Hemochromatosis: Iron Overload Symptoms, Ferritin Testing and Next Steps

What it involves

MedlinePlus explains that hemochromatosis is a disease in which too much iron builds up in the body. The body absorbs more iron than it needs and has no natural way to get rid of the extra, so it is stored in tissues, especially the liver, heart and pancreas, where it can damage organs. Without treatment it can cause organs to fail.

Who this is for

• Adults whose blood work showed a high ferritin or iron level and who want to know what it means.
• Patients with a parent, brother or sister who has hemochromatosis.
• People with joint pain, fatigue or belly pain that has no clear cause.
• Anyone with liver disease, anemia or frequent blood transfusions who has been told iron may be high.

What to expect

• Questions about symptoms, family history, alcohol use, supplements and past transfusions
• An exam that looks at the liver area, joints and skin
• Iron tests including a ferritin blood test, which the practice offers as part of blood work
• A referral to a liver or blood specialist when levels are high or organ damage is suspected

What it can feel like

Early iron overload often causes nothing you can point to. MedlinePlus lists joint pain, fatigue, general weakness, weight loss and stomach pain. The ferritin test page adds that joint pain tends to settle in the knees or hands, and that some people notice a loss of interest in sex or erectile dysfunction, or skin that looks gray, metallic or bronze. Symptoms tend to worsen over time. Fatigue has many causes, covered in the fatigue guide, and aching joints in the swollen joints guide.

Primary and secondary hemochromatosis

There are two types, according to MedlinePlus. Primary hemochromatosis is inherited, so a family history matters. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease or blood transfusions. Telling the two apart helps a provider decide what to look for next. Low iron is a different problem altogether, explained in the low iron anemia guide, and a provider checks iron because both too little and too much can cause tiredness.

Why extra iron matters

Your body needs iron, but MedlinePlus points out that too much of it is toxic. The liver, heart and pancreas store most of the extra, and damage there can show up as liver disease, heart problems or blood sugar trouble. The fatty liver guide and the cirrhosis guide describe liver conditions that can overlap, and yellow skin or eyes are covered in the jaundice guide. Heart muscle problems are described in the cardiomyopathy guide, and blood sugar in the diabetes management page.

How it is diagnosed

MedlinePlus says a doctor diagnoses hemochromatosis from your medical and family histories, a physical exam and test results. Iron tests are blood tests that can measure serum iron, transferrin, total iron-binding capacity and ferritin, the protein that stores iron. The ferritin page notes that your provider may ask you to fast for 12 hours first. High ferritin can have other causes, including liver disease, so one result is rarely the full answer. The practice offers blood work, and the liver function tests page explains related numbers.

Treatment

MedlinePlus lists three kinds of treatment: removing blood, and with it iron, from your body, medicines, and changes in diet. Because the best plan depends on your test results and on whether the liver, heart or pancreas is affected, a provider usually works with a liver or blood specialist, who is reached by referral rather than in this office. Ask before taking any supplement or multivitamin that contains iron, since the test pages note that many multivitamin and mineral products do. Never change a medicine on your own.

When to be seen

Make an appointment when a blood test shows high iron or ferritin, when joint pain in the hands or knees, fatigue and belly pain keep returning, or when a close relative has been diagnosed. Be seen soon for yellow skin or eyes, a swollen belly, or new tiredness with shortness of breath. Call 911 or go to the ER for chest pain, fainting, a very fast or irregular heartbeat, or vomiting blood. Belly pain on its own is discussed in the abdominal pain guide.

Sources

• MedlinePlus: Hemochromatosis
• MedlinePlus: Ferritin Blood Test
• MedlinePlus: Iron Tests