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Hereditary Hemochromatosis Bill Cayley MD MDiv UW Health Augusta Family Medicine
Objectives ,[object Object],[object Object],[object Object],[object Object]
Clinical Case ,[object Object],[object Object],[object Object],[object Object],[object Object]
Clinical Case ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Clinical Case ,[object Object],[object Object],[object Object],[object Object]
Clinical Case ,[object Object],[object Object]
Hemochromatosis Overview ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Hemochromatosis Overview ,[object Object],[object Object],[object Object],[object Object]
Hemochromatosis Overview ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Iron Overload ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Epidemiology ,[object Object],[object Object],[object Object],[object Object]
Epidemiology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Pathophysiology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Pathophysiology ,[object Object],[object Object],[object Object],[object Object],[object Object]
Pathophysiology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Stages of Disease ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Clinical HH ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Clinical HH ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Clinical HH ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Clinical HH ,[object Object],[object Object],[object Object],[object Object]
HH: Signs & symptoms ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
HH: Signs & symptoms ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Clinical manifestations Artwork is reproduced, with permission, from the Johns Hopkins Gastroenterology and Hepatology Resource Center,  www.hopkins-gi.org, copyright 2006, Johns Hopkins University, all rights reserved.
Clinical manifestations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Diagnosis of HH ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Biochemical & genetic testing ,[object Object],[object Object],[object Object],[object Object],[object Object]
Biochemical & genetic testing ,[object Object],[object Object],[object Object]
Biochemical & genetic testing ,[object Object],[object Object],[object Object],[object Object]
Populations for evaluation ,[object Object],[object Object],[object Object],[object Object],[object Object]
Populations for evaluation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
HH: Diagnostic algorithm Clinical suspicion Fasting TfS & Ferritin If Ferritin > 1000 OR  ALT/AST elevated do liver bx Genotype if TfS AND  Ferritin elevated If Heterozygous evaluate for other liver dz If Homozygous C282Y/C282Y: Phlebotomy If TfS OR Ferritin elevated evaluate for other liver dz No further eval if normal Adapted from  Am J Med 119:391 &  Hepatology 33:1321
Treatment ,[object Object],[object Object],[object Object]
Phlebotomy Artwork is reproduced, with permission, from the Johns Hopkins Gastroenterology and Hepatology Resource Center,  www.hopkins-gi.org, copyright 2006, Johns Hopkins University, all rights reserved
Phlebotomy ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Screening ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Screening ,[object Object],[object Object],[object Object],[object Object]
Screening Recommendations ,[object Object],[object Object]
Screening Recommendations ,[object Object],[object Object]
Screening Recommendations ,[object Object],[object Object]
Summary ,[object Object],[object Object],[object Object],[object Object],[object Object]
Resources ,[object Object],[object Object],[object Object]
Resources ,[object Object],[object Object],[object Object]
Resources ,[object Object],[object Object],[object Object]
Resources ,[object Object],[object Object],[object Object]

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Hemochromatosis1

  • 1. Hereditary Hemochromatosis Bill Cayley MD MDiv UW Health Augusta Family Medicine
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  • 23. Clinical manifestations Artwork is reproduced, with permission, from the Johns Hopkins Gastroenterology and Hepatology Resource Center, www.hopkins-gi.org, copyright 2006, Johns Hopkins University, all rights reserved.
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  • 31. HH: Diagnostic algorithm Clinical suspicion Fasting TfS & Ferritin If Ferritin > 1000 OR ALT/AST elevated do liver bx Genotype if TfS AND Ferritin elevated If Heterozygous evaluate for other liver dz If Homozygous C282Y/C282Y: Phlebotomy If TfS OR Ferritin elevated evaluate for other liver dz No further eval if normal Adapted from Am J Med 119:391 & Hepatology 33:1321
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  • 33. Phlebotomy Artwork is reproduced, with permission, from the Johns Hopkins Gastroenterology and Hepatology Resource Center, www.hopkins-gi.org, copyright 2006, Johns Hopkins University, all rights reserved
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