FABROA, MARIA JESSICA ERLINDA P.

BSN III
HEREDITARY HEMOCHROMATOSIS NARRATIVE PATHOPHYSIOLOGY
Hereditary hemochromatosis is a genetic condition in which excess iron is absorbed
from the GI tract. Normally, the GI tract absorbs 1 to 2 mg of iron daily, but in those with
hereditary hemochromatosis, this rate increases significantly. The genetic defect associated
with hemochromatosis is most commonly seen as a specific mutation (C282Y homozygosity) of
the HFE gene. Mutant HFE results in decrease of Hepcidin release. Hepcidin prevents iron
release from enterocytes and macrophages, so the decrease of Hepcidin in the body increases
serum Fe and iron absorption from the gastro intestinal tract. The excess iron is deposited in
various organs, particularly the liver, skin, and pancreas; and less frequently, in the heart,
testes, and thyroid. Eventually, the affected organs become dysfunctional and later may cause
death.
Often there is no evidence of tissue damage until middle age, because the accumulation
of iron in body organs occurs gradually. The skin may appear hyper pigmented from melanin
deposits or appear bronze in color. Cardiac dysrhythmias and cardiomyopathy can occur, with
resulting dyspnea and edema. Endocrine dysfunction is manifested as hypothyroidism,
diabetes, and hypogonadism (e.g. testicular atrophy, diminished libido, and impotence).
Cirrhosis is common in later stages of the disease, shortens life expectancy, and is a risk factor
for hepatocellular carcinoma.
Hemochromatosis is a condition that is chronic, but very treatable. An individual will live
a normal, healthy life without complications when it is diagnosed early and care starts before
organ damage has commenced.

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