iron storage disease

Comprehensive Guide to Iron Storage Disease (Siderosis)

The iron storage disease or siderosis is a condition that has a greatly increased total iron content in the human body result. If left untreated, this iron, which is enriched in the body, can lead to severe organ damage, especially to the liver and pancreas, after decades of incubation. The iron storage disease is in contrast to iron deficiency anemia.

What is iron storage disease?

According to PHONECATIONS.COM, iron storage disease or siderosis is also known as hemochromatosis or siderophilia. If it is hereditary, the doctor speaks of hereditary siderosis, if it is caused by changes in the genetic make-up (gene mutation), it is called primary siderosis.

Those affected suffer from an increased absorption of the essential trace element iron in the upper small intestine. This means that the iron content in the entire human body exceeds the normal value many times over.

Over the years, the iron excess can lead to various serious damage to organs, especially the liver and pancreas, but also to the spleen, thyroid, pituitary gland and heart. Joint damage and skin diseases can also be caused by siderosis.


The genetic inheritance of iron storage disease is linked to a special circumstance: Both the mother and the father each have to pass a modified gene on to their offspring. In any case, those affected pass the changed gene on to their child – whether the siderosis breaks out in this one depends on whether the other parent also carries the gene with the predisposition for the disease.

In addition to the hereditary factors mentioned and changes in the genetic make-up, iron storage disease can also be acquired through external influences. This is called secondary siderosis. Triggers here can be, for example, frequent blood transfusions, as well as certain previous illnesses such as hepatitis B or C.

Also, alcohol abuse is brought cause the secondary iron storage disease in combination. If iron storage disease is inherited, the number of men affected is about five to ten times higher than that of women.

Symptoms, ailments & signs

In the case of hereditary iron storage disease, there are no symptoms at the beginning. As a rule, the siderosis only becomes noticeable with the first signs of disease from the age of 30. When the total iron content in the body has reached a certain concentration, general symptoms appear first, which can also indicate other diseases. After that, the symptoms get worse.

The risk of complications increases. The general symptoms express themselves among other things in tiredness, general weakness, malaise, formation of dark skin spots, reduction of the sex drive as well as weight loss. Later on, a variety of symptoms appear, which become more and more pronounced. These include shortness of breath, joint problems, cardiac arrhythmias, weak heart or enlarged spleen.

Complications that can occur are diabetes mellitus, liver cirrhosis, liver cancer and kidney damage. The iron storage disease is very treatable. However, the success of the treatment also depends on the time of diagnosis. With early treatment, there is no impairment of quality of life and life expectancy.

However, if therapy starts too late, irreversible changes to the liver, heart, pancreas or joints may already be present, so that complete healing is no longer possible. About 70 percent of those affected who are treated too late develop diabetes mellitus, which is difficult to treat due to the high iron concentration in the body. In addition, the risk of liver cancer in the advanced stages of the disease is 200 times higher.

Diagnosis & course

The symptoms of iron storage disease are initially unspecific. Fatigue and general exhaustion are just as much a part of it as malaise and weakness. Over time, symptoms such as gray-brown discoloration of the skin due to liver damage, joint problems with stiffness and swelling of the joints, and a palpably enlarged liver and spleen may appear.

In the advanced state, cirrhosis of the liver can occur, ascites and diabetes mellitus can follow, as can cardiac arrhythmias up to and including cardiac insufficiency.

The diagnosis of iron storage disease is made by means of a combined examination of blood and tissue. The blood laboratory values ​​provide information about the serum iron level, about the so-called total iron binding capacity and the transferrin saturation with iron. In turn, the serum ferritin can be used to determine the value of the total iron content in the body.

The blood values, which are already quite reliably indicative of an iron storage disease, are underpinned by the determination of special tissue protein types. Computed tomography of the liver or a liver biopsy are used less often for diagnosis.


Siderosis is a serious condition that can lead to death without adequate treatment. If the organism suffers from an excess of iron, this substance is deposited in different organs. As a result, these are restricted in their function. The deposits cause certain organs such as the liver or the spleen to enlarge.

Other serious complications can occur if left untreated. Joint problems and discoloration of the skin are possible. Those affected can also develop diabetes mellitus as a result. As a result, they are reliant on exogenous insulin for life. Without insulin treatment, this disease is fatal. Heart problems can also arise due to siderosis.

Arrhythmias and heart failure are possible complications of this condition. It can also happen that menstruation does not occur. In severe cases, siderosis can lead to impotence. The liver is particularly at risk in the case of untreated or inadequately treated siderosis. Liver cirrhosis occurs in not a few cases.

In this case, the healthy structure of the liver has been destroyed and replaced by connective tissue. This can no longer carry out the previous function of the liver as an important detoxification and metabolic organ. The result is massive further complications. In the worst case, it leads to liver failure, which ultimately leads to death.

When should you go to the doctor?

If symptoms such as fatigue, joint and upper abdominal pain, and symptoms of diabetes mellitus occur, the underlying cause may be iron storage disease. A visit to a doctor is recommended if the symptoms have not subsided after a few days or weeks.

