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

research@esahq.orgesa.apricot@gmail.com

Anaesthesia Practice In Children Observational Trial

European prospective multicenter observational study: Epidemiology of severe critical events

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