Football Saved my Life! A Synopsis of "Hereditary Hemochromatosis" from American Family Physician

Hereditary Hemochromatosis

BRIAN K. CROWNOVER, MD, and CARLTON J. COVEY, MD, Nellis Family Medicine Residency, Nellis Air Force Base, Nevada

Am Fam Physician. 2013 Feb 1;87(3):183-190.

P.S I hope you enjoy my little football side note I heard on TV while waiting for the Super Bowl to start last year. 

     Hemochromatosis is the accumulation of iron in the body. This is due to an autosomal recessive disorder of the HFE gene, which regulates hepicidin through the C282Y protein  Normally, when there is too much iron in the body, the liver secretes hepicidin, which lowers iron absorption in the intestine and decreases iron release from macrophages. Only 10% of homozygous patients are symptomatic.
     The classic triad for the disease is cirrhosis, diabetes, and bronze skin. Common symptoms are weakness, lethargy, impotence, and arthralgia. These are very general features,  Once lab work is done, an abnormal liver function test should prompt an evaluation hemochromatosis if the hisotry and physical did not tip you off. A serum ferritin and transferrin saturation should be ordered. If the transferrin saturation is greater than 45% or the serum ferritin level is greater than 300 ng/mL in men or 200 ng/mL in women, further testing for the HFE gene should be done. At this point the patient may be referred to a gastroenterologist if the patient is heterozygous for the gene or if the ferritin level is greater than 1000 ng/mL.
     First line treatment for hemochromatosis is phlebotomy. Each donation of 500 ml whole blood removes 200-250 mg of iron and lowers serum ferritin by 30 ng/ml. (this reminds me of a story I heard about a Packers fan who would donate his blood every month, for decades,  to pay for his season tickets. He later found out he had hemochromatosis, so the Packers really saved his life!). Phlebotomy should be withheld if the hemoglobin is at or below 12.5 g/L. Most of the signs and symptoms should resolve from the treatment. Chelation therapy could be done as a second line treatment. Dietary restriction is not necessary and iron supplementation (as well as vitamin C) is not recommended.
     Iron avidity is a desire or craving of iron, which is a complication of phlebotomy, and due to overcorrection of the iron overload. According to the lab work, serum ferritin will be low/normal, and the transferrin saturation will be elevated. Oddly, this is treated with iron supplementation (when there was elevated transferrin saturation in hemochromatosis, we tried to reduce the iron, and now we supplement the iron with the same lab value?!?!) Iron avidity could be due to a GI bleed causing anemia, or the avidity may resolve spontaneously.
    If a patient is found to have hemochromatosis and cirrhosis, a screening ultrasound should be performed 1-2 times a year. If a lesion less than 1 cm is found, increase the screening to every 3 -6 months. If it is larger than 1 cm, refer to a gastroenterologist for CT and biopsy.