Haemochromatosis - symptoms, causes and treatment of iron storage disease

Hemochromatosis is a hereditary disorder characterized by excessive accumulation of iron in the body, which can have far-reaching effects on health. It is one of the most common inherited diseases in countries with predominantly European populations. The accumulation of iron can impair liver function and, over time, lead to liver problems. Learn more about hemochromatosis, including symptoms, diagnostic methods, treatment options, and potential complications in this article.

Table of Contents

• What is hemochromatosis?

• Types and causes of hemochromatosis

• What are the typical symptoms of hemochromatosis?

• What complications can arise from hemochromatosis?

• How is hemochromatosis diagnosed?

• How is hemochromatosis treated?

• What is the role of lifestyle and diet in hemochromatosis?

What is hemochromatosis?

Hemochromatosis, also known as iron overload disorder, is a genetically determined condition that disrupts the body’s ability to regulate iron absorption and is characterized by excessive iron accumulation in the body.

Iron is an essential mineral that the body needs to produce hemoglobin, a protein in red blood cells responsible for oxygen transport throughout the body (Harvard Health, 2023). In people without this disorder, only the amount of iron required by the body is absorbed in the small intestine. In contrast, individuals with hemochromatosis absorb more iron than needed, leading to accumulation and deposition of iron in various organs, particularly the liver, heart, and pancreas. This condition can lead to potentially serious complications (CDC, 2022). Men are 2 to 3 times more likely to be affected by hemochromatosis than women. However, the disease often goes undetected, as symptoms are non-specific and can be mistaken for a variety of other conditions (Porter & Rawla, 2023).

Types and causes of hemochromatosis

The different forms of hemochromatosis can be classified according to their specific causes and genetic backgrounds. Here are the main types:

• Primary or hereditary hemochromatosis: This is the most common form and is caused by genetic mutations. Most affected individuals have a specific mutation in both copies of the HFE gene, which can be inherited. The condition typically begins in adulthood, and symptoms may appear in men between the ages of 40 and 60 and in women particularly after menopause, when they no longer lose iron through menstruation or pregnancy.

• Secondary or acquired hemochromatosis: This form occurs when excessive iron accumulation is caused by other diseases or conditions, such as repeated blood transfusions, certain types of anemia, or chronic liver disease.

• Juvenile hemochromatosis: This rare genetic form leads to severe iron overload at a young age and can cause serious diseases such as early-onset diabetes and heart disease.

Source: MedlinePlus, 2019; Bacon et al., 2011

What are the typical symptoms of hemochromatosis?

Symptoms of hemochromatosis vary in severity, and most affected individuals experience symptoms only later in life. However, sometimes no symptoms occur at all, and early symptoms are often non-specific, so they are frequently overlooked or discovered only during routine blood tests.

Early symptoms of hemochromatosis include:

• Persistent fatigue

• Difficulty concentrating, mood swings, depression, and anxiety

• Weight loss

• Weakness

• Joint pain, especially in the fingers

• Difficulty achieving or maintaining an erection (erectile dysfunction)

• Irregular or missed menstrual periods

Later, more severe symptoms usually appear when the condition has been untreated for a prolonged period. Organs such as the liver, heart, and pancreas are often affected, and symptoms arise as a result of complications. These include:

• Loss of libido

• Skin darkening or bronzing

• Abdominal pain and swelling

• Jaundice (icterus)

• Excessive thirst and frequent urination

• Severe joint pain and stiffness

• Shortness of breath and chest pain

• Swelling of hands and feet

• Irregular heartbeat

• Shrinking of the testicles

Source: NHS, 2023

What complications can arise from hemochromatosis?

Hemochromatosis is a condition that, without timely diagnosis and treatment, can lead to a number of serious health complications. These complications usually occur when the disease remains untreated for a long time and excess iron accumulates in various organs.

• Liver damage: Excess iron can damage the liver, potentially leading to liver cirrhosis—a condition in which healthy liver tissue is replaced by scar tissue, impairing liver function. This can progress to liver failure or liver cancer. A liver function test can help detect this.

• Heart problems: Excess iron can impair heart function, leading to arrhythmias (irregular heartbeat) and cardiomyopathy, a disease that weakens the heart's pumping ability and can result in heart failure.

• Type 2 diabetes: Excess iron in the pancreas can impair the body’s ability to produce insulin, leading to elevated blood sugar levels and type 2 diabetes. A diabetes test can help determine the risk of type 1 or type 2 diabetes.

