3 years Adenoidectomy, tonsillectomy, t-tubes Rec. infections of the upper airways
Diagnosis
4 years: hepatosplenomegaly6 years: diagnosis [Hunter] was found
Case Report- Sebastian *1982
At the age of 9-17 years
Migraine
Hernia inguinalis repair
Glasses, glaucoma
Pain in hips and knees after 20 min walking
Wheelchair (recurrent use)
Torsion of the testis
Mastoidectomy
Problems in school (concentration)
Left school at the age of 18 years
At the age of 18- 22 years
T-tubes
Wheelchair (full time)
Femoral head necrosis left
Wrist surgery (pain)
Hearing aids
MI I and MI II (enalapril and atenolol)
Osteotomy and extraction of 7 teeth
Hernia umbilicalis repair (incarceration)
CTS both sides
Herniation L2/3 and L5/S1
Coxarthrosis left
Case Report- Sebastian *1982
Start of ERT
At the age of 24 -32 years
Hip replacement left - complications while extubation:
Tracheostomy (removal after 3 weeks)
Tracheal stenosis
Appendectomy
CTS decompression both sides
CPAP mask at night
Portacath
Heart valve replacement
CTS release both sides
Inguinal hernia
Inguinal hernia repair
Heart valve replacement
Change of the portacath
Case Report- Sebastian *1982
Eine der Lieblingsbeschäftigungen von Sebastian ist das Telefonieren mit Freunden. Freunde bedeuten ihm eine
Menge. Außerdem surft Sebastian gerne im Internet.
Als Sebastian 6 Jahre alt war, wurde bei ihm Morbus Hunter festgestellt. Im Laufe der Zeit verursachte Morbus
Hunter bei ihm immer mehr körperliche Beschwerden. Sebastian leidet auch unter starken Schmerzen, wie z.B.
Hüftschmerzen. Er hatte zahlreiche Bandscheibenvorfälle und musste bereits ein künstliches Hüftgelenk erhalten.
Heute sitzt er im Rollstuhl.
Sebastian, 30 Jahre , Bochum, Nordrhein-Westfalen , Deutschland
Ein Projekt der Stiftung Positive Exposure™
Summary Surgical Procedures
Adenoidectomy, tonsillectomy, T-tubes
Hernia repair (umbilical and inguinal)
Carpal tunnel release
Hip replacement
Dental surgery
Tracheostomy
Appendectomy
Mastoidectomy
Portacath
Appendectomy
Torsion of the testis
Heart valve replacement
Typical surgicalprocedures in MPS II?
Adenoidectomy, tonsillectomy, T-tubes 50% (median age 3 years)
Hernia repair (umbilical and inguinal) 50% (median age 3 years)
Carpal tunnel release 18% (median age 8.7 years)
Dental surgery 14% (median age 7.2 years)
Tracheostomy
Hip replacement
Appendectomy
Mastoidectomy
Portacath
Appendectomy
Torsion of the testis
Heart valve replacement
Typical Surgical Procedures in MPS (II)
51%50%50%
36%29%
18%14%7% 4% 3% 2% 2%
0 10 20 30 40 50 60
ear t
ubes
aden
oide
ctom
y
hern
ia in
guinalis
tons
illec
tom
y
othe
r
carp
al tu
nnel
dent
al sur
gery
intra
cran
ial s
hunt
trach
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my
trigg
er fing
er re
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e
spine
deco
mpr
ession
feed
ing
tube
n= 527 patients HOS before July 23, 2009
Age at First Surgical Procedure In MPS (II)
N. Mendelson et al., Importance of Surgical History in diagnosing MPS II: Data from the HOS
Outcome Survey, Genetics in Medicine 2010
MPS II... Surgical History as a Diagnostic Clue
• median of 3.0 operations per patient, median of 2.0 operations while undiagnosed (57% of patients)
• for the first time at a median age of 2.6 years
• repeated surgeries, especially for ENT, hernia and carpal tunnel syndrome, were very common.
Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22.
Hernia repair + ENT intervention
Carpal tunnel syndrome in childhood
Difficult intubation or inability to extubate
+
ANESTHESIA IN MPSA CHALLENGE AND A BALANCE OF RISK !!
Anesthesia Complications Are Common in MPS
For 428 of 441 patients who were reported in HOS to have had surgical intervention:
• Difficulties with intubation were reported in 22.0%
• Unable to extubate 3.7%
Problems with intubation/extubation were reported to occur before diagnosis:
• Intubation: 18.6%
• Extubation: 7.7%
Mendelsohn NJ, et al. Genet Med. 2010;12(12):816-22.
Example MPS II:
Most frequent airway complaints in MPS
Berger et al JIMD 2013
Healthy versus affected epithelial tissue of thebronchi
...and additionally: MPS !!!
