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Mucopolysaccharidoses
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Hereditary storage diseases caused by a deficiency in lysosomal enzymes that metabolize the
glucosoaminoglycans. This results in a progressive tissular accumulation of non-degraded products in some organs in particular: bone, brain, liver, skin and mucous membranes, cartilage, airway, heart valves and vessels.
The table shows the current classification.
|
Type |
other name «Syndrome» |
Defective enzyme |
difficult
|
bone marrow or stem cells transplant |
recombinant enzymatic treatment |
|
MPS I H |
Hurler |
α-L-iduronidase |
+ |
+ |
+ |
|
MPS I S |
Scheie |
α-L-iduronidase |
+ |
|
+ |
|
MPS I H/S |
Hurler-Scheie |
α-L-iduronidase |
+ |
|
+ |
|
MPS II |
Hunter |
iduronate-2-sulfatase |
++ |
+ |
+ |
|
Mucolipidosis II |
I-cell disease |
Uridine diphosphate-N-acetylglucosamine |
+ |
|
|
|
MPS III A |
Sanfilippo type A |
heparan-N-sulfatase |
|
+ |
|
|
MPS III B |
Sanfilippo type B |
α-N-acetylglucosaminase |
|
|
|
|
MPS III C |
Sanfilippo type C |
Heparan-α-glucosaminide N-acetyltransférase |
|
|
|
|
MPS III D |
Sanfilippo type D |
N-acetylglucosamine-6-sulfatase |
|
|
|
|
MPS IV A |
Morquio
|
N-acetylgalactosamine-6-sulfatase |
+ |
+ |
|
|
MPS IV B |
Morquio
|
β-galactosidase |
+ |
|
|
|
MPS VI |
Maroteaux-Maly |
N-acetylgalactosamine-4-sulfatase (arylsulfatase) |
+ |
+ |
+ |
|
MPS VII |
Sly |
β-glucuronidase |
+ |
+ |
+ |
|
MPS IX |
Natowicz |
hyaluronidase |
|
|
|
Clinical involvement:
|
Type |
Coarse
|
Orthopedic
|
Joint
|
Hepato-
|
neuro-
|
Corneal
|
heart |
ENT |
|
I-H / I-S |
++/+ |
+++ |
++ |
++ |
++/0 |
++ |
++ |
+++ |
|
II |
++ |
++ |
++ |
++ |
++/0 |
0 |
++ |
+++ |
|
III |
+ |
+ |
(+) |
(+) |
+++ |
0 |
+ |
++ |
|
IV |
|
+++ |
hyperlaxity |
(+) |
0 |
+++ |
+ |
+ |
|
VI |
++ |
+++ |
++ |
++ |
0 |
++ |
++ |
+++ |
|
VII |
+ |
+ |
+ |
+ |
+ |
++ |
+ |
++ |
|
IX |
+ |
|
|
|
|
|
|
|
+++ : major sign ++ : often present + : sometimes present (+) : rare 0 : absent
Anesthetic implications:
see each syndrome.
In short:
- difficult intubation (primarily MPS I and IV) which worsen with age (except Sanfilippo) following the infiltration of airway by glucosoaminoglycans deposits: macroglossia, hypertrophy of adenoids. Laryngeal and tracheal walls are also infiltrated: narrow, difficult to visualize glottis, tortuous trachea (MPS IV, VI, VII), tracheo- and bronchomalacia; often limited mouth opening and infiltration of the temporo-mandibular joint
- instability of the cervical spine due to hypoplasia of the odontoid process: MPS IV and VI
- narrow vertebral canal at the cervical and/or lumbar level: MPS I, II, IV and VI
- large epiglottis, which may make it impossible to use a laryngeal mask in adolescents (MPS IV and VI)
- obstructive sleep apnea (> 80%)
- heart rhythm disorders: risk of complete AVB: MPS II, III, IV
- pathology of the coronary artery,which is sometimes silent
- valvular heart disease (especially mitral and aortic): MPS I, II, and VI
- sometimes cardiac hypertrophic type
- restrictive pulmonary syndrome with risk of pulmonary hypertension
- progressive deafness, mental retardation
An airway assessment score has been developed for adolescent and adult (even treated) patients with mucopolysaccharidosis: the Salford score (table). It comprises 15 parameters graded from 0 to 3. Parameters 1-6 are based on clinical examination, 7-10 on nasal endoscopy, 11-13 on chest CT and 14-15 on respiratory function tests (if feasible).
