Hemochromatosis

• Facts:
  Autosomal recessive disease caused by hyperabsorption of iron (Ch 6. C282Y gene mutation)
  
  Hemosiderin deposits in liver, pancreas, heart, adrenals, pituitary, and kidneys
  
• History / PE:
  DM (polydipsia, polyuria)
  Hypogonadism (testicular atrophy)
  Joint pain
  Cardiac dysfunction (conduction block)
  Bronze skin pigmentation
  Hepatomegaly
  
• Diagnosis:
  Increased serum iron
  Glucose intolerance
  Liver biopsy
• Treatment:
  Weekly phlebotomy
  Deferoxamine
• Complications:
  Cirrhosis
  Hepatocellular carcinoma
  Impotence
  Cardiomegaly leading to CHF
• See Also:
  WIlson's disease
• Associated With:
  Increased risk of infection with Listeria monocytogenes
  
  Iron overload also a risk factor for infection with Yersinia enterocolitica and septicemia with Vibrio vulnificus