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Download Anaesthetic management of a child with a rare disease
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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 website tyniurl.com/m-rares Syndromes & Maladies rares en pédiatrie: anesthésie with 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 disease 2) 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 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 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 JOIN THE NETWORK [email protected] [email protected]
