Hemochromatosis

Hemochromatosis, also known as iron overload, is a condition in which the body absorbs an excessive amount of iron from the food we eat. Extra iron is stored in the organs, especially the liver, heart, and pancreas. Too much iron can cause life-threatening diseases such as diabetes, heart problems, and liver disease. The hemochromatosis-causing genes are inherited, although only a small proportion of those who carry the genes develop severe symptoms. Hereditary hemochromatosis symptoms usually happen in middle age.

Regular blood removal from the body is done as part of the treatment. This treatment lowers iron levels because a significant portion of the body's iron is carried by red blood cells.

Symptoms

Hereditary hemochromatosis can affect persons who never experience any symptoms. Early warning signs and symptoms of various prevalent conditions may overlap. Some warning signs and symptoms include:

Abdominal pain
Joint pain
Heart failure
Weakness
Fatigue
Diabetes
Liver failure
Bronze or gray skin color
Impotence
Memory fog

Hereditary hemochromatosis is present at birth. However, most people do not develop signs and symptoms until later in life, usually around the age of 40 in men and 60 in women. Women are more likely to have symptoms after menopause when they no longer lose iron through menstruation and pregnancy.

When to see a doctor?

Consult the doctor if you have any hereditary hemochromatosis symptoms. If you have any family members with hemochromatosis, speak with the doctor about genetic tests to determine whether you inherited the gene that raises the risk of hemochromatosis.

Causes

Hemochromatosis is classified into two categories, each with its own reasons. The most common cause is an inherited genetic change. Primary hemochromatosis, hereditary hemochromatosis, or classical hemochromatosis are all names for this condition. Medical treatments or other medical issues cause iron excess in secondary hemochromatosis.

Anemia (low amount of red blood cells)
Blood transfusions
Iron pills or injections
Kidney dialysis over a long time
Liver disease, such as hepatitis C infection or fatty liver disease

Risk factors

Here is the following factors can increase the risk of hereditary hemochromatosis:

Having two copies of a mutated HFE gene

This is the leading cause of hereditary hemochromatosis.

Family history

People are more likely to develop hemochromatosis if they have a first-degree family (parent or sibling) with the disease.

Complications

Untreated, hereditary hemochromatosis can cause various health issues, especially in the joints and organs where extra iron is deposited, such as the liver, pancreas, and heart. Possible complications include:

Liver problems

Cirrhosis, or permanent scarring of the liver, is just one of the problems that could occur. Cirrhosis increases the chances of developing liver cancer and other potentially fatal problems.

Heart problems

Excess iron in your heart impairs its ability to circulate enough blood to meet the body's needs. This is referred to as congestive heart failure. Hemochromatosis can also induce irregular heartbeats (arrhythmias).

Reproductive problems

Excess iron can cause erectile dysfunction (impotence), lack of intercourse drive in men, and menstrual cycle absence in women.

Skin color changes

Iron deposits in skin cells can cause the skin to appear bronze or grey in color.

Diagnosis

Hereditary hemochromatosis is often difficult to diagnose. Early symptoms like stiff joints and fatigue could be caused by something other than hemochromatosis.

Many people with the condition have no symptoms other than high iron levels in their blood. Hemochromatosis can be detected through abnormal blood tests performed for other reasons or by testing the families of those who have the condition.

Blood tests

The two most important tests for detecting iron excess are:

Serum transferrin saturation: This test determines the quantity of iron linked to a protein (transferrin) in the blood. Saturation levels of transferrin greater than 45% are considered excessive.
Serum ferritin: This test can determine how much iron is stored in the liver. If the serum transferrin saturation test results are higher than expected, the doctor will evaluate the serum ferritin.
Because several other conditions can cause increased ferritin, both blood tests are usually abnormal in patients with this disorder and are best administered after patients have fasted. Elevations in one or more of these iron blood tests can be detected in various disorders. For the most reliable results, the tests may need to be repeated.

Additional testing

The doctor may recommend more testing to confirm the diagnosis:

Liver function tests: These tests can help in the detection of liver disease.
MRI: An MRI is a quick and painless approach to determine the amount of iron overload in the liver.
Testing for gene mutations: If people have excessive levels of iron in the blood, they should get their DNA tested for mutations in the HFE gene.
Removing the sample of liver tissue for testing (liver biopsy): If liver damage is suspected, the doctor may extract a sample of liver tissue and the sample is sent to a laboratory to be tested for iron and liver disease, especially scarring or cirrhosis. Bruising, bleeding, and infection are among the risks of a biopsy.

Treatment

Dietary changes and other treatments can help relieve hemochromatosis symptoms. They can also help prevent or delay additional organ damage:

Changes to your diet

The doctor would most likely advise avoiding iron supplements. One should also avoid foods high in iron and limit the intake of vitamin C. Limit alcohol consumption because it is bad for the liver.

Iron chelation therapy

This medication eliminates excess iron from the body. It is administered orally at home or injected into the bloodstream by a healthcare provider.

Therapeutic phlebotomy

This procedure removes blood and the iron it contains from the body using a needle and tube. Because treatment must be continued on a regular basis, people will have regular blood tests to evaluate iron levels.

If another ailment causes hemochromatosis, people may also require therapy for it. In addition, healthcare providers may advise treating any hemochromatosis-related issues.