Definition

Hemochromatosis is a condition in which the body absorbs an excessive amount of iron from the food consumed. This surplus iron is stored in organs, particularly the liver, heart, and pancreas. Accumulation of too much iron can lead to life-threatening conditions such as liver disease, heart disease, and diabetes.

There are various types of hemochromatosis, with the most common type being caused by inherited gene mutations passed down through families. However, only a small percentage of individuals with these genes experience serious problems, with symptoms typically manifesting in middle age.

Treatment involves regularly removing blood from the body since most of the body's iron is contained in red blood cells. This treatment helps lower iron levels.

Iron is a mineral found in certain foods. It is necessary for various bodily functions, such as aiding hemoglobin in red blood cells in carrying oxygen, producing red blood cells, and synthesizing certain hormones.

In normal circumstances, the intestines absorb the appropriate amount of iron from consumed food. However, in hemochromatosis, the body absorbs excess iron and stores it in organs, particularly the heart, liver, and pancreas. Excessive iron can be toxic, leading to complications such as arrhythmia (irregular heartbeat), heart failure, liver cirrhosis, liver enlargement, liver cancer, liver failure, arthritis (joint damage), diabetes, spleen, adrenal glands, pituitary gland, gallbladder, or thyroid issues, reproductive system problems such as erectile dysfunction in men and early menopause in women, and skin discoloration. If left untreated, hemochromatosis can be fatal.

Read more: Heart Failure - Definition, Causes, Symptoms, and Management 

Causes

There are two types of hemochromatosis, each with different causes. The most common cause is inherited genetic mutations, which result in primary hemochromatosis, also known as hereditary or classic hemochromatosis.

In primary hemochromatosis, DNA abnormalities inherited from both parents cause the body to absorb too much iron.

On the other hand, secondary hemochromatosis occurs due to medical treatments or other medical conditions leading to excess iron accumulation. Examples include anemia (a deficiency of red blood cells), blood transfusions, iron supplements or injections, kidney dialysis or prolonged blood cleansing, and liver diseases such as hepatitis C infection or fatty liver disease.

Risk factor

Men are at a higher risk of developing hemochromatosis compared to women. Women naturally lose iron through menstruation or childbirth, and their bodies store less iron overall. Additionally, hemochromatosis tends to occur more frequently in older individuals, as iron toxicity typically takes years to develop.

Apart from alcohol abuse and family history, several diseases increase the likelihood of developing hemochromatosis. These include arthritis, diabetes, heart attacks, erectile dysfunction, and liver disease.

Symptoms

Some individuals with hemochromatosis may not display symptoms, and early symptoms often resemble those of other common conditions.

Symptoms can include:

• Joint pain
• Abdominal pain
• Fatigue
• Weakness
• Diabetes
• Loss of libido
• Heart failure
• Liver failure
• Bronze or gray skin pigmentation
• Foggy memory

Hemochromatosis typically develops at birth, but many individuals do not experience symptoms until later in life. Symptoms often appear after the age of 40 in men and after the age of 60 in women. Women are more likely to develop symptoms after menopause, as they no longer lose iron through menstruation and pregnancy.

Diagnosis

Diagnosing hemochromatosis involves a medical interview, physical examination, and various diagnostic tests.

During the medical interview, the doctor will gather information about the patient's main complaints, associated symptoms, past medical history, family medical history, history of specific medication use, and daily activities.

Next, a physical examination is conducted, which includes assessing vital signs such as blood pressure, body temperature, respiratory rate, and pulse. The doctor will then perform a comprehensive head-to-toe examination to inspect internal organs.

Additional diagnostic tests may be ordered, including blood laboratory tests to assess iron levels in the blood, genetic tests to determine if the hemochromatosis is inherited, liver biopsy (a procedure to obtain a small sample of liver tissue for microscopic examination), and MRI (magnetic resonance imaging) to obtain detailed images of the organs.

Management

To alleviate symptoms of hemochromatosis and prevent or delay further organ damage, changes in diet and other treatments may be recommended:

• Dietary changes: Your doctor may advise avoiding iron supplements and limiting your intake of foods high in iron. Additionally, limiting your vitamin C intake and reducing your alcohol consumption, which can be detrimental to the liver, are important considerations.
• Iron chelation therapy involves medication that removes excess iron from the body. It can be taken orally at home or intravenously by a healthcare provider.
• Therapeutic phlebotomy: This procedure involves removing blood and the iron it contains using a needle and tube. It helps reduce iron levels in the body.

Treatment must be repeated regularly, so periodic blood tests to monitor iron levels are necessary. If another condition is causing hemochromatosis, treatment may also be required.

Complications

If left untreated, hemochromatosis can lead to various complications that primarily affect the joints and organs due to the accumulation of excess iron. These complications may include:

• Cirrhosis: Permanent scarring of the liver tissue, which can increase the risk of liver cancer and other life-threatening complications.
• Diabetes: Damage to the pancreas caused by excess iron can lead to diabetes.
• Heart problems: Excess iron accumulation in the heart can impair its ability to pump enough blood, leading to congestive heart failure. Hemochromatosis can also cause abnormal heart rhythms, known as arrhythmias.
• Reproductive issues: In men, excess iron can cause erectile dysfunction and loss of libido, while in women, it may result in the absence of menstrual cycles.
• Changes in skin color: Iron accumulation in skin cells can cause changes in skin pigmentation, resulting in a bronze or gray appearance.

Prevention

While hemochromatosis cannot be prevented, early detection and management can help control iron levels and prevent complications. Seeking medical assistance for diagnosis and treatment allows healthcare providers to intervene early, reducing the risk of complications associated with the condition.

When to see a doctor?

While hemochromatosis cannot be prevented, early detection and management can help control iron levels and prevent complications. Seeking medical assistance for diagnosis and treatment allows healthcare providers to intervene early, reducing the risk of complications associated with the condition.

Looking for more information about other diseases? Click here!