• Hormonal disorders: Hemochromatosis can also affect hormone production, causing various hormonal imbalances. In women, this may result in early menopause; in men, it may lead to impotence or testicular shrinkage.

• Skin problems: Some people with hemochromatosis develop bronzing or a grayish discoloration of the skin caused by iron deposits.

• Arthritis: Excess iron can accumulate in the joints, leading to arthritis (inflammatory joint disease), causing joint pain and stiffness.

• Mental health issues: In some cases, hemochromatosis can also cause depression, anxiety, and memory problems.

Source: NHS, 2023, Mayo Clinic, 2023

These complications are serious and can significantly affect a person’s quality of life. Therefore, early detection and treatment of hemochromatosis is crucial to minimize the risk of such complications.

How is hemochromatosis diagnosed?

Diagnosis of hemochromatosis typically begins with a detailed medical history and physical examination. It can be challenging to diagnose because early symptoms are similar to those of other conditions. It’s not uncommon for people with hemochromatosis to show no symptoms other than elevated iron levels in the blood. If a doctor suspects hemochromatosis, specific blood tests are usually ordered.

• Serum transferrin saturation: This test measures the amount of iron bound to the protein transferrin, which transports iron in the blood. Transferrin saturation levels over 45% are considered elevated.

• Serum ferritin: If the transferrin saturation test results are high, the doctor may check serum ferritin levels. Ferritin is a protein found in cells and serves as the primary iron storage protein. Serum ferritin reflects the amount of stored iron in the body.

Additional tests may be suggested to confirm the diagnosis and check for related problems:

• Imaging procedures: MRI is used to assess iron overload in organs, especially the liver, to detect and quantify potential organ damage early.

• Liver function tests: These can help detect liver damage.

• Liver biopsy: If liver damage is suspected, a liver biopsy may be performed. A sample of liver tissue is taken with a fine needle and examined in a lab for the presence of iron and signs of liver damage, especially scarring or cirrhosis.

• Genetic testing: If high iron levels are found, DNA testing for mutations in the HFE gene is recommended. If you are considering genetic testing for hemochromatosis, discuss the pros and cons with your doctor.

Source: Mayo Clinic, 2023

How is hemochromatosis treated?

The treatment of hemochromatosis aims to remove excess iron from the body and prevent or manage organ damage.

The most common method is therapeutic phlebotomy, in which a certain amount of blood is regularly drawn to reduce iron levels in the body. Once blood iron and ferritin levels are normalized through phlebotomy, sessions are reduced to once every 1 to 3 months and eventually limited to 2 to 3 sessions per year. Doctors continue to perform routine blood tests to monitor iron and ferritin levels.

For individuals who require blood transfusions due to specific types of anemia and develop secondary hemochromatosis, phlebotomy is not a suitable method to lower iron levels. In such cases, doctors may prescribe chelation therapy—medications that bind to iron and help eliminate it through urine.

Other treatment options may include a low-iron diet, and for those with existing organ damage, specific treatment of the underlying conditions, such as diabetes management, may be necessary.

Source: NIDDK, 2020

What is the role of lifestyle and diet in hemochromatosis?

For people with hemochromatosis, proper nutrition can play an important role in managing the condition and minimizing the risk of complications. Here are some dietary tips that can help:

• Reduce intake of iron-rich foods: This includes red meat, liver, and iron-fortified cereals. Your body absorbs two to three times more iron from animal sources (heme iron), so it’s especially important to limit meat consumption.

• Avoid consuming vitamin C-rich foods together with iron-rich foods: Vitamin C can increase iron absorption, so avoid combining vitamin C-rich and iron-rich foods.

• Avoid iron-containing supplements: Iron supplements should only be taken if prescribed by a doctor. For people with hemochromatosis, additional iron intake from supplements can be dangerous.

• Drink alcohol sparingly or not at all: Alcohol can increase iron absorption and damage the liver, which is especially problematic for those with hemochromatosis.

• Consume calcium-rich foods: Certain minerals like calcium can inhibit iron absorption and should be included in your diet. Dairy products, leafy green vegetables, and nuts are good calcium sources.

Sources: Nichols, 2020; Cleveland Clinic, 2021

Please note that these dietary tips are general recommendations and may not suit everyone. Every individual is different, and it is important to consult a doctor to create a personalized diet plan.

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Summary

Hemochromatosis is a serious but treatable condition characterized by excessive iron absorption in the body. It is often genetic but can also be caused by other health conditions. Symptoms can vary and are often non-specific, but early diagnosis and treatment can help prevent serious complications and maintain a good quality of life.