A total score of 0-15 indicates minor, 15-30 moderate and 30-45 severe involvement of the airways. A score of ≥ 25 means that difficult airway management should be considered.
|
Nr |
parameter |
measures |
score |
|
1 |
mouth opening |
> 5 cm 4-5 3-4 < 3 |
0 1 2 3 |
|
2 |
teeth protrusion (profile) |
none minor moderate severe |
0 1 2 3 |
|
3 |
mobility /stability
|
non limited 60-90° flexion 30-60° flexion < 30° or instable |
0
|
|
4 |
tongue bulkiness |
normal light (< 1/3 of the floor) moderate (1/3 to ½ of the oral cavity) severe (> 1/2 of the oral cavity) |
0 1 2 3 |
|
5 |
Mallampati score |
1 2 3
|
0
|
|
6 |
Thyromental distance |
> 6 cm 5-6 4-5 < 4 |
0 1
|
|
7 |
larynx height - epiglottis/ soft palate |
> 4 cm 3-4 2-3 < 2 |
0
|
|
8 |
epiglottic bulkiness |
normal (filling < 1/3 of the oropharynx) mild (1/3 to ½ of the oropharynx) moderate (1/2 of the oropharynx) severe (filling the entire oropharynx) |
0
|
|
9 |
supra-glottis bulkiness |
normal (filling < 1/3 of the laryngopharynx) mild (1/3 to ½ ) moderate (1/2 ) severe (filling the entire laryngopharynx) |
0 1
|
|
10 |
glottis bulkiness |
normal (filling < 1/3 of the glottis) mild (1/3 to ½ ) moderate (1/2 ) severe (filling the entire glottis) |
0
|
|
11 |
sub-glottis or cricoid diameter |
> 7 mm 6-7 5-6 > 5 |
0
2 3 |
|
12 |
tracheomalacia
|
no stenosis decrease of 50-75 % decrease of 75-99 % complete obstruction |
0
|
|
13 |
Tracheal tortuosity |
none present |
0 3 |
|
14 |
Expiratory volume max 1 sec |
> 80 % 60-79 40-59 < 40 |
0 1 2 3 |
|
15 |
Vital capacity |
> 80 % 60-79 40-59 < 40 |
0 1 2 3 |
Bone marrow transplantion performed early (before 2 years of age) causes regression of the signs of airway obstruction. Enzyme replacement therapy causes a partial regression of some sequelae. It is recommended to start the enzymatic treatment as soon as the diagnosis is made and to realize a stem cell transplantation before two years of age: however, this protocol has not decreased the risk of perianesthesia respiratory complications in children who received the treatment; similarly, myocardial impairment is corrected but not the valvular involvement.
DIFFICULT INTUBATION: a laryngeal mask, a videolaryngoscope and a fiberscope should be ready for use. Use an endotracheal tube with a diameter smaller than expected for age: this point is even more important when the patient is older ! The presence of an ENT surgeon is often useful: even a tracheostomy is a long and difficult to perform procedure: short neck, deep and infiltrated trachea ...
Given the risk of neurological complications even after surgery that does not involve the spine, it is useful to rely on the intraoperative monitoring of the evoked sensory and the motor potentials:
- in case of kyphosis > 60° and an estimated surgical duration of > 60 min
- in case of kyphosis < 60° and an estimated surgical duration of > 90 min
The basic values must be established with the patient supine and then in the position needed for surgery. Any change in amplitude > 50 % and/or increase in latency > 10 % of the evoked sensory potential, or any change in the polyphasic aspect of the evoked motor potentials must lead to a therapeutic reaction: check the BP, the depth of anesthesia, the hemoglobin level, the temperature, the position of the patient.
