Clinical consult: iron overload--hereditary hemochromatosis.
One of the most common genetic causes of iron overload is hereditary hemochromatosis (HHC), a condition characterized by overabsorption of dietary iron from the gastrointestinal tract. This condition can lead to excessive iron accumulation with resulting dysfunction in multiple organs, including the liver, skin, heart,joints, pancreas, and testes. The clinical consequences of HHC if undetected and untreated can be severe and include liver cirrhosis,hepatocellular carcinoma, diabetes mellitus, cardiac arrhythmias and failure, arthritis, and hypogonadism. HHC is one of the most common heritable conditions in white populations of Northern European origin. This article presents a case study of HHC, describing inheritance and genetics, disease characteristics and natural history, diagnosis, differential diagnosis, and management.
Department of Genetics, Case Western Reserve University, University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106, USA. alm14@cwru.edu
Anne L
AL
Matthews
Sarah J
SJ
Grimes
Georgia L
GL
Wiesner
Louise S
LS
Acheson
D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008297:Male; D008875:Middle Aged