Muscle Biopsies and Anaesthesia BCH Data

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  • Alistair left us with 2 questions I will ask a few more questions to help answer
  • First a picture quiz. I will be asking questions
  • Group of inherited conditions, Duchenne famously X linked Caracterised byProgressive weakness Abnormal protein complex dystrophin leads to weakness and musscle cell death
  • Hypotonia, Muscle weakness (proximal), poor muscle bulk. Sometimes dysmorphic features. Relatively non progressive. Distinctive morphological features diagnosed on Bx 1 Nemaline typically non progressive – rocky start but independent life 2 Talk about in a minute 3 Centronuclear Severe sex linked death before age 2 4. Minimulticore. Progressive, skeletal abnormalities, rare cardiac abnormalities 5. Disproportionate type 1 fibres generalised weakness tends to improve with age Only 14 % of hypotonic infants therefore quite a lot of negative biopsies H
  • Come back to central core disease later
  • 3Hereditary - multiple genes Several chromosomes:
  • King described a subgroup of malignant hyperthermia patients with slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, and a characteristic facial appearance. Multiminicore disease Onset occurs in infancy or early childhood and is characterized by hypotonia and proximal weakness. Antenatal polyhydramnios and decreased fetal movements are often noted. Facial and bulbar weakness are common. Progressive respiratory insufficiency often occurs out of proportion to muscle weakness.
  • CDH scoliosis and foot deformities Case reports of MH due to undiagnosed CCD
  • Cardiac arrest well reported. Many due to sux Prolonged use of volatiles
  • Cardiomyopathy
  • Ording, H, MD. Incidence of MH in Denmark. Anesth Analg . 1985;64:700-4 To date, the study done by Ording on the incidence of MH in Denmark is probably the best epidemiologic study available. The results are based on the information supplied to the Danish Malignant Hyperthermia Registry. In this study, the incidence of fulminant MH was 1 in 250,000 anesthetic procedures and 1 in 62,000 anesthetic procedures with a combination of potent inhalation agents and succinylcholine ( 11 ). (refer to table)
  • 1 Rhabdomyolisis diagnosed at Bx before volatile given!!!
  • And that should be the end of it! But I have a couple of BUTS
  • In the recovery room. 4 received Dantrolene.
  • unavoidable do a risk assessment, Based on the prejudices of the speaker having reviewed the evidence if
  • Muscle Biopsies and Anaesthesia BCH Data

    1. 1. Muscle Biopsies and Anaesthesia BCH Data 2005-2008
    2. 2. So what is the problem? <ul><li>Links between muscular disorders and anaesthetics </li></ul><ul><ul><li>MH risk and volatiles </li></ul></ul><ul><ul><ul><li>25% linkage to CCD </li></ul></ul></ul><ul><ul><ul><li>Weak linkage to minicore disease </li></ul></ul></ul><ul><ul><li>Propofol and mitochondria? </li></ul></ul><ul><li>How can we decide what anaesthetic to give in the absence of a confirmed diagnosis? </li></ul>
    3. 3. Anaesthetic Database and ICE lab results <ul><li>Anaesthetic given and histological diagnosis </li></ul><ul><li>Searched anaesthetic database for all procedures including muscle biopsy where full data is available (2005 >) </li></ul><ul><ul><li>Pre op conditions </li></ul></ul><ul><ul><li>Anaesthetic details </li></ul></ul><ul><li>Searched ICE for muscle biopsy histology </li></ul>
    4. 4. Results 1 <ul><li>35 cases identified </li></ul><ul><li>Histology available in 32 </li></ul><ul><li>Median age 2 (IQR 0.5-8) </li></ul><ul><li>33 anaesthetised by Consultant </li></ul><ul><li>2 anaesthetised by SpR </li></ul>
    5. 6. Results 2: Anaesthetist’s reported diagnosis DIAGNOSIS NUMBER Myopathy 14 (of which 1 stated minicore) Mitochondrial disorder 3 Other muscle problem 1 Neurological problem 2 Other problem 4 No factor recorded 11
    6. 7. Results 3: Anaesthetics <ul><li>Induction </li></ul><ul><ul><li>Sevoflurane 17 </li></ul></ul><ul><ul><li>Propofol 16 </li></ul></ul><ul><ul><li>Ketamine 1 </li></ul></ul><ul><ul><li>Spinal 1 </li></ul></ul><ul><li>Maintenance </li></ul><ul><ul><li>Volatile 30 </li></ul></ul><ul><ul><ul><li>Isoflurane 18 </li></ul></ul></ul><ul><ul><ul><li>Sevoflurane 12 </li></ul></ul></ul><ul><ul><li>Propofol 2 </li></ul></ul><ul><ul><li>Propofol / ketamine 1 </li></ul></ul><ul><ul><li>Ketamine 1 </li></ul></ul><ul><ul><li>Spinal 1 </li></ul></ul>
