Treatment

Your attending physician confesses to you that yes, indeed, the patient has a history of hereditary hyperferritinaemia cataract syndrome, and that she has been followed periodically for her high ferritin level. Besides her cataracts, she has no active medical problems. Based on what you know from the patient’s visit, would you treat with iron supplementation?

a
Yes
The data are compelling for iron deficiency even without the zinc protoporphyrin result. The risks-benefits likely warrant a trial of iron supplementation.
b
No

The patient received intravenous iron (Feraheme, ferumoxytol). The response is shown in the following table:

DateHb (g/dL)MCV (fL)MCHC (g/dL)
3 weeks later14.47729
Day you saw patient10.77027.7

Is this response consistent with iron deficiency?

a
Yes
b
No

Her iron indices 3 weeks following her visit showed:

Note how the TIBC has decreased, the TSAT has increased (but to high levels as seen in iron overload conditions), while the ferritin continues to “march to its own tune”.

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