Symptoms of hemochromatosis
introduction
Hemochromatosis is a disease in which there is an increased deposition of iron in the tissue. The main symptom of hemochromatosis is enlargement of the liver. However, hemochromatosis not only affects the liver, but can also cause symptoms in various organs through cell damage.
We have listed the main symptoms of hemochromatosis below:
- Enlargement of the liver, cirrhosis of the liver with fatigue, decreased performance
- Bronze Diabetes
- Darkening of the skin
- Dark circles and yellowing of the eyes
- Heart failure
- Joint pain
- Hypothyroidism with fatigue, weakness, cold intolerance
- impotence
- Bone loss, increased risk of fractures
Hemochromatosis is a storage disease. There are other storage diseases as well. If you would like to find out more, please also read: Storage diseases - there are!
Symptoms of the liver
The liver is typically affected by the iron build-up associated with hemochromatosis.
First of all, the deposits lead to an enlarged liver. Over time, however, the liver's ability to function is restricted. There is connective tissue remodeling and destruction of liver tissue. At this stage, one speaks of cirrhosis of the liver.
With the increasing loss of liver function, symptoms such as fatigue, exhaustion, decline in performance and weight loss occur.
If the disease is very advanced, the skin, eyes and itching become yellow. Other liver diseases, such as hepatitis, also have a negative effect on the course of the disease and promote the loss of liver tissue. With cirrhosis of the liver, there is a risk of tumor formation in the liver, known as hepatocellular carcinoma. This can rarely occur without existing liver cirrhosis and is difficult to treat. Due to an early diagnosis and the associated early start of therapy, liver cirrhosis occurs less often today.
The liver can also recover to a certain extent as part of the therapy if the previous damage is not too serious. Unfortunately, however, many patients - around 75% - still have cirrhosis of the liver when the diagnosis is made.
Symptoms of the Pancreas - Bronze Diabetes
The iron deposits in the pancreas cause the insulin-producing cells to die down over time. As a result, the body loses the ability to make insulin. However, insulin is important to keep blood sugar levels constant. If there is a lack of insulin, the sugar levels in the blood can be too high or too low, which can have serious consequences in both cases. One then speaks of diabetes mellitus. In connection with the bronze-colored skin, hemochromatosis is referred to as bronze diabetes. Diabetes mellitus can manifest itself as weight loss and increased urine output. Further symptoms are strong thirst, tiredness, cravings, a tendency to infection and poorly healing wounds. Diabetes mellitus is observed less often today, as hemochromatosis is recognized and treated earlier.
If you would like more information about this disease, we recommend our website: Diabetes mellitus - what is it and how do I recognize it?
Symptoms on the skin
The iron is deposited in the skin, among other things. This leads to a distinct darkening. In the final stage it is spoken of a bronze-colored skin. The armpits are particularly affected by the darkening of the skin. In addition to the increase in skin pigmentation, the hair thins, especially the armpit hair is affected. But the hair on the head can also fall out and turn gray early on.
It is assumed that the skin is not only darkened due to the iron deposits, but primarily due to an inflammatory reaction that is triggered by the iron. As part of this inflammatory reaction, there is an increased production of melanin, which is also responsible for a dark skin color in healthy people. Therefore, the brown color of the skin is particularly found in areas that are exposed to sunlight. Furthermore, nipples, perineum, palms of the hands and scars are also more affected. In addition to the dark discoloration of the skin due to the melanin, there are also increased red spots.
After starting the bloodletting therapy, there is usually a significant decrease in skin pigmentation. Bloodletting therapy is a medical procedure in which a large amount of blood is taken from the patient, which can then be replaced by infusions.
Symptoms around the eyes
Dark circles and yellowing of the sclera can occur in the context of hemochromatosis due to liver damage. In contrast to a metabolic disease of Wilson's disease, which classically results in copper deposits in the eye, deposits in the eye are not typical in hemochromatosis. However, cases have been reported of corneal deposits and associated visual impairment.
Heart symptoms
Because iron is stored in the heart, the heart muscle increases in mass and thickness. This initially makes the interior of the heart smaller. The increase in cardiac muscle mass has a negative effect on the heart's pumping capacity from a certain level. This mainly affects the blood filling of the heart, which can no longer be adequately carried out due to the increasing stiffness of the heart muscle. Medically, one speaks of hypertrophic cardiomyopathy. Heart failure then develops as part of hypertrophic cardiomyopathy. This means that the heart can no longer adequately supply the body with blood due to its insufficient pumping capacity. The functional impairment of the heart manifests itself in weakness and shortness of breath. In some cases, the mechanical pump restriction can lead to arrhythmias in the heart. An irregular heartbeat may be felt. The heart problem is one of the leading causes of death in hemochromatosis.
Symptoms on the joints
The joint spaces are often affected by iron deposits, which can lead to severe pain. Joint pain is one of the most common symptoms of hemochromatosis. They occur in every third to fourth patient. Typically, the metatarsophalangeal joints of the index and middle fingers are the first to be affected on both hands. In the further course, pain in larger joints, such as the knee, wrist or hip, is also possible. The joint pain can appear very early and well before the diagnosis. This is why a test for hemochromatosis should be made in the case of significantly increased iron values - the ferritin value (iron storage value) and the transferrin saturation (stress on the iron transporter in the blood) and existing joint pain in the fingers are particularly important. Unfortunately, joint pain can worsen as the disease progresses despite therapy.
Symptoms on the nerves
Unfortunately, the effects of hemochromatosis on the nerves have not yet been adequately researched. What is striking, however, is that, compared to the rest of the population, many patients affected by hemochromatