Hereditary hemochromatosis is a manic disorder in which individuals absorb slightly more iron than normal. This process occurs over decades. However, tissue damage occurs after significant amounts of iron have been absorbed. In most cases, the individual has absorbed approximately 15-20 grams of iron. It is at this amount of absorbed iron in which patients begin to have tissue damage. Also, it is at this amount of absorbed iron that produces significant organ system damage in individuals.
Hereditary hemochromatosis is thought to occur with equal frequency in both sexes. However, since regular blood loss through normal menses occurs in females, the preponderance of cases is in males. This approximates 8-1 male to female ratio.
Recently, a test has been developed which detects the cellular or genetic abnormalities responsible for many cases of hemochromatosis.
The liver is the first site of iron overload in hereditary hemochromatosis. This is based on absorption of iron by the liver. When food is ingested, it is absorbed in the small intestine. This absorption passes into the veins that then form the portal vein. The portal vein then is directed to the liver. The portal vein then divides into small veins that provide the liver cells with nutrients absorbed from the intestine, thus, the liver is the first site in which iron absorption occurs. Typically, liver function tests are elevated in individuals.
As iron absorption continues, and the ability of the liver to store iron is exceeded, the heart, pancreas, joints and bones, skin and the immune system become affected.
Clinical Symptoms
Many patients do not have any evidence of clinical symptoms. However, right upper quadrant abdominal pain or vague abdominal pain is a common complaint in patients who have had significant iron overload. The pain is usually described as a dull discomfort or vague feeling in the right upper quadrant or area of the abdomen called the epigastrium. The pain is thought to be secondary to distention of the liver capsule that surrounds the liver. As patients are treated for hereditary hemochromatosis, this pain resolves.
In many patients, elevations in the liver function tests are identified during routine exam. Usually, these elevations are approximately 2 times normal. In approximately 50 percent of patients, an enlarged liver and spleen are also identified.
In most cases, elevated irons and abnormal liver function tests are identified earlier.
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