Hemochromatosis

I am a 59 year old female who is homozygous for the hemochromatosis mutation Cys282Tyr.  

The results of my recent liver panel were:
Iron  209
TIBC  259
Transferrin  181
Ferritin  335

Liver enzymes were essentially normal except for an alk phos of 133.

My Internist is not inclined to do any further testing to see if I'm depositing iron in my liver.  Should I be concerned enough about the elevated iron/low TIBC results to seek a second opinion?

Since this is a genetic disease, I should probably add that my father died of liver failure, and my brother - also homozygous for hemochromatosis - has iron deposits in his liver (but not pancreas) that showed up on an MRI.

I am unsure whether to push for an MRI as well now, or wait until there is a significant change in the liver panel.

[Kevin Pho, MD]

MRI and CT scan is not accurate enough to determine if there are iron deposits in the liver.

If there is suspicion for iron overload, a liver biopsy would be the most comprehensive test.

Measurement of hepatic iron concentration as determined by magnetic susceptometry using a Superconducting Quantum Interference Device (SQUID) yields results that are quantitatively equivalent to those obtained by chemical analysis of liver biopsy tissue. However, because of their complexity, expense, and requirement for liquid helium cooling, very few instruments are available for clinical use at this time.

You may want to discuss these options with your personal physician.

Followup with your personal physician is essential.

This answer is not intended as and does not substitute for medical advice - the information presented is for patient education only. Please see your personal physician for further evaluation of your individual case.

Thanks,
Kevin, M.D.

[kevinmd]

Bibliography:
Schrier et al.  Pathophysiology and diagnosis of iron overload syndromes.  UptoDate, 2004.