Posted by dkwinter

A multi-organ system disease
     Primary (genetic)
          Blood disorders
          Hemolytic anemias
          Parenteral iron overload (many transfusions)
          Increased iron ingestion
     Primary (genetic)
     Hemosiderin deposition 
          ..in the pituitary can lead to hypogonadotropic hypogonadism 
          ..in the joints can cause arthopathy
          ..in the skin can cause hyperpigmentation
     Suspect in patients with newly diagnosed diabetes, hepatomegaly and arthropathy
     Hypogonadism (testicular atrophy, decreased sexual drive)
     Pancreatic endocrine dysfunction (diabetes)
     Cardiac abnormalities
          Dilated or restrictive cardiomyopathy leading to heart failure or various conduction abnormalities
     Pancreatic fibrosis (diabetes)
     Increased skin pigmentation due to melanin and hemosiderin deposition (bronze diabetes)
Labs, screening
     Serum ferritin
     High iron
     High ferritin
     High transferrin saturation
Dx, technical
     Dx is made when total body iron load is estimated to be greater than 5g
     Hemosiderosis is the term used for milder iron overload conditions.
Dx, definitive
     Liver biopsy can be used to confirm the diagnosis, if iron studies are abnormal
     Deferoxime is sometimes used in asymptomatic relatives with genetic hemochromatosis
Complications (in patients with hemochromatosis and cirrhosis)
     Hepatocellular carcinoma
     Diabetes mellitus secondary to pancreatic damage
     Pituitary failure
     Insteased risk of infection with
          Listeria monocytogenes
          Yersinia enterocolitica
          Vibrio vulnificus