By Disease Name > Hemochromatosis

Hemochromatosis

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AKA “bronze diabetes”
autosomal recessive
presents fifth decade (think of the diagnosis in a 40 year old with unexplained liver disease)

 

pathogenesis:

increased intestinal iron absorption leads to iron overload and deposition in a variety of organs
presumably females are less likely to be affected given natural iron loss with menstruation

 

clinical:

generalized metallic-grey hyperpigmentation  (bronze??)
koilonychia (I thought this was associated with iron deficiency anemia)
hepatomegaly, polyarthritis, IDDM
may precipitate acquired PCT or unmask inherited form
ddx (of generalized hyperpigmentation?):  Addisons disease, Wilsons disease, argyria