Rare diseases in everyday practice « Google anaesthesia » ? F Veyckemans Clin univ. St Luc...
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Transcript of Rare diseases in everyday practice « Google anaesthesia » ? F Veyckemans Clin univ. St Luc...
Rare diseases in everyday practice« Google anaesthesia » ?
F Veyckemans
Clin univ. St Luc Brussels, Belgium
Outline
definition & queries sources of information pitfalls to prepare anaesthesia conclusion
Conflict of interest
Responsible for the websitetyniurl.com/m-raresSyndromes & Maladies rares en pédiatrie: anesthésiewith Prof J-L Scholtes (Brussels)
Outline
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 disease2) any increased anaesthetic risk ?3) any special issue(s) regarding perianaesthetic care ?
Outline
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 diseaseInternet: « disease and anaesthesia »* Pubmed* Google * Orphanet name emergency care* VIRTANES maladies rares de l’enfant
Or discussion lists : PAC
Outline
definition & queriessources 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 chromosomeone protein RNAm one function environmental factorsone 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
definition & queries sources of information pitfalls to prepare anaesthesia conclusion
My way
To summarize informations
evaluate anaesthetic risk plan anaesthesia
NARCO acronymNARCO acronym
NeuromuscularAirwayRespiratoryCardiovascularOthers
Malviya S, Voepel-Lewis T, Chiravuri SD et al. Does an objective system-based 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
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 %) annual death rate: 3%
Difficult veins
Cardiac echo
Short fastingNight oximetry
IV hydrocortisone
recovery
Postop monitoring
Mask fit, intubation
treatment
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
APRICOTAPRICOT
[email protected]@gmail.com
Anaesthesia Practice In Children Observational Trial
European prospective multicenter observational study: Epidemiology of severe critical events
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