- What is the nature of this cellular injury?
There is excessive iron accumulation into the hepatocytes, as indicated by the iron stain of the liver tissue. The gross appearance of the liver is dark brown. This is hemochromatosis.
- How do you explain his signs and symptoms?
There is excessive iron accumulation into a variety of tissues, not just the liver, when this disease has progressed for years. Iron in the skin gives a dark color. Iron in the heart leads to heart failure with edema. Iron in the joints leads to arthritis.
- What is the underlying condition?
He and his brother have hereditary hemochromatosis (HHC). About 1 in 10 persons of European ancestry carries the rescessive gene for this disorder, but only about 1:220 is affected. This gene codes for a protein called HFE which is involved with iron absorption in the GI tract. Ordinarly, absorption equals loss, and the body's total iron stores amount to 6 gm. In HHC, there is excessive absorption over decades, and by the 40's for men, body stores exceed 20 gm and symptoms begin.
- Can you explain why the onset of this condition occurs in the 60's in women?
The extra loss of iron with menstruation during reproductive years partially compensates for HHC. In fact, generations ago, this gene may have provided a selective advantage when diets were poor in iron.
- Can you suggest a means of treating this condition?
Phlebotomy. A unit (~pint) of blood contains 250 mg of iron. Over time, the excessive iron stores can be depleted by drawing off RBC's.
