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Rare diseases in everyday practice « Google anaesthesia » ? F Veyckemans Clin univ. St Luc Brussels, Belgium.

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Presentation on theme: "Rare diseases in everyday practice « Google anaesthesia » ? F Veyckemans Clin univ. St Luc Brussels, Belgium."— Presentation transcript:

1 Rare diseases in everyday practice « Google anaesthesia » ? F Veyckemans Clin univ. St Luc Brussels, Belgium

2 Outline definition & queries sources of information pitfalls to prepare anaesthesia conclusion

3 Conflict of interest Responsible for the website tyniurl.com/m-rares Syndromes & Maladies rares en pédiatrie: anesthésie with Prof J-L Scholtes (Brussels)

4 Outline definition & queries sources of information pitfalls to prepare anaesthesia conclusion

5 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

6 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 !

7 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 ?

8 Outline definition & queries sources of information pitfalls to prepare anaesthesia conclusion

9 Sources of information (1) On the disease : Books -Inborn metabolic diseases, 5 th ed, Saudubray & coll (Springer, 2012). -Smith’s recognizable patterns of human malformations 6 th ed, KL Jones (Elsevier Saunders, 2006) -Atlas of Metabolic Diseases 2 nd ed WL Nyhan & coll (Hodder Arnold, 2005)

10 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

11 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

12 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

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14 Outline definition & queries sources of information pitfalls to prepare anaesthesia conclusion

15 Different names for the same disease Treacher-Collins = Franceschetti-Klein = mandibulofacial dysostosis

16 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

17 Genetics are complex

18 one gene  one protein  one function  one phenotype

19 Genetics are complex one gene other controller/inhibitor genes  inactivation of chromosome one protein RNAm  one function  environmental factors one phenotype

20 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

21 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

22 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 ?)

23 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

24 Validity of the information ? Medical progress often results in -prolonged survival -modification of evolution (gene therapy, transplantation)

25 Validity of the information ! -child’s parents -child’s paediatrician: personal contact !  specific information on this child

26 Outline definition & queries sources of information pitfalls to prepare anaesthesia conclusion

27 My way To summarize informations evaluate anaesthetic risk plan anaesthesia

28 NARCO acronym Neuromuscular Airway Respiratory Cardiovascular Others 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

29 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 ?

30 Basic questions Cardiovascular : congenital heart disease ? dysrythmias ? cardiomyopathy ? Others : special diet ? tolerates fasting ? previous anaesthesia ? psychological issues ?

31 Example : Willi-Prader syndrome - 1/10,000 - deletion of 15 q11-q13 of paternal origin - mental retardation - morbid obesity - behaviour problems - hypogenitalism - epilepsy - rumination, mericism

32 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%

33 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 fasting Night oximetry IV hydrocortisone recovery Postop monitoring Mask fit, intubation treatment

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35 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

36 Outline definition & queries sources of information pitfalls to prepare anaesthesia conclusion

37 Conclusion (1) check the name seek information : disease / anaesthesia - textbooks - internet : time of update ? Orphanet  Orphanaesthesia ? standard but focused preop examination summarize with NARCO

38 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

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40 APRICOT Anaesthesia Practice In Children Observational Trial European prospective multicenter observational study: Epidemiology of severe critical events JOIN THE NETWORK


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