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| Follow-up
of Hemochromatosis Homozygotes |
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| 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.
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- 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.
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- 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.
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- 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.
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- Non-homozygotes: The above is probably equally applicable to
anyone demonstrated to be iron-overloaded, whether with known-positive
gene marker or not.
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- 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.
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References:
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Shari Taylor, MD, Memphis hepatopathologist...December
2003 e-mail to Dr. Shaw
(posted 3 February
2004) |
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1999 - 2006, all rights reserved, Pathology Associates Of Lexington,
P.A. |
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