Specific Anesthesiological Risk Factors in MPS
Difficult airwaysdwarfism, short neck
large head, hypertelorismthickended and less flexible epiglottis, hyperplasia soft tissue, macroglossia
cervical spine flexibility,atlanto-axial instability
Limited cardio-respiratory resourceshemodynamically significant heart
changes, cardiomyopathyrecurrent infections of the airways
restrictive and obstructive lung disease
Difficult positioningdeformity of the chest cage
enlagred abdomencontractures
Limited cooperationMental retardation
Postoperative:intensive care
WeaningSwelling of the airways
Perioperative mortality 20%
Difficult Airway Management
Prepare an individual plan for each patient !
Preoperative Evaluation and Planning
• Cardiopulmonary status 1. Echo and ECG
cardiological complications are the
main cause of intraoperative death! 2. Pulmonary testing
• Conditions to intubate 3. Laryngoscopy
ventilation with a mask possible?
Size of the equipment?
Atlanto-axial instability? 4. MRI craniocervical junction
• Conditions to ventilate 5. CT scan airways
tracheal stenosis or malacia
Intraoperative positioning
• Conditions to extubate 6. Organizing management and team!
Early extubation inside the operating theater, tracheotomy stand by, intensive care
Emergency management: postoperative complications, extubation
Intubation - Balance of Risk!• Premedication
anxiolysis, reduction of hypersalivation, oxygen
Cave: obstuctive sleep apnea
Cave: tachycardia by limited cardiological reserve
• Management of difficult airways
correct size of the equipment(standard sizes and medication dosages are not fitting!)
• Clear responsibilities
Calculation of medication dosing in advance
Emergency medication prepared
intubation in tracheostomy stand by ENT
Short-acting anethetics (total intraveneous anesthesia)
prophylaxis of edema of the airways
early extubation in tacheotomy stand by ENT
First choice: awake fiberoptic intubation
Challenge: Mental Retarded Patient
Limited cooperation concerning swallowing, breathing and tolerance of nasal intubation
Recommendations• quiet atmosphere
• oral fibertoptic intubation (cave: muscle relaxation without intubation)
• Careful titration of the medication: a few can be too much!
• Repeat local anesthesie (throat/nose) if necessary
• High risk of mask anesthesia!
• Only short-acting drugs
• Always tracheostomy standby
Dont´t hurry – time is not toxic
Florianliebt Musik und die Simpsons
Ein Projekt der Stiftung Positive Exposure™
Extubation- Balance of Risk again!
Same conditions like intubation
Extubation in tracheostomy standby
• Prophylactic therapy against edema of the mucosa: Fortecortin
• Inspection of the epiglottis after intubation und prior extubation
• Contact to patient possible? - having definitive protective reflexes(coughing, swallowing)
• Sufficient spontaneous breathing
• Step by step extubation(level of vocal folds – hypopharynx – mouth/nose)
Close communication betweenAnesthesiologist & Surgeon
Anesthesia in MPS
Teamwork is needed:
Anesthesist Cardiologist pulmologist otolaryngologist surgeon intensive Care metabolic specialist
prepare an individual plan for eachpatient
Anaesthesia in MPS
• Significant risk due to airway disease and anatomic changes (macroglossia,
narrowed airways, short neck, immobility of the jaw)
• Difficult intubation is common (tracheostomy standby)
• Postprocedure edema of the larynx can make extubation difficult
• Avoid bleeding- mucosa in MPS patients is very vulnerable
• Postoperative observation at an intensive care unit
Mariuszliebt Tomatensuppe
Ein Projekt der Stiftung Positive Exposure™
BE AWARE….
Eine der Lieblingsbeschäftigungen von Sebastian ist das Telefonieren mit Freunden. Freunde bedeuten ihm eine
Menge. Außerdem surft Sebastian gerne im Internet.
Als Sebastian 6 Jahre alt war, wurde bei ihm Morbus Hunter festgestellt. Im Laufe der Zeit verursachte Morbus
Hunter bei ihm immer mehr körperliche Beschwerden. Sebastian leidet auch unter starken Schmerzen, wie z.B.
Hüftschmerzen. Er hatte zahlreiche Bandscheibenvorfälle und musste bereits ein künstliches Hüftgelenk erhalten.
Heute sitzt er im Rollstuhl.
Sebastian, 30 Jahre , Bochum, Nordrhein-Westfalen , Deutschland
Ein Projekt der Stiftung Positive Exposure™
• high anesthesia risk ! Also adult and mild affected MPS patients
• discuss necessity of each surgery andcombine different surgeries
• multidiscipliary team is needed foreach single surgery- prepare the colleagues!
• Prepare the patient!
Thank You for Your Attention !!
Many thanks to Dr. Matthias Schäfer, who providedthe anesthesia knowledge in MPS !!!!