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  1. 1. Nov 2009 Alström conference Leeds A sincere thank you
  2. 2. Nov 2009 Alström conference Leeds <ul><li>Carl Henry Alström 1959: </li></ul><ul><li>Retinal degeneration </li></ul><ul><li>Deafness </li></ul><ul><li>Obesity </li></ul><ul><li>Insulin resistance </li></ul><ul><li>Preserved intelligence </li></ul>
  3. 3. Nov 2009 Alström conference Leeds <ul><li>Torbay’s role - Defining the phenotype </li></ul><ul><li>Infantile cardiomyopathy (I R E and GW) </li></ul><ul><li>Adolescent cardiomyopathy </li></ul><ul><li>Hyperlipidaemia </li></ul><ul><li>Smooth muscle dysfunction </li></ul><ul><li>Hepatic fibrosis </li></ul><ul><li>Heterogeneous diabetes </li></ul><ul><li>Renal failure </li></ul><ul><li>Spinal problems </li></ul><ul><li>Hormone deficiencies ( Flintoff ) </li></ul>
  4. 4. Nov 2009 Alström conference Leeds <ul><li>Family perspective </li></ul><ul><li>“ If you had only paid more attention to her organs instead of her diet she might be alive now” </li></ul>
  5. 5. Nov 2009 Alström conference Leeds ? Alström gene mutations Eye and ear problems Insulin resistance and diabetes Fibrosis of major organs
  6. 6. Nov 2009 Alström conference Leeds <ul><li>In favour </li></ul><ul><li>Type 2 diabetes </li></ul><ul><li>Liver-insulin resistance </li></ul><ul><li>Risks for kidney failure </li></ul><ul><li>High Trigs </li></ul><ul><li>Heart failure </li></ul><ul><li>Against </li></ul><ul><li>Minimal atheroma </li></ul><ul><li>Nerves spared </li></ul><ul><li>PKD </li></ul><ul><li>Cardiac,renal and hepatic fibrosis in absence of diabetes </li></ul>
  7. 7. Nov 2009 Alström conference Leeds <ul><li>Why be fit with Alström? </li></ul><ul><li>Good Wellbeing </li></ul><ul><li>Avoid intrusive therapies </li></ul><ul><li>Fitness for surgery </li></ul><ul><li>Maintain mobility </li></ul>
  8. 8. Nov 2009 Alström conference Leeds <ul><li>The place of medication </li></ul><ul><li>Diabetes Metformin, Glitazones Incretins or low dose insulin (heart and kidneys) </li></ul><ul><li>Hyperlipidaemia Niaspan </li></ul><ul><li>Kidney disorder Blood pressure control </li></ul><ul><li>The heart Standard therapies </li></ul>
  9. 9. Nov 2009 Alström conference Leeds <ul><li>Transfer to Birmingham </li></ul><ul><li>To monitor the condition with annual review: </li></ul><ul><li>a) To prevent or slow organ damage. </li></ul><ul><li>b) To prepare for early organ transplantation where necessary. </li></ul><ul><li>c) To research new treatments </li></ul>
  10. 10. Nov 2009 Alström conference Leeds <ul><li>“ If you had only paid more attention to her organs instead of her diet she might be alive now ” </li></ul>
  11. 11. Nov 2009 Alström conference Leeds For Anthony Susannah Mathew Anisa Chloe Emma Tracey
  12. 12. Nov 2009 Alström conference Leeds <ul><li>Early detection and treatment of kidney problems </li></ul><ul><li>Early detection and treatment of liver problems </li></ul><ul><li>Early detection and treatment of heart problems </li></ul><ul><li>Profile and treatment of diabetes in the syndrome </li></ul>
  13. 13. Nov 2009 Alström conference Leeds Alstrom International conference 24thto28th June2010 Georgia USA 75 Alstrom families expected ? Video conference

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