5 questions about living with hemochromatosis

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5 questions about living with hemochromatosis

DR. KEVIN C. WESTRA Position: Gastroenterologist Company: burg Gastroenterology LTD Years in field: 15

Q: What is hemochromatosis, and who is affected by it?

A: Hemochromatosis is a condition that causes excess absorption of iron from the digestive tract. Over time, the excess iron accumulates in tissues throughout the body, leading to iron overload. Hemochromatosis is usually inherited.

In a study of over 99,000 participants in North America, the following racial prevalences were noted to have the hemochromatosis genetic defect:

White — 0.44 percent

Native American — 0.11 percent

Hispanic — 0.027 percent

Black — 0.014 percent

Pacific Islander — 0.012 percent

Asian — 0.00004 percent

Q: What role does genetics play in hemochromatosis?

A: Central to the process of iron overload is a gene called HFE. Mutations in this gene cause excessive amounts of iron to be absorbed. The most common mutation is referred to as C282Y. Hemochromatosis is most often seen in people who have two copies of this mutation (one inherited from their mother and the other from their father). However, other mutations causing hemochromatosis continue to be discovered. Plus, we do not know why a proportion of people with two copies of the C282Y mutation do not develop iron overload.

Clinicians usually recommend that first-degree relatives (parents, siblings and children) of people with hemochromatosis undergo screening. The primary goal of screening is to detect hemochromatosis before there are symptoms or complications. The optimal age for screening is between 18 and 30 years; during this time, the condition can be detected, but serious tissue damage has not yet occurred.

Q: How is it diagnosed?

A: It is very important to diagnose hemochromatosis early in the course of the disease because early treatment can prevent complications. Three blood tests are obtained to determine the iron stores in the body:

Iron levels — Most people with hemochromatosis have elevated iron levels.

Transferrin saturation — Transferrin is a protein that binds and transports iron around the body. With higher levels of iron, more of the transferrin is carrying iron. Transferrin saturation rates of 45 percent should be evaluated.

Ferritin levels — Ferritin reflects the body’s iron stores. Blood ferritin levels increase when the body’s iron stores increase.

Genetic blood tests can be used to reveal the genetic defects associated with hemochromatosis. Liver biopsy will help confirm the diagnosis and identify the amount of scarring, if any, in the liver.

Q: How is it treated, and what are the risks if it goes untreated?

A: Treatment of hemochromatosis requires removal of excess iron from the body, which is accomplished by periodically removing blood (phlebotomy). Over time, phlebotomy will return iron stores back to normal levels. Additionally, iron can be removed by a drug (deferoxamine) that binds tightly to iron and removes it from the body. Phlebotomy is very effective and deferoxamine is seldom needed. Liver transplantation is an option for patients with advanced liver disease at the time of diagnosis.

Hemochromatosis, if not treated, is widely known to cause severe scarring of the liver, or cirrhosis, due to accumulation of the iron. However, iron can accumulate in many other organs within the body. Accumulation of iron in the pancreas can lead to diabetes. Iron overload in the heart can lead to abnormal electrical conduction and heart failure. Other physical changes and conditions that occur include darkening of the skin, joint pain, thyroid disease and sexual dysfunction.

Q: Does it require a special diet?

A: A normal balanced diet is usually sufficient. Patients should not feel they need to avoid foods high in iron such as meats, clams or black beans. For those patients undergoing phlebotomy, excess iron in their diet is far exceeded by the removal of iron by the phlebotomy. However, patients should avoid dietary supplements that contain iron.

Regular consumption of alcohol should be avoided for several reasons:

Alcohol can increase iron absorption.

Some red wines contain a relatively high concentration of iron.

Daily consumption of alcohol significantly increases the risk of cirrhosis and liver cancer and at a younger age than those with lesser alcohol consumption.

Avoid vitamin C supplements, which can promote iron absorption; however, there is no reason to avoid fresh fruits with high levels of vitamin C. Also, avoid uncooked seafood due to infection risk.

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