RT Book, Section
A1 Powell, Lawrie W.
A2 Jameson, J. Larry
A2 Fauci, Anthony S.
A2 Kasper, Dennis L.
A2 Hauser, Stephen L.
A2 Longo, Dan L.
A2 Loscalzo, Joseph
SR Print(0)
ID 1156564072
T1 Hemochromatosis
T2 Harrison's Principles of Internal Medicine, 20e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259644016
LK accessmedicine.mhmedical.com/content.aspx?aid=1156564072
RD 2024/04/19
AB Hemochromatosis  results  from  a  relatively  common  inherited  genetic  mutation  in  European  populations.  Once  thought  to  be  a  single  disease  entity  it  is  now  known  to  be  an  iron-storage  disorder  with  genetic  heterogeneity  but  with  a  final  common  metabolic  pathway  resulting  in  inappropriately  low  production  of  the  hormone  hepcidin.  This  leads  to  an  increase  in  intestinal  iron  absorption  and  the  deposition  of  excessive  amounts  of  iron  in  parenchymal  cells  with  eventual  tissue  damage  and  organ  failure.  Thus,  the  term  hemochromatosis  now  refers  to  a  group  of  genetic  diseases  that  predispose  to  iron  overload,  potentially  leading  to  fibrosis  and  organ  failure.  Cirrhosis  of  the  liver,  diabetes  mellitus,  arthritis,  cardiomyopathy,  and  hypogonadotropic  hypogonadism  are  the  major  clinical  manifestations.