The Iron storage disease or Siderosis is a condition that results in a greatly increased total iron content in the human body. 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?
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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.
causes
The genetic inheritance of iron storage disease is linked to a special circumstance: Both the mother and the father have to pass on a modified gene to their offspring. In any case, those affected pass on the changed gene 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 factors mentioned heredity 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.
Alcohol abuse is also causally linked to the secondary iron storage disease. If iron storage disease is inherited, the number of men affected is about five to ten times higher than that of women.
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With hereditary iron storage disease, there are no symptoms at the beginning. As a rule, the siderosis does not become 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 initially appear, which can also indicate other diseases. After that, the symptoms get worse.
The risk of complications increases. The general symptoms include fatigue, general weakness, malaise, the formation of dark spots on the skin, a reduction in the sex drive and weight loss. Later on there are a variety of symptoms that become more and more pronounced. These include shortness of breath, joint problems, cardiac arrhythmias, weak heart or enlarged spleen.
Diabetes mellitus, liver cirrhosis, liver cancer and kidney damage can occur as complications. 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 reduction in quality of life or 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 increased 200 times.
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 an advanced state, cirrhosis of the liver can occur, ascites and diabetes mellitus can follow, as can cardiac arrhythmias and even heart failure.
The diagnosis of iron storage disease is made using 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 total iron content in the body.
The blood values, which already reliably indicate an iron storage disease, are supported by the determination of special tissue protein types. A computed tomography of the liver or a liver biopsy is rarely used for diagnosis.
Complications
Siderosis is a serious condition that can be fatal 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 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 the 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. Furthermore, it can happen that menstruation does not occur. In severe cases, siderosis can lead to impotence. The liver is particularly at risk in 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 the 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 intake 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.
Doctors & therapists in your area
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 those affected, 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 into the blood from the iron stores of the organs. 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 a renewed excessive iron storage.
Iron storage disease used to be treated with the drug desferrioxamine (Desferal®). This is able to bind iron so that it can be excreted. Nowadays, this iron depletion therapy is only used when the patient cannot be bled - for example, if he has acquired his siderosis through numerous transfusions for 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 even after the iron level in the body has successfully normalized, these can no longer be cured. However, the earlier the iron level is reduced, the easier it is for subsequent damage that has already occurred to be treated symptomatically.
With a normal iron level, diabetes is easier to control 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 joint changes 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 is always possible, in contrast to its consequential damage.
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➔ Medication for fatigue and weaknessprevention
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 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 organ damage does not even occur and the quality of life of those affected is hardly affected.
Aftercare
In most cases of iron storage disease, no special follow-up measures are necessary or possible. The disease cannot be treated completely or causally, since 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 iron deficiency. As a rule, no further measures are 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. Not infrequently, however, patients are dependent on transfusions of bone marrow. Therefore, regular examinations of the body should be carried out in order to detect further symptoms at an early stage.
You can do that yourself
The iron storage disease can be genetically determined but also acquired in the course of life. Patients whose cause is evident from a thorough anamnesis can support their therapy plan in detail 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 eating or using an excess of artificial iron supplements. If the diagnosis is made in good time and if the person concerned follows 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 defective iron storage 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 avoid 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.
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