Introduction:
Iron is a vital mineral that is present in certain foods. Our body requires iron to help hemoglobin carry oxygen throughout the body and in the production of red blood cells and certain hormones. Generally, our intestines absorb the required amount of iron from the food we take. When there is excessive accumulation of iron, it results in a condition known as iron overload or hemochromatosis. So when too much iron is loaded into the body, it can be toxic, leading to various serious conditions like arrhythmia, heart failure, cirrhosis, liver cancer, or liver failure.
What Is Hemochromatosis?
Hemochromatosis refers to a condition in which there is excessive accumulation of iron from the food you eat. This excess iron is stored in the different parts of your body, particularly the liver, heart, and pancreas. Excessive accumulation of iron can be a life-threatening condition. The genes that are responsible for causing this condition are usually inherited, but only a few of them with these genes ever show any symptoms. The signs and symptoms of hemochromatosis develop in midlife.
What Are the Different Types of Hemochromatosis?
There are four different types of hemochromatosis based on the age of onset and other factors like genetic cause and the mode of inheritance.
-
Type 1: Type 1 is the most common type of hemochromatosis.
-
Type 2: Type 2 hemochromatosis is otherwise known as a juvenile-onset disorder as the symptoms develop during childhood. As the individual reaches their 20s, the iron accumulation causes decreased or no secretion of sex hormones. The affected females have their normal menstruation, but the menses stops early after a few years, whereas the affected males may experience delayed puberty or other symptoms that are related to decreased production of sex hormones. When type 2 is left unnoticed or untreated, the individuals can develop fatal heart diseases in their 30s.
-
Type 3: People affected with type 3 hemochromatosis develop symptoms before the age of 30. This type is intermediate between type 1 and type 2.
-
Type 4: Type 4 hemochromatosis is otherwise known as ferroportin disease. This type of hemochromatosis begins in adulthood between 40 to 60 years of age.
Type 1 and type 4 begin in adulthood, and women usually develop the symptoms after menopause.
How Does Hemochromatosis Develop?
Hemochromatosis develops due to mutations in the genes. Type 1 hemochromatosis is caused due to mutations in the HFE gene, and mutation in the SLC40A1 gene results in type 4 hemochromatosis.
The mutations in these genes affect the control of the intestine’s absorption of iron from the foods during digestion and distribution of iron to other parts of the body resulting in the accumulation of iron in the tissues and different organs of the body, disrupting the normal functions of the body.
In case you inherit two abnormal genes, then you are more likely to develop hemochromatosis, and there are chances that this mutation can pass onto your children, but it is not necessary that all who inherit two genes develop problems related to excessive iron accumulation.
And if you inherit only one gene, you may not develop hemochromatosis, but you are to be considered a carrier, and you could pass on the mutation to your children. Your children may not develop the disease unless they have also inherited another abnormal gene from the other parent.
What Are the Common Presenting Signs and Symptoms of Hemochromatosis?
Certain people with hemochromatosis do not show any symptoms, and a few early signs and symptoms can overlap with those of other medical conditions.
Here are a few of the signs and symptoms of adult hemochromatosis:
-
Fatigue.
-
Weakness.
-
Joint pain.
-
Abdominal pain.
-
Loss of sexual desire.
-
Impotence (inability to achieve an erection or reach orgasm).
-
Diabetes.
-
Discoloration of the skin. The skin usually turns grayish or bronze in color.
-
Heart failure.
-
Liver failure.
-
Memory fog.
Though hereditary hemochromatosis is present from birth, some of the affected individuals do not develop signs and symptoms until later in life, typically after their 40s in men and after 60s in women. Women develop symptoms after menopause because the body is no longer able to lose iron through menstruation or pregnancy.
How Does Hemochromatosis Affect the Various Organs of the Body?
Iron is an essential mineral that performs various body functions, such as the formation of blood. There is a hormone known as hepcidin that is secreted by the liver, which normally controls the absorption of iron. So in the case of individuals affected with hemochromatosis, the normal function of hepcidin is disturbed, causing the body to absorb more iron than required.
The excessive iron load gets accumulated in different parts of the body, particularly the liver and the heart. Over time the stored iron can lead to organ failures such as liver failure or heart failure.
How Do I Know if My Condition Is Hemochromatosis?
Hemochromatosis is hard to diagnose as the signs and symptoms of hemochromatosis overlap with other medical conditions. And in fact, some people do not show any symptoms other than elevated levels of iron in the blood. The diagnosis is made based on the symptoms, detailed medical history, and thorough clinical evaluation. Blood tests are performed to detect the abnormally increased levels of iron in the blood. The elevated levels of serum ferritin, an indicator of the body’s iron store, to detect the increased transferrin saturation. The transferrin is a protein that plays a vital role in the transportation of iron from the intestine to the bloodstream.
A liver biopsy is performed to determine hemochromatosis. A liver biopsy helps to examine the presence and extent of cirrhosis. Certain other tests like MRI (magnetic resonance imaging) are used to detect the increased density of the liver due to excessive accumulation of iron in the blood. Even molecular testing can be performed if the patient has a family history of classic hereditary hemochromatosis, as it can detect the characteristic mutation of the gene that is causing the disorder.
How Is Hemochromatosis Managed?
Hemochromatosis can be managed by making certain diet changes and taking other appropriate treatment measures. By following certain diet modifications and the right treatment options, further organ damage can be delayed or prevented.
-
Diet Changes: Stay a little away from foods that contain high amounts of iron and avoid taking iron supplements. Try limiting your alcohol consumption as it can also affect the liver.
-
Iron Chelation Therapy: Iron chelation therapy helps remove excess iron from the body. The medication is taken orally or injected into the bloodstream.
-
Therapeutic Phlebotomy: Therapeutic phlebotomy uses a needle and a tube to remove the blood containing iron from the body.
Conclusion:
The prognosis of hemochromatosis depends on the timing of diagnosis and timely treatment. Hemochromatosis cannot be prevented but can be controlled by addressing and treating it early. When hemochromatosis is left unnoticed, it can lead to several complications such as organ failure, and possibly it can result in death.