    7. 8. Results 4: local blocks <ul><li>Infiltration 25 </li></ul><ul><li>Regional 6 </li></ul><ul><ul><li>Caudal 4 </li></ul></ul><ul><ul><li>Epidural 1 (other surgery also) </li></ul></ul><ul><ul><li>Spinal 1 </li></ul></ul><ul><li>None stated 2 </li></ul>
    8. 9. Results 5: Histology (32/35) DIAGNOSIS NUMBER Non specific changes etc 11 Neurological problem 7 (2 may be mitochondrial cytopathy also) Mitochondrial myopathy 4 (including 2 above) Minicore disease 3 Muscular dystrophy 3 Central core disease 2 Other congenital myopathy 2 Other metabolic problem 2
    9. 10. Did the Pre-op diagnosis match the histology? <ul><li>Yes 10 </li></ul><ul><li>No 12 </li></ul><ul><li>Unstated 11 </li></ul><ul><li>No report 3 </li></ul><ul><li>For 2 CCD: </li></ul><ul><ul><li>no diagnosis recorded </li></ul></ul><ul><li>For 3 MCD: </li></ul><ul><ul><li>1 minicore, 1 cong. myopathy, 1 none recorded </li></ul></ul>
    10. 11. Search of all cases on database where there is risk of MH <ul><li>Central core disease 6 </li></ul><ul><ul><li>25% linkage </li></ul></ul><ul><ul><ul><li>Induction: 2 propofol 4 sevo </li></ul></ul></ul><ul><ul><ul><li>Maintenance: 1 propofol 5 volatile </li></ul></ul></ul><ul><li>Minicore disease 8 </li></ul><ul><ul><li>Weak linkage </li></ul></ul><ul><ul><ul><li>Induction: 7 propofol 1 sevo </li></ul></ul></ul><ul><ul><ul><li>Maintenance: 4 propofol 4 volatile </li></ul></ul></ul>
    11. 12. Duchenne Muscular Dystrophy <ul><li>Risk of rhabdomyolysis with volatiles? </li></ul><ul><li>17 cases recorded (9 spine surgery) </li></ul><ul><ul><ul><li>Induction: 14 propofol 3 sevo </li></ul></ul></ul><ul><ul><ul><li>Maintenance: 8 propofol 9 volatile (2 both) </li></ul></ul></ul>
    12. 13. Conclusions and Questions <ul><li>? Recording of pre existing conditions </li></ul><ul><li>Pre op diagnosis wrong >50% of time </li></ul><ul><li>CCD or MCD and potential MH </li></ul><ul><ul><li>5/35 of muscle biopsies had this diagnosis </li></ul></ul><ul><ul><li>9/14 CCD or MCD patients received volatiles </li></ul></ul><ul><li>9/17 DMD patients received volatiles </li></ul><ul><li>What should we do for muscle biopsies where diagnosis is unknown? </li></ul><ul><li>What should we do for CCD, MCD and DMD where diagnosis is known? </li></ul>
    13. 14. Anaesthesia for Muscle Biopsies Rob Alcock RJAH Orthopaedic and General Hospital NHS Trust
    14. 15. <ul><li>What Should We Do for Muscle Biopsies Where Diagnosis is Unknown? </li></ul><ul><li>What Should We Do for CCD, MCD and DMD Where Diagnosis is Known? </li></ul><ul><li>What Neuromuscular Diseases are Out There? What are their Frequencies? </li></ul><ul><li>What Problems Might We Encounter? </li></ul><ul><li>What are the Risks? </li></ul>Anaesthesia for Muscle Biopsies
    15. 17. What conditions are biopsied? <ul><li>Muscular Dystrophies </li></ul><ul><li>Congenital Myopathies </li></ul><ul><li>Mitochondrial Myopathies </li></ul><ul><li>Metabolic muscle disease </li></ul><ul><li>Myositis and Dermatomyositis </li></ul><ul><li>Periodic Paralysis </li></ul><ul><li>Myotonias and Myotonic Dystrophy </li></ul>
    16. 18. Muscular Dystrophies <ul><li>Duchenne Muscular Dystophy (DMD) 1:5,000 </li></ul><ul><li>Becker Muscular Dystrophy 1:18,000 </li></ul><ul><li>Emery Dreyfuss Dystrophy 1: 100,000 </li></ul><ul><li>Fascioscapulohumeral Dystrophy 1:20,000 </li></ul>
    17. 19. Congenital Myopathies <ul><li>Incidence 1:1000 </li></ul><ul><li>6000 in the W Midlands </li></ul><ul><li>Main Symptom is Hypotonia </li></ul><ul><li>Only 14% of Hypotonic infants </li></ul>
    18. 20. Congenital Myopathies <ul><li>Nemaline Rod Myopathy 20% </li></ul><ul><li>Central Core Myopathy 16% </li></ul><ul><li>Centronuclear Myopathy 14% </li></ul><ul><li>Minimulticore Myopathy 10% </li></ul><ul><li>Disproportionate Fibre Type Myopathy 21% </li></ul><ul><li>Rare Forms 19% </li></ul>
    19. 21. What Are We Worrying About? <ul><li>Malignant Hyperpyrexia </li></ul><ul><li>Conditions Associated with Malignant Hyperpyrexia </li></ul><ul><li>Muscular Dystrophy </li></ul><ul><li>General Considerations </li></ul>
