Pathology Associates Of Lexington, P.A.
Pathology Associates Of Lexington, P.A.
Pathology Associates Of Lexington, P.A.
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        Follow-up of Hemochromatosis Homozygotes
Some of our doctors have requested our opinion as to whether liver biopsy is indicated in systemic iron over-load conditions.
  • Liver as surrogate: Until there is heavy hepatic iron deposition, organ damage elsewhere is less likely.
  • Liver Biopsy: This is the only way to directly "base-line" or "stage" the condition of the liver upon diagnosis; but, an authoritative source1 indicates that there is a national move away from "reflex" liver biopsies unless, (1) serum ferritin >1000 ng/ml, (2) elevated transaminases, (3) hepatomegaly, or age >40 years at time of diagnosis.  Not sure whether wise or not.
  • Hepatotoxic medications: If a biopsy shows an undamaged liver, and regular phlebotomy is undertaken, then there is less concern in the decision for medication choices (for other health reasons) if the medications have the potential for hepatotoxicity.
  • Genetic Screening: Unless there is an overriding need to determine genetic status, most/all authorities don't recommend genetic studies for case finding because it is known that 10-15% of homozygotes do not develop clinical iron overload (incomplete penetrance").  And, a similar percentage of patients with clinically toxic iron overload have negative gene test results. 
  • Non-homozygotes: The above is probably equally applicable to anyone demonstrated to be iron-overloaded, whether with known-positive gene marker or not.
  • Phlebotomy: Since Jan. 1988, LMC (791-2409) is the only S.C. hospital-based program to handle siderosis phlebotomies for clinical doctors...maintain phlebotomy schedules, monitor therapy, and forwarding of flow-chart updates to referring physician. 


  1. Shari Taylor, MD, Memphis hepatopathologist...December 2003 e-mail to Dr. Shaw

(posted 3 February 2004)

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