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Hemochromatosis


Description

Hemochromatosis is a hereditary disorder in which the small intesting absorbs excess iron. Too much iron is absorbed from an ordinary diet, consequently this condition is sometimes called "iron overload" or "iron storage overload." If untreated, hemochromatosis can damage major organs in the body. The excess iron is stored in glands and muscle, including the live, pancreas and heart.

Hemochromatosis is the most common abnormal gene in the US population and affects 3 in 1000.



Epidemiology

usually age > 40

women older than men since menstruation is protective



Symptoms

increased skin pigmentation , weakness and fatigue, abdominal pain

arthritis is often the first symptom



Signs

skin pigmentation, diabetis symptoms, cardiac failure



Course

normal life expectancy with regular phlebotomy



Complications

hepatic cirrhosis, hepatoma, pituitary impotence

CHF from cardiomyopathy with rapid downhill course

diabetes, usually insulin dependant



Causes

The mechanism for increased iron absorption with excess iron stores is unknown. Iron metabolism appears to be normal, except for higher levels of iron.

Iron overload may be due to thalassemia, sideroblastic anemia, liver disease, excessive iron intake, or chronic transfusion.

Alcohol increases the absorption of iron, and almost half with the disease are alcoholic.

Loss of blood delays the symptoms. Women are often asymptomatic because of menstruation and pregnancy.

genetic, autosomal recessive on chromosome 6



One article proposse that hereditary hemochromatosis and in particular the common HFE C282Y mutation may represent an adaptation to decreased dietary iron in cereal grain-based Neolithic diets. Both homozygous and heterozygous carriers of the HFE C282Y mutation have increased iron stores and therefore possessed an adaptive advantage under Neolithic conditions.

Conventional Labs

Iron studies: Serum ferritin (iron), Total Iron Binding Capacity (TIBC), Urinary iron

Transferrin saturation (serum iron divided by TIBC x 100) greater than 70% is virtually diagnostic of iron overload.

Hyperglycemia, decreased FSH and LH, decreased testosterone, increased SGOT, hypoalbuminemia.

A liver biposy for stainable iron is the standard for diagnosis.

 

 

 

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