Iron storage disease, or siderosis, is a condition that results in greatly elevated levels of total iron in the human body. This accumulated iron in the body can lead to severe organ damage, especially to the liver and pancreas, after an incubation period of decades if left untreated. Thus, iron storage disease is in contrast to iron deficiency anemia.
What is iron storage disease?
Iron storage disease, or siderosis, is also known as hemochromatosis or siderophilia. If it is hereditarily acquired, physicians talk about hereditary siderosis; if it is caused by the change in the hereditary factors (gene mutation), it is called primary siderosis. Affected individuals 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 excess iron can lead to various serious damages of the organs, especially the liver and the pancreas, but also the spleen, the thyroid gland, the pituitary gland as well as the heart. Joint damage as well as skin diseases can also be caused by siderosis.
Causes
Genetic inheritance of iron storage disease is linked to a particular circumstance: Both the mother and father must each pass an altered gene to their offspring. Affected persons always pass on the altered gene to their child – whether the child also develops siderosis depends on whether the other parent also carries the gene with the predisposition for the disease. In addition to the above-mentioned factors of heredity and changes in the genetic makeup, iron storage disease can also be acquired through external influences. This is referred to as secondary siderosis. Triggers here can be, for example, frequent blood transfusions, as well as certain pre-existing diseases such as hepatitis B or C. Alcohol abuse is also a causative factor.
Alcohol abuse is also causally associated with secondary iron storage disease. If iron storage disease is acquired through heredity, the number of affected men is about five to ten times higher than that of women.
Symptoms, complaints, and signs
In hereditary iron storage disease, no symptoms appear at the beginning. As a rule, siderosis does not become noticeable until the age of 30 with the first signs of illness. When the total iron content in the body reaches a certain concentration, there are initially general symptoms that may also indicate other diseases. Thereafter, the symptoms become progressively worse. The risk of complications increases. The general symptoms include fatigue, general weakness, malaise, formation of dark skin patches, reduction in sex drive, and weight loss. Later, a variety of symptoms are added, which become more and more severe. These include shortness of breath, joint problems, cardiac arrhythmias, heart failure or enlargement of the spleen. Complications can include diabetes mellitus, cirrhosis of the liver, liver cancer and kidney damage. Iron storage disease is very treatable. However, the success of treatment also depends on the time of diagnosis. If treatment is started early, there is no reduction in quality of life and life expectancy. However, if treatment begins too late, irreversible changes may already be present in the liver, heart, pancreas or joints, so that a complete cure is no longer possible. In about 70 percent of those affected who are treated too late, diabetes mellitus develops, which is difficult to treat because of the high iron concentration in the body. In addition, the risk of liver cancer is increased 200-fold in the advanced stages of the disease.
Diagnosis and progression
The symptoms of iron storage disease are initially nonspecific. Fatigue and general lassitude are among them, as are malaise and weakness. Over time, symptoms may include a gray-brown discoloration of the skin due to liver damage, joint pain with stiffness and swelling of the joints, and a palpably enlarged liver and spleen. In advanced status, liver cirrhosis may develop, abdominal dropsy and diabetes mellitus may follow, as well as cardiac arrhythmias and even heart failure.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, the so-called total iron binding capacity as well as the transferrin saturation with iron. Serum ferritin, in turn, can be used to determine the value of total iron in the body. The blood values, which are already quite reliably indicative of an iron storage disease, are supported by the determination of special tissue protein types. Less commonly, computed tomography of the liver or a liver biopsy are used for diagnosis.
Complications
Siderosis is a serious condition that can lead to death without adequate treatment. If the organism suffers from an excess of iron, this substance accumulates in various organs. As a further consequence, these are limited in their function. The deposition causes enlargement of certain organs, such as the liver or spleen. If left untreated, other serious complications can occur. Joint problems and discoloration of the skin are possible. Affected individuals may also subsequently acquire diabetes mellitus. As a result, they are dependent on exogenous insulin for the rest of their lives. Without insulin treatment, this disease is fatal. Due to siderosis, problems with the heart can also develop. Cardiac arrhythmias and heart failure are possible complications of this disease. Furthermore, menstruation may not occur. In severe cases, siderosis can lead to impotence. The liver is particularly at risk in untreated or inadequately treated siderosis. In quite a few cases, cirrhosis of the liver occurs. In this case, the healthy structure of the liver has been destroyed and replaced by connective tissue. This can no longer perform 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 and this 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, iron storage disease may be underlying. A visit to the doctor is recommended if symptoms have not resolved after several days to weeks. In women, menstruation may also be interrupted, and in men the disease can lead to impotence – in both cases, immediate medical attention is recommended. If iron storage disease remains untreated, other symptoms such as cirrhosis of the liver, cardiac arrhythmia and pancreatic dysfunction will develop. Medical advice is needed at the latest when signs of these complaints are noticed. People who have taken intravenous or intramuscular iron supplements over a long period of time are particularly at risk. If for other reasons a disturbed blood formation or an increased iron intake is suspected, a doctor must be consulted immediately if signs are mentioned. If iron storage disease is treated in time, the chances of cure are usually very good. Sometimes early diagnosis by genetic testing can prevent the onset of the disease altogether.
