Download Anaesthetic management of a child with a rare disease

Rare diseases in everyday practice
« Google anaesthesia » ?
F Veyckemans
Clin univ. St Luc
Brussels, Belgium
Outline
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definition & queries
sources of information
pitfalls
to prepare anaesthesia
conclusion
Conflict of interest
Responsible for the website
tyniurl.com/m-rares
Syndromes & Maladies rares en pédiatrie: anesthésie
with Prof J-L Scholtes (Brussels)
Outline
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definition & queries
sources of information
pitfalls
to prepare anaesthesia
conclusion
What is a rare disease?
< 1/2000 in the general population
but depends on country
population clustering
clinical recruitment
e.g., Duchenne
microdeletion ch 22
The anaesthesiologist’s perspective
1) care for a « rare disease » patient
during a brief
but often critical period of time
2) consider a disease is rare
at the first time we meet it !
The anaesthetist’s queries
1) what is it ?
malformative syndrome
metabolic disease
muscle disease
2) any increased anaesthetic risk ?
3) any special issue(s)
regarding perianaesthetic care ?
Outline
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definition & queries
sources of information
pitfalls
to prepare anaesthesia
conclusion
Sources of information (1)
On the disease : Books
- Inborn metabolic diseases, 5thed,
Saudubray & coll
(Springer, 2012).
- Smith’s recognizable patterns of
human malformations 6thed,
KL Jones (Elsevier Saunders, 2006)
- Atlas of Metabolic Diseases 2nded
WL Nyhan & coll
(Hodder Arnold, 2005)
Sources of information (1)
On the disease : Internet
* Google
* Orphanet  name : expert summary + peer reviewed
* OMIM: omim.org online Mendelian inheritance
* GARD: Genetic & Rare Diseases information center
* NORD
* pubmed
* disease-related website: parents’ groups
Sources of information (2)
Anaesthetic management of the disease
Books
- Anesthesia for genetic, metabolic & dysmorphic
syndromes of childhood Baum & O’Flaherty
(Lippincott, Williams & Wilkins, 2007)
- Genetic syndromes : recognition and
perioperative aspects. B Bissonnette, B Dalens ..
(McGraw-Hill, 2006)
- most Textbooks on Paediatric Anaesthesia
contain a chapter on the most common rare
diseases or syndromes
Sources of information (2)
Anaesthetic management of the disease
Internet: « disease and anaesthesia »
* Pubmed
* Google
* Orphanet  name
 emergency care
* VIRTANES  maladies rares de l’enfant
Or discussion lists : PAC
Outline
 definition & queries
 sources of information
 pitfalls
 to prepare anaesthesia
 conclusion
Different names for the same disease
Treacher-Collins
= Franceschetti-Klein
= mandibulofacial
dysostosis
Different diseases with similar name
e.g.,
Hecht-Beals syndrome
= congenital arachnodactyly with contractures
CCA syndrome  marfanoid syndrome
Hecht syndrome
= Dutch-Kentucky syndrome
= trimus pseudocamptodactyly syndrome
= distal arthrogryposis type 7
 difficult airway
Genetics are complex
Genetics are complex
one gene

one protein

one function

one phenotype
Genetics are complex
one gene
other controller/inhibitor genes

inactivation of chromosome
one protein RNAm

one function

environmental factors
one phenotype
Genetics are complex
 one phenotype can result
from different mutations/genes
 mutation(s) of one gene
 different phenotypes
 variable penetrance of some mutations
 many mutations are sporadic
 no familial history
 results often not available in time
Validity of the information ?
* Google
- ranking of links
according to a complex algoritm
not to quality of data
- check : source of data ? Wikipedia
date of last update
Validity of the information?
• Case reports
- often isolated cases
- relative scientific value
 no problem : luck ?
 complication : cause-effect vs association ?
poor management ?
- date : old drugs ?
+ description of the disease from the
anaesthetist’s point of view (date ?)
Validity of the information ?
Ideal: case series
« data from case series for a rare condition
may be the best evidence
a clinician can rely on »
The Oxford Levels of Evidence 2, 2013
Oxford Centre for Evidence-Based Medicine
Validity of the information ?
Medical progress often results in
- prolonged survival
- modification of evolution
(gene therapy, transplantation)
Validity of the information !
- child’s parents
- child’s paediatrician: personal contact !
 specific information on this child
Outline
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

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definition & queries
sources of information
pitfalls
to prepare anaesthesia
conclusion
My way
To summarize informations
evaluate anaesthetic risk
plan anaesthesia
NARCO acronym
Neuromuscular
Airway
Respiratory
Cardiovascular
Others
Malviya S, Voepel-Lewis T, Chiravuri SD et al. Does an objective systembased approach improve assessment of perioperative risk in children? A
preliminary evaluation of the NARCO. Br J Anaesth 2011; 106: 352-6
Basic questions
Neuromuscular: developmental delay ?
seizures : controlled or not ?
spasticity, contractures, hypotonia ?
medical treatment ?
Airway : difficult intubation/ventilation ?
risk for regurgitation/inhalation ?
obstructive sleep apnoea ?
Respiratory : reactive airway ?
restrictive or obstructive syndrome ?
chronic lung infection ?
Basic questions
Cardiovascular : congenital heart disease ?
dysrythmias ?
cardiomyopathy ?
Others : special diet ?
tolerates fasting ?
previous anaesthesia ?
psychological issues ?
Example : Willi-Prader syndrome
- 1/10,000
- deletion of 15q11-q13
of paternal origin
- mental retardation
- morbid obesity
- behaviour problems
- hypogenitalism
- epilepsy
- rumination, mericism
Example : Willi-Prader syndrome
N mental retardation, epilepsy, behavioural problems
hyperphagia
A small mouth, micrognathia
R central & obstructive sleep apnoea,
gastrooesophageal reflux, scoliosis
decreased response to hypoxaemia/hypercarbia
C systemic hypertension, cor pulmonale
O obese, short stature
 pain threshold
central adrenal insufficiency during stress (60 %)
spontaneous annual death rate: 3%
Example : Willi-Prader syndrome
treatment
N mental retardation, epilepsy, behavioural problems
hyperphagia
Short fasting
A small mouth, micrognathia
Night oximetry
Mask fit, intubation
R central & obstructive sleep apnoea, gastrooesophageal reflux,
scoliosis
decreased response to hypoxaemia/hypercarbia recovery
C systemic hypertension, cor pulmonale
O obese, short stature
Cardiac echo
Difficult veins
 pain threshold
central adrenal insufficiency during stress (60 %)
annual death rate: 3%
IV hydrocortisone
Postop monitoring
This patient is also a child !
Do not overlook the basics :
- personal history
- allergies ?
- haemostasis ?
- upper airway: infection ? difficult airway?
- passive smoking ?
- easy veins ?
- BP, auscultation
Outline





definition & queries
sources of information
pitfalls
to prepare anaesthesia
conclusion
Conclusion (1)
 check the name
 seek information : disease / anaesthesia
- textbooks
- internet : time of update ?
 Orphanet  Orphanaesthesia ?
 standard but focused preop examination
 summarize with NARCO
Conclusion (2)
- a few keys to help manage a child
with a rare disease
- increase interest in rare diseases
- suggestion: creation of a national/APA registry of
anaesthetics for patients with a rare disease
 source of information
APRICOT
Anaesthesia Practice In Children Observational Trial
European prospective multicenter observational
study: Epidemiology of severe critical events
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