RT Book, Section
A1 Kasper, Dennis L.
A1 Fauci, Anthony S.
A1 Hauser, Stephen L.
A1 Longo, Dan L.
A1 Jameson, J. Larry
A1 Loscalzo, Joseph
SR Print(0)
ID 1128787984
T1 Hemochromatosis, Porphyrias, and Wilson’s Disease
T2 Harrison's Manual of Medicine, 19e
YR 2016
FD 2016
PB McGraw-Hill Education
PP New York, NY
SN 9780071828529
LK accessmedicine.mhmedical.com/content.aspx?aid=1128787984
RD 2024/04/19
AB Hemochromatosis  is  a  disorder  of  iron  storage  that  results  in  increased  intestinal  iron  absorption  with  Fe  deposition  and  damage  to  many  tissues.  The  classic  clinical  constellation  of  hemochromatosis  is  a  pt  presenting  with  bronze  skin,  liver  disease,  diabetes,  arthropathy,  cardiac  conduction  abnormalities,  and  hypogonadism.  Two  major  causes  of  hemochromatosis  exist:  hereditary  (due  to  inheritance  of  mutant  HFE  genes)  and  secondary  iron  overload  (usually  the  result  of  ineffective  erythropoiesis,  such  as  thalassemia  or  sideroblastic  anemia).  HFE  encodes  a  protein  that  is  involved  in  cellular  iron  sensing  and  in  regulating  intestinal  iron  absorption.  HFE  mutations  are  very  common  in  populations  of  Northern  European  origin  (1  in  10  is  a  carrier).  Heterozygotes  are  asymptomatic;  homozygotes  show  a  disease  penetrance  of  ~30%.  There  is  progressive  iron  overload,  with  clinical  manifestations  appearing  after  age  30–40,  typically  earlier  in  men  than  in  women.  Alcoholic  liver  disease  and  chronic  excessive  Fe  ingestion  may  also  be  associated  with  a  moderate  increase  in  hepatic  Fe  and  elevated  body  Fe  stores.