Iron overload disease is a disease in which too much iron is stored in the body. The large amounts of iron are stored in the body, causing an imbalance. Too much iron can cause damage, especially later in life. Timely discovery is important. Iron overload disease is also known as hemochromatosis and occurs in two forms.
Primary hemochromatosis
Primary hemochromatosis is a metabolic disorder and is caused by a hereditary defect. In these people the HFE gene is different from most other people. In primary hemochromatosis, the HFE gene is mutated. This mutation is called Cys282Tyr mutation. Moreover, a person can only become ill if both the father and mother pass on the mutated gene. Someone with one mutated gene does not become ill themselves, but can pass the gene on to any children.
Secondary hemochromatosis
Secondary hemochromatosis has another cause that usually occurs after an initial illness or condition. The cause cannot always be determined. A common cause of secondary hemochromatosis is a blood disease in which the patient has received many blood transfusions that contain a lot of iron.
Symptoms
Early symptoms
- Persistent fatigue
- Joint complaints
Later symptoms
- Complaints to the liver
- Stomach ache
- Diabetes
- Heart disorders
- Bone decalcification
- Skin discolours
- Early menopause
- Decreased libido
- Fertility decreases
Diagnosis
The first symptoms of hemochromatosis are vague. The complaints are similar to many other diseases. The condition is often only discovered at a late stage, because conditions such as chronic fatigue syndrome or burnout are often suspected earlier. Only when the complaints persist is iron overload disease often considered. Hemochromatosis is not difficult to detect. Blood tests can be used to determine whether there is iron overload. If this turns out to be the case, DNA testing will follow to see whether the disease is hereditary or not. This will be followed by other studies to see whether the excess iron has caused damage to the body. The extent of the damage is also examined. It is important that the diagnosis is made as soon as possible so that the disease can cause as little damage as possible.
Therapy
After the diagnosis, treatment starts immediately to de-iron the body. The surplus must return to a normal iron level and must then remain at this level. There are three methods to reduce iron excess.
Bloodletting
Bloodletting is simply done in the hospital. By the way, we don’t work with leeches. Bloodletting involves taking blood. Blood contains iron. Bloodletting causes a large amount of iron to disappear at once. This method is used for primary hemochromatosis. A doctor opts for bloodletting if the amount of ferritin in the blood is higher than 300 micrograms per liter. The protein ferritin is an important indicator of how much iron is stored in the blood. Usually half a liter of blood is drawn from a patient at a time. A nurse performs the bloodletting. The blood is drained through a hollow needle connected to a tube. The body replenishes the amount of blood itself. The treatment is not successful in all patients. Sometimes the fatigue gets worse.
Erythrocyte apheresis
During erythrocyte apheresis, blood is also drawn. This is done via the apheresis machine. This directs the blood into a centrifuge. This centrifuge splits the red blood cells from the plasma. The machine clears away the red blood cells and transports the white blood cells, plasma and platelets back to the body. With erythrocyte apheresis, more iron is removed, which means that the number of treatments can be significantly reduced. A disadvantage is that two needles must be inserted into the body. This treatment is offered in only a few hospitals in the Netherlands, which means that many patients cannot choose between bloodletting and erythrocyte apheresis. This treatment may have side effects, such as tingling in the fingers and around the mouth because the machine releases an anticoagulant into the blood. In some patients, the calcium level drops to a level that is too low.
Medication
Patients with secondary hemochromatosis are often treated with medication instead of phlebotomy or erythrocyte apheresis. Medication used is deferasirox, deferiprone and deferoxamine. Drug treatment is preferred if the patient suffers from severe anemia. Deferasirox is prescribed in tablet form and deferiprone in tablet form and in drinks. Deferoxamine can only be administered via infusion. Deferasirox is preferred over deferiprone, because deferiprone has more serious side effects. This drug is usually only prescribed when deferasirox does not suffice.
Other treatments
In patients where iron overload disease has caused permanent damage, treatment is also initiated for other diseases and conditions, such as diabetes and joint complaints.
Food
Patients with hemochromatosis do not need to follow a diet. It is practically impossible to follow a low-iron diet. Iron is found in almost all food. If you avoid iron-rich products too much, there is a chance that you will not get enough vitamins and minerals.
Prognosis
If iron overload disease is diagnosed early, damage is limited and life expectancy remains the same as a healthy person. Hemochromatosis often occurs slowly, so the consequences can be serious. If organs are damaged, the prognosis is often not so favorable.