Treatment and therapy
Treatment of iron storage disease is primarily aimed at removing the excess iron in the body. Bloodletting therapies, also known as iron depletion therapies, in which five hundred milliliters of blood are regularly drawn from affected individuals, are first and foremost in this regard. Each session, the body is thus deprived of about two hundred and fifty milligrams of iron via the iron-containing blood pigment hemoglobin, which it then draws back into the blood from the iron stores of the organs. In this way, the organs are relieved of a little more iron with each bloodletting. The therapy of iron storage disease by bloodletting continues until the total iron value of the body has returned to a normal level. Even after the excess iron is removed, the patient must have his serum ferritin level checked regularly. If necessary, it may be necessary to repeat phlebotomy therapy 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.Nowadays, this iron depletion therapy is only used if the patient cannot be bled – for example, if he has acquired his siderosis through numerous transfusions for bone marrow disease. Bloodletting here would only lead to further anemia.
Outlook and prognosis
If iron storage disease is detected and treated in time, there is no reduction in life span 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 initially untreated siderosis include diabetes mellitus, cirrhosis of the liver, liver cancer, heart failure and joint problems. In the case of iron storage disease, for example, diabetes is very difficult to control. The other diseases are also irreversible. This means that they cannot be cured even after the iron level in the body has been successfully normalized. However, the sooner a reduction in the iron level is achieved, the better subsequent damage that has already occurred can still be treated symptomatically. Thus, with a normal iron level, diabetes can also be better controlled again. Liver cirrhosis cannot be cured. However, its intensive treatment after reduction of the iron excess helps to reduce the risk of liver cancer. Joint changes can also no longer be cured. But the progression of the disease processes can also be stopped here after a reduction of the iron level. In primary or hereditary siderosis, the excess iron can be readily reduced by regular phlebotomies and a low-iron diet. Secondary siderosis is treated medicinally with deferoxamine, which normalizes iron levels by increasing iron excretion. Thus, successful treatment of iron excess, as opposed to its sequelae, is always possible.
Prevention
Because iron storage disease is largely hereditary or caused by genetic mutations, it cannot be prevented by a generally healthy lifestyle. What is important for the at-risk group – for example, children of two parents with the corresponding gene alteration – is regular monitoring of the blood values described above even in the symptom-free early stage. Thanks to the timely use of phlebotomy therapy, iron storage disease can now be brought under control quite successfully, so that organ damage does not occur in the first place and the quality of life of those affected is hardly affected.
Follow-up
In most cases of iron storage disease, no special aftercare measures are necessary or possible. In this case, the disease also cannot be treated completely or causally, since it is the patient’s own congenital defect. Therefore, should the affected person wish to have children, genetic counseling may also be useful in order to possibly prevent inheritance of the iron storage disease. As a rule, patients are dependent on lifelong therapy in order to permanently alleviate the symptoms. Treatment is carried out with the aid of medication. Patients must ensure that they take the medication regularly and in the correct dosage. In case of questions or uncertainties, a doctor should always be contacted first. Furthermore, foods that contain a lot of iron should be taken to counteract the iron deficiency. Further measures are usually not necessary to alleviate the symptoms. If iron storage disease is detected at an early stage, there is also no reduction in the life expectancy of the affected person. However, it is not uncommon for patients to be dependent on bone marrow transfusions. Therefore, regular examinations of the body should also be carried out in order to detect further complaints at an early stage.
What you can do yourself
Iron storage disease can be genetic but also acquired during life. Patients in whom the cause is available through thorough medical history can support their therapy plan in detail within the framework of self-help. The problem of the symptom is mainly due to the extremely excessive amount of iron that remains in the body when consuming food or an excess of artificial iron supplements. If the diagnosis is made in time and if the person concerned heeds a few rules in everyday life, he can continue to maintain his level of living. Nutrition is an important aspect of this.Iron-containing products should be reduced to a minimum because they are counterproductive to the prescribed medication for iron excretion and cause massive damage to the liver. Since the small intestine is considered one of the culprits for faulty iron storage in the body, a meat-free but fiber-rich diet is a great support for utilization. In addition, up to three liters should be drunk daily. Especially with regard to the acquired iron storage disease, it is absolutely advisable to avoid alcohol. Patients can use a test stick to check and determine their own iron levels. This is particularly advisable for those affected with diabetes mellitus and cardiovascular disease.