    20. 22. Malignant Hyperpyrexia (MH) <ul><li>Spectrum of Pharmacogenetic Disorders </li></ul><ul><li>Disorder of Calcium Homeostasis </li></ul><ul><li>Triggered by Suxamethonium and Volatile Anaesthetics </li></ul><ul><li>Frequently associated with Ryanodine Ca Efflux Channel on the Sarcoplasmic Reticulum </li></ul><ul><li>Previous Uneventful Exposure to Triggers does not rule out MH </li></ul><ul><li>Diagnosed by In vitro Contracture Test </li></ul>
    21. 23. Masseter Spasm <ul><li>Defined as lasting > 2 mins after Administration of Suxamethonium </li></ul><ul><li>30% may prove to have MH </li></ul><ul><li>Wait </li></ul><ul><li>Resort to Trigger Free Anaesthesia </li></ul>
    22. 24. Genetics of MH <ul><li>19q11.2-13.2 Ryanodine (RyR1):- Release of Ca 2+ stores from sarcoplasmic reticulum </li></ul><ul><li>17q11.2-q24:- Altered sodium channel functioning </li></ul><ul><li>7q21.1 Dihydropyridine (DHP):- voltage sensor for RyR1 </li></ul><ul><li>1q32 CACNL1A3 gene encoding the alpha 1-subunit of the voltage-gated DHP receptor that interacts with RyR1 </li></ul>
    23. 25. Conditions Associated with MH <ul><li>Central Core Myopathy </li></ul><ul><li>Minicore or Multiminicore Myopathy </li></ul><ul><li>King Denborough syndrome </li></ul>
    24. 26. Central Core Myopathy <ul><li>The most common presentation is at birth or in early childhood with weakness and hypotonia, slowly progressive. </li></ul><ul><li>Also present in adolescence as slowly progressive limb-girdle syndrome </li></ul><ul><li>Skeletal Abnormalities are Common </li></ul><ul><li>Asymptomatic individuals may present with CK or MH </li></ul><ul><li>25% of patients are susceptible to MH </li></ul>
    25. 27. Muscular Dystrophy <ul><li>Malignant Hyperthermia Association of the United States (MHAUS) </li></ul><ul><li>3 Cases Life Threatening Hyperkaemia </li></ul><ul><li>Duchenne & Becker </li></ul><ul><li>Following Use of Volatile Agents </li></ul>
    26. 28. General Considerations <ul><li>Avoid Suxamethonium in Children with Neuromuscular Disease </li></ul><ul><li>Avoid Hypothermia </li></ul><ul><li>Cardiac Problems associated with Dystrophies? </li></ul><ul><li>Respiratory muscle weakness </li></ul>
    27. 29. What are the Risks?
    28. 30. Fulminant MH Abortive MH Overall Incidence Incidence of Different Forms of MH in Relation to Type of Anesthesia <ul><li>- Total Number of Anesthetics 1:251,063 1:17,435 1:16,303 </li></ul><ul><li>- General Anesthesia 1:221,811 1:15,404 1:14,403 </li></ul><ul><li>- Anesthesia with Inhalation Agent 1:84,488 1:6,653 1:6,167 </li></ul><ul><li>- With Sux 1:61,961 1:4,506 1:4,201 </li></ul><ul><li>Without Sux 1:174,597 1:20,541 1:18,379 </li></ul><ul><li>Anesthesia with Sux 1:140,006 1:8,819 1:8,297 </li></ul>
    29. 31. Anaesthesia for Biopsy? <ul><li>Randall et al Paediatric Anaesthesia 2007;17:22-27 </li></ul><ul><li>351 Patients with a Variety of NM Disorders </li></ul><ul><li>274 Received Volatile Agents </li></ul><ul><li>3 Received Sux! </li></ul><ul><li>No Cases of MH or Rhabdomyolysis </li></ul><ul><li>Conclusion: Risk of MH < 1% </li></ul>
    30. 34. Anaesthesia for Biopsy? <ul><li>Carr et al Can. J Anaes. 1995;42: 281-286 </li></ul><ul><li>2,214 Pts with suspected MH Sensitivity Undergoing Muscle Biopsy </li></ul><ul><li>Trigger Free Anaesthesia </li></ul><ul><li>97% GA </li></ul><ul><li>1082 were positive </li></ul><ul><li>5 Patients had MH reactions </li></ul>
    31. 35. Mitocondrial Myopathies <ul><li>Case Reports of Resp and CV Depression, Lactic Acidosis and Rhabdomyolysis after Prolonged Propofol Anaesthesia </li></ul><ul><li>Propofol is Highly Metabolised </li></ul><ul><li>Volatiles are Minimally Metabolised </li></ul><ul><li>Should Propofol be Avoided? </li></ul>
    32. 36. Conclusion <ul><li>Patients for Bx Should Ideally be Anaesthetisd in the Absence of Volatiles. </li></ul><ul><li>Patients with Known CCD, MCD and DMD Should be Anaesthetised without Volatiles. </li></ul><ul><li>Patients with Known Mitochondrial Disease Should be Anaesthetised with Volatiles. </li></ul><ul><li>No-one with NMD Should be given Sux! </li></ul>

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