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?):  Addison’s disease, Wilson’s disease, argyria