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EXPERT CONSENSUS for MANAGEMENT:
Surgical morbi-mortality is higher than in the normal population and the risk of anesthetic complications is very high: these patients must therefore be managed in facilities where care of those complications can be taken. It is why : - a full neurological examination is necessary before general or locoregional anesthesia - imaging (MRI or CTscan) of the full spine is recommended - a flexion/extension MRI of the cervical spine is necessary if there is any concern about its stability - polysomnography, respiratory functional tests (restrictive or obstructive syndrome) and cardiac evaluation (echocardiography) must be considered before an anesthesia - morphological and functional anomalies of the upper airway, a decrease in mobility of the cervical spine and bronchial airway anomalies increase the morbidity and mortality of anesthesia - a sedative premedication can be administered before anesthesia - for intubation, a videolaryngoscope and a intubating fiberscope must be immediately available - tracheostomy can be extremely difficult in those patients, particularly in emergency; it is crucial to identify the position of the cricothyroid membrane (XRays, echography) before anesthesia - extubation must be preferably done in the operating room; if this may not be the case, an experienced team must be present - in patients in whom a fragility of the spinal cord is suspected (concept of spinal cord at risk : significant cyphosis, risk of hypotension, long lasting surgery, difficult surgical positioning), neurological monitoring must be done during the whole procedure, and it is better to avoid epidural anesthesia Reference:
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References :
- Belani KG, Krivit W, Carpenter BL, Braunlin E, Buckley JJ, Liao JC et al.
Children with mucopolysaccharidosis: perioperative care, morbidity, mortality, and new findings.
J Pediatr Surg 1993; 28:403-8.
- Yeung AH, Cowan MJ, Horn B, Rosbe KW.
Airway management in children with mucopolysaccharidoses.
Arch Otolaryngol Head Neck Surg 2009; 135: 73-9
- Frawley G, Fuenzalida D, Donath S, Yaplito-Lee J, Peters H.
A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses.
Pediatr Anesth 2012; 22: 737-44.
- Megens JHAM, de Wit M, van Hasselt PM, Boelens JJ, van der Werff DBM, de Graaff JC.
Perioperative complications in patients diagnosed with mucopolysaccharidosis and the impact of enzyme replacement therapy followed by hematopoietic stem cell transplantation at early age.
Pediatr Anesth 2014; 24: 521-7.
- Walker R, Belani KG, Braunlin EA, Bruce IA, Hack H, Harmatz PR, Jones S, Rowe R, Solanki GA, Valdemarsson B.
Anaesthesia and airway management in mucopolysaccharidosis.
J Inherit Metab Dis 2013; 36: 211-9.
- Scaravilli V, Zanella A, Ciceri V, Bosatra M et al.
Safety of anesthesia for children with mucopolysaccharidoses: a retrospective analysis of 54 patients.
Pediatr Anesth 2018; 28: 436-42.
- Dohrmann T, Muschol NM, Sehner S, Punke MA, Haas SA et al.
Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses : a retrospective cohort study.
Pediatr Anesth 2020 ; 30 : 181-90
- Kandil AI, Pettit CS, Berry LN, Busso VO, Raeskey M et al.
Tertiary pediatric academic institution’s experience with intraoperative neuromonitoring for nonspinal surgery in children with mucopolysaccharidosis based on a novel evidence-based care algorithm.
Anesth Analg 2020; 130: 1678-84.
- Gadepalli C, Stepien KM, Sharma R, Jovanovic A, Tol G, Bentley A.
Airway abnormalities in adult mucopolysaccharidosis and development of Salford mucopolysaccharidosis airway score.
J Clin Med 2021;10: 3275. doi.org/10.3390/jcm10153275
Updated: February 2024