Metabolic Liver Disease definitions by Dr. Ashish Bavdekar

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  • Modes of clinical presentation are limited but pathological processs are many
  • Metabolic Liver Disease definitions by Dr. Ashish Bavdekar

    1. 1. Metabolic Liver Disease- getting the definitions right Dr. Ashish Bavdekar Associate ProfessorConsultant Ped. Gastroenterologist K.E.M. Hospital, Pune bavdekar@vsnl.com
    2. 2. The liver has a limited repertoire of responses
    3. 3. A B C D E
    4. 4. Functional classification of MLDs• No harmful effect• Liver morphologically N, largely undamaged but severe effects on other organs – Aminoacidopathies, CNS, PHO• Some morphological effects in liver but principal damage on other organs – UCD, GSD VI/IX• Slow liver damage in childhood but major effects on other systems – GSD I/III• Significant liver injury in infancy and childhood – Galactosemia, Tyrosinemia, WD, etc
    5. 5. • Defect confined to liver – Tyrosinemia – WD – PFIC II/III – GSD I• Defect not confined to liver – Cystic fibrosis – GSD III – LSDs – PFIC I
    6. 6. CLD in IndiaN=809, Average of Pooled data (Six Medical Centres) 7% 11% Unknown 41% ??? Metabolic 19% 22% Wilsons Others Auto immune
    7. 7. PATTERN OF LIVER DISEASE AT KEM HOSPITAL, PUNE (1980-2010) AVERAGE ANNUAL INCIDENCE (cases / year)LIVER DISEASE 1980-84 85-89 90-94 95-99 2000-2010Indian Childhood Cirrhosis 37 23 4 2 1Wilson’s Disease 2 4 7 14 22Metabolic liver disease 2 5 10 20 38Neonatal Cholestasis 9 10 28 42 58Chronic Hepatitis 9 6 7 8 12Miscellaneous 18 9 13 23 32TOTAL 77 57 69 109 174
    8. 8. MLD – Early presentation• Galactosemia • PFIC• Tyrosinemia • Bile acid defects• Alpha-1-AT defic. • Fructosemia• Niemann Pick C • Peroxisomal diseases• Cystic fibrosis • Wolman’s disease• NN Hemochromatosis • Mitochondrial disorders
    9. 9. MLD – Later presentations• Glycogen storage disease• Wilson’s disease• Lipid storage – Gaucher’s, Niemann-Pick• Congenital disorders of glycosylation• MPS• Cystic fibrosis• Tyrosinemia
    10. 10. Metabolic liver diseaseProblems in diagnosis * Considered rare * Signs and symptoms non specific * Sepsis may accompany MLD * Though hereditary, sporadic cases * Genetic heterogenecity * Lack of diagnostic facilities
    11. 11. Suspect metabolic liver disease ?• Family history / consanguinity• Developmental delay, recurrent episodes• Early liver failure, encephalopathy• Massive H/Smegaly but no jaundice• Rickets, dysmorphism, FTT, eye• Hypoglycemia, severe coagulopathy• Liver biopsy - steatosis
    12. 12. Presentation of MLDs• Liver failure• Encephalopathy or Reye-like• Chronic cholestasis• Hepatomegaly/Splenomegaly• Unconjugated jaundice
    13. 13. SUMMARY* Individually rare, collectively common* High index of suspicion* Development of diagnostic facilities* Long term outcome

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