Conn’s Current Therapy
In a study of 410 homozygotes from Canada and France, 22% had cirrhosis of
the liver at the time of diagnosis. It seems that there are other factors other
than iron overload that contribute to cirrhosis. The effect of iron depletion
therapy has usually stabilized liver disease. The other common clinical manifestations
are arthralgias, pigmentation, diabetes, congestive heart failure, impotence, and fatigue.
Rate of 1/200 in whites. It usually goes undiagnosed.
An elevated transferring saturation has a sensitivity of greater
than 90%. The unsaturated iron-binding capacity is a one-step colorimetric assay. It is an inexpensive test compared with transferring saturation. The relationship between serum ferritin and total body iron stores has been clearly established by strong
correlations with hepatic iron concentration and amount of iron removed by venesection.
However, ferritin can be elevated by secondary to chronic inflammation and histolytic neoplasm. Other causes include alcoholic liver disease, chronic viral hepatitis, and nonalcoholic steatohepatitis. Patients with cirrhosis have a 5.5-fold relative risk of death compared with noncirrhotic
hemochromatosis patients. .
A first step is the measure of transferring saturation,
the protein which chemically binds to iron and carries it through the blood to the liver, spleen and bone marrow. Saturation level above 45% is probably a good cutoff to determine whether a patient is a candidate for
further testing. Carriers of the disease may never manifest the symptoms.
Standard Diagnosis measures for hemochromatosis, serum transferring
saturation and serum ferritin tests is recommended if the patient has a parent, child or sibling with the disease, or have
any of the following symptoms are signs: joint disease, severe fatigue, heart
disease, elevated liver enzymes, impotence, diabetes.
Abnormal iron regulatory genes do not reduce their absorption of
iron in response to increased iron levels in the body. Stored mainly as ferritin,
it is deposited in organs as hemosiderin, and this is toxic to tissue, probably at least partially by inducing oxidative stress. Iron is a pro-oxidant; thus hemochromatosis shares common symptomology with other
pro-oxidant diseases such as Wilson’s disease, chronic manganese poisoning, and hyperuricemic syndrome in Dalmatian
dogs. In hemochromatosis the enterocyte in the small bowels are somehow constantly
responds as though there is an iron shortage, and as a consequence, over-express the necessary channel proteins resulting
in unnecessary iron absorption. Iron is stored in the liver, heart and pancreas. Nearly one-third of people with hemochromatosis and cirrhosis eventually develop liver