Women can also miss menstruation, while the disease leads to impotence in men – in both cases, an immediate medical evaluation is advisable. If the iron storage disease remains untreated, further symptoms such as cirrhosis of the liver, cardiac arrhythmias and dysfunction of the pancreas arise.

Medical advice is required at the latest when signs of these symptoms are noticed. People who have had long-term intravenous or intramuscular iron intake are particularly at risk. If, for other reasons, impaired blood formation or an increased iron supply is suspected, a doctor must be consulted immediately if the symptoms are mentioned. If the iron storage disease is treated in good time, the chances of recovery are usually very good. Sometimes an early diagnosis through a genetic test can prevent the onset of the disease altogether.

Treatment & Therapy

Treatment for iron storage disease is primarily aimed at breaking down the excess iron in the body. Bloodletting therapies, also known as iron evacuation therapies, in which five hundred milliliters of blood are regularly taken from the affected person, should be mentioned here in the first place.

Per session, the iron-containing blood pigment hemoglobin removes around two hundred and fifty milligrams of iron from the body, which the body draws back from the iron stores of the organs into the blood. In this way, the organs are relieved a little more with each bloodletting. The therapy of iron storage disease by means of bloodletting continues until the total iron value of the body has reached a normal level again.

Even after the excess iron has been removed, the patient must have his serum ferritin level checked regularly. It may be necessary to repeat the bloodletting therapy in order to counteract renewed excessive iron storage.

In the past, iron storage disease was also treated with the drug desferrioxamine (Desferal®). This is able to bind iron so that it can be excreted. This iron depletion therapy is only used nowadays if the patient cannot be bled – for example, if he has acquired his siderosis through numerous transfusions while suffering from bone marrow disease. Bloodletting would only lead to further anemia.

Outlook & forecast

If the iron storage disease is recognized and treated in good time, there are no restrictions on lifespan and quality of life. Unfortunately, siderosis is often diagnosed too late because it does not cause any symptoms in the early stages. Consequential damages of an initially untreated siderosis include diabetes mellitus, liver cirrhosis, liver cancer, heart failure and joint problems.

In the case of iron storage disease, for example, diabetes is very difficult to adjust. The other diseases are also irreversible. This means that these can no longer be cured even after the iron level in the body has successfully normalized. However, the earlier a reduction in the iron level is achieved, the easier it is for subsequent damage that has already occurred to be treated symptomatically.

With a normal iron level, diabetes is more manageable again. Cirrhosis of the liver cannot be cured. However, its intensive treatment after the iron excess has been broken down helps to reduce the risk of liver cancer. The changes in the joints are also no longer curable. But the progression of the disease processes can also be stopped here after a reduction in the iron level.

In primary or hereditary siderosis, the excess iron can be easily broken down through regular bloodletting and a low-iron diet. Secondary siderosis is treated with deferoxamine medication, which normalizes the iron level through increased iron excretion. In this way, a successful treatment of the iron excess, in contrast to its consequential damage, is always possible.


Since the iron storage disease is largely hereditary or caused by genetic changes, it cannot be prevented by a generally healthy lifestyle. For the risk group – for example children of two parents with a corresponding genetic change – it is important to regularly check the blood values ​​described above even in the symptom-free early stage.

Thanks to bloodletting therapy used in good time, iron storage disease can now be brought under control quite successfully, so that there is no organ damage in the first place and the quality of life of those affected is hardly impaired.


In most cases of iron storage disease, no special follow-up measures are necessary or possible. The disease cannot be treated completely or causally, as it is an inherent congenital defect. If the person concerned therefore wishes to have children, genetic counseling can also be useful in order to prevent the iron storage disease from being inherited.

As a rule, the patients are dependent on lifelong therapy in order to permanently alleviate the symptoms. The treatment is carried out with the help of medication. The person affected must ensure that they are taken regularly and that the dosage is correct. If you have any questions or are unclear, a doctor should always be contacted first.

Furthermore, foods that contain a lot of iron should also be consumed in order to counteract the iron deficiency. Further measures are usually not necessary to alleviate the symptoms. If the iron storage disease is recognized at an early stage, there is also no reduced life expectancy for the person affected. However, it is not uncommon for patients to rely on bone marrow transfusions. Therefore, regular examinations of the body should be carried out in order to detect further complaints at an early stage.

You can do that yourself

The iron storage disease can be genetic, but it can also be acquired in the course of life. Patients whose cause is evident from a thorough anamnesis can provide detailed support for their therapy plan as part of self-help. The problem with the symptom is mainly due to the extremely excessive amount of iron that remains in the body when food is consumed or when there is an excess of artificial iron supplements. If the diagnosis is made in good time and if the person concerned heeds a few rules in everyday life, they can continue to maintain their standard of living.

An important point is nutrition. Iron-containing products should be reduced to a minimum because they are counterproductive to the prescribed drugs for iron excretion and cause massive damage to the liver. Since the small intestine is one of the causes of the incorrect storage of iron in the body, a meat-free but high-fiber diet is a great help in recovery. In addition, up to three liters should be drunk daily. In view of the acquired iron storage disease, it is absolutely advisable to refrain from alcohol.

With a test stick, the patient can check and determine his iron levels himself. This is particularly advisable for people with diabetes mellitus and cardiovascular diseases.

iron storage disease

About the author