A multi-organ system disease
Etiology
Primary (genetic)
Secondary
Blood disorders
Hemolytic anemias
Thalassemias
Parenteral iron overload (many transfusions)
Increased iron ingestion
Pathophysiology
Primary (genetic)
Hemosiderin deposition
..in the pituitary can lead to hypogonadotropic hypogonadism
..in the joints can cause arthopathy
..in the skin can cause hyperpigmentation
Hx
Suspect in patients with newly diagnosed diabetes, hepatomegaly and arthropathy
Sx
Anhidrosis
Hypogonadism (testicular atrophy, decreased sexual drive)
Arthopahy
Pancreatic endocrine dysfunction (diabetes)
Hepatomegaly
Cirrhosis
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
Labs
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
Tx
Phlebotomy
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
Cardiomegaly
Arrhythmias
Pituitary failure
Arthritis
Insteased risk of infection with
Listeria monocytogenes
Yersinia enterocolitica
Vibrio vulnificus
