Hemochromatosis – Types, Symptoms, Diagnosis

What Is Hemochromatosis?

Hemochromatosis is a disorder where too much iron builds up in your body. Sometimes it’s called “iron overload.”

Normally, your intestines absorb just the right amount of iron from the foods you eat. But in hemochromatosis, your body absorbs too much, and it has no way to get rid of it. So, your body stores the excess iron in your joints and in organs like your liver, heart, and pancreas. This damages them. If it’s not treated, hemochromatosis can make your organs stop working.

There are two types of this condition — primary and secondary.

Primary hemochromatosis is hereditary, meaning it runs in families. If you get two of the genes that cause it, one from your mother and one from your father, you’ll have a higher risk of getting the disorder.

Secondary hemochromatosis happens because of other conditions you have. These include:

  • Certain kinds of anemia
  • Liver disease
  • Getting a lot of blood transfusions

Symptoms

Up to half of people who have hemochromatosis don’t get any symptoms. In men, symptoms tend to show up between ages 30 and 50. Women often don’t show signs of this condition until they’re over 50 or past menopause. That may be because they lose iron when they get their periods and give birth.

Symptoms of hemochromatosis include:

  • fatigue
  • a low sex drive
  • impotence
  • abdominal pain
  • low energy
  • joint pain
  • Feeling tired
  • Unexplained weight loss
  • Heart flutter
  • Foggy memory

DISEASES THAT CAN DEVELOP IF LEFT UNTREATED

  • Bone and joint: osteoarthritis or osteoporosis in knuckles, ankles, and hips
  • Liver: enlarged liver, cirrhosis, cancer, and liver failure diabetes
  • Skin: abnormal color (bronze, reddish or ashen-gray)
  • Heart: irregular heartbeat, enlarged heart, congestive heart failure
  • Endocrine: diabetes, hypothyroidism, hypogonadism, (infertility, impotence), hormone imbalances
  • Spleen: enlarged spleen

What Causes Hemochromatosis?

The two forms of hemochromatosis are primary and secondary.

Primary Hemochromatosis

Primary hemochromatosis is an inherited genetic disorder that causes you to absorb too much iron from food.

Most types of primary hemochromatosis are caused by mutations. The HFE gene, or hemochromatosis gene, controls how much iron you absorb from food. There are two common mutations of this gene that cause hemochromatosis. They are C282Y and H63D. A person must inherit a copy of the defective gene from each parent to develop this condition. A person who inherits only one copy of a mutated gene is considered a carrier of the condition, but they may never manifest symptoms.

According to the National Heart, Lung, and Blood Institute (NHLBI)Trusted Source, men with the inherited form of this disease typically develop symptoms between the ages of 40 and 60 years old. Women typically develop them after menopause.

The two special subtypes of primary hemochromatosis are juvenile and neonatal.

  • Juvenile hemochromatosis causes symptoms similar to those of primary hemochromatosis, but it typically affects people between the ages of 15 and 30. Additionally, this form is caused by a mutation in the hemojuvelin gene, not the HFE gene.
  • Neonatal hemochromatosis causes a severe buildup of iron in an infant’s liver, sometimes resulting in death.

Secondary Hemochromatosis

Secondary hemochromatosis occurs when a buildup of iron is brought on by other medical conditions, such as:

  • anemia, which occurs when your body doesn’t make enough red blood cells
  • chronic liver disease, which often results from hepatitis C infection or alcoholism
  • frequent blood transfusions
  • kidney dialysis

Diagnosis

It can be tricky for your doctor to diagnose hemochromatosis, because other conditions have the same symptoms. He might want you to get tested if:

  • You’re having symptoms.
  • You have one of the problems listed above.
  • A family member has the disorder.
  • There are some other ways your doctor can figure out if you have it:

Checking your history. He’ll ask about your family and if anyone has hemochromatosis or signs of it. He might also ask about things like arthritis and liver disease, which might mean you or someone in your family has hemochromatosis but doesn’t know it.

Physical exam

Your doctor will examine your body. This involves using a stethoscope to listen to what’s going on inside. He might also tap on different parts of your body.

Blood tests

Two tests can give your doctor a clue about hemochromatosis:

Transferrin saturation: This shows how much iron is stuck to transferrin, a protein that carries iron in your blood.
Serum ferritin:  This test measures the amount of ferritin, a protein that stores iron, in your blood.
If either of these shows you have more iron than you should, your doctor might order a third test to see if you have a gene that causes hemochromatosis.

Liver biopsy

Your doctor will take a small piece of your liver. He’ll look at it under a microscope to see if there’s any liver damage.

MRI

This is a scan that uses magnets and radio waves to take a picture of your organs.

Treatment

If you have primary hemochromatosis, doctors treat it by removing blood from your body on a regular basis. It’s a lot like donating blood. Your doctor will insert a needle into a vein in your arm or leg. The blood flows through the needle and into a tube that’s attached to a bag.

The goal is to remove some of your blood so that your iron levels return to normal. This could take up to a year or more. Blood removal is divided into two parts: initial treatment and maintenance treatment.

  • Initial treatment: You’ll visit your doctor’s office or a hospital once or twice a week to have your blood drawn. You may have up to a pint taken at a time.
  • Maintenance treatment:  Once your blood iron levels have gone back to normal, you’ll still have to have to have blood taken, but not as often. It’ll be based on how fast iron builds back up in your body.

What Complications Are Associated with Hemochromatosis?

Most complications arise in the organs storing excess iron. This damage occurs over time. It tends to affect your:

  • liver
  • pancreas
  • heart
  • skin

The following are examples of what kind of damage can occur:

  • Liver damage can cause cirrhosis, which is permanent scarring of your liver.
  • Pancreatic damage can cause changes in your insulin levels, leading to diabetes.
  • Circulation problems may lead to heart failure.
  • Iron buildup in your heart can lead to irregular heart rhythm.
  • Excess iron can cause your skin to turn bronze or gray.

Your risk of complications can be reduced if treatment is started as soon as you develop hemochromatosis symptoms. If you have hemochromatosis, you should avoid:

  • iron supplements
  • vitamin C supplements, which increase iron absorption
  • alcohol