Characteristics
Hereditary hemochromatosis is a genetic disorder in which the body builds up excessive amounts of iron in different organs, including the skin, the liver, the heart, the pancreas, and the joints. These excess levels of iron can lead to organ damage and severe complications, such as liver cirrhosis, heart problems, chronic joint pain, or diabetes.
The most common cause of hereditary hemochromatosis consists of an (inherited) mutation in the HFE gene. The proteins encoded by these genes all play an important roles in regulating the absorption, transport, and storage of iron in the body. Mutations in these genes impair the control of the absorption of iron from foods during digestion and alter the distribution of iron to other parts of the body. As a result, iron accumulates in tissues and organs, which can disrupt their normal functions.
People of Northern European descent are more prone to hereditary hemochromatosis than people with another ethnic background. In addition, men are more likely than women to develop symptoms of hemochromatosis at an earlier age. The main reason for this is that women often lose iron through menstruation and pregnancy, and they also tend to store less iron than men.
Patient materials
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Symptoms
The symptom burden among patients with hemochromatosis is highly variable. In fact, while some people with high levels of iron don’t experience any problem, others may have very serious symptoms. Symptoms usually don’t appear until middle age, and often mimic symptoms from other conditions. Some of the more common symptoms include fatigue, a general feeling of weakness, an irregular heartbeat, pain in the knuckles and joints, stomach pain and an unexplained weight loss.
Diagnostic tests
The two key tests to detect iron overload are a serum transferrin saturation test and a serum ferritin assay. While the first test measures the amount of iron bound to the protein that carries iron in the blood (transferrin), the second one evaluates the amount of iron that is stored in the liver.
Additional tests include genetic testing to look for mutations in the HFE gene or other genes that are known to cause hereditary hemochromatosis. Furthermore, a fibroscan or a liver MRI are often performed to identify potential liver damage. Rarely, a liver biopsy is performed, mainly to rule out other causes of liver disease. In addition, this also allows physicians to assess the level of iron in the liver.
Treatments
The standard treatment for patients with hereditary hemochromatosis consists of the regular removal of blood (phlebotomy). The amount of blood that is removed and the frequency of the phlebotomies depends on the age and overall health of the patient and the severity of the iron overload.
In addition to the therapeutic removal of blood, patients may further reduce their complication risk by avoiding the intake of iron-rich food such as raw fish or seafood. Also vitamin C supplements should be avoided as this vitamin is known to increase the absorption of iron.
Relevant patient organisations
Get connected to different patient organisations that connect you to people with the same medical history. Support amongst peers helps the burden and stress of the daily challenges that come with disorders.
Find below some organisations we can recommend.
Be aware that these groups operate mainly in Dutch or French given their local nature, don’t hesitate to contact them nevertheless.
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