Hemochromatosis

Question: A 54 year old black female with sickle cell disease has a liver biopsy for hepatitis C that shows stage II (periportal) fibrosis and grade II inflammation.  The biopsy report mentions moderate amounts of iron deposition.  The majority is found in or near sinusoidal macrophages, while the minority is within the cytoplasm of hepatocytes.  How should you manage this iron overload?

A. order a HFE gene-mutation analysis

B. order a serum iron, ferritin and TIBC

C. order both HFE and iron/ferritin/TIBC

D. send patient for phlebotomy regardless of the above test results

 

Answer: This is a case of secondary iron overload.  First, recognize that the HFE gene mutation for hereditary hemochromatosis is exceedingly rare in the black population.  Second, the distribution of iron in Kupffer cells (the macrophages of the liver) rather than within the hepatocytes tells you that this iron is probably related to her sickle cell disease, and not a genetic disorder of iron homeostasis.

That said, you still have to manage the patient.  What to do?  Iron excess, regardless of the source, is potentially harmful to the liver. Therefore, you should think about ordering an iron panel (to calculate the transferrin saturation and ferritin level).  If both numbers are elevated to pathologic ranges, consider serial phlebotomy or chelation therapy.  Remember, it is not possible to separate the effect of hepatic iron deposition versus that of hepatitis C on hepatic fibrosis.

I would not recommend initiation of phlebotomy without knowing ferritin levels, as this number will help guide your treatment (usually to a goal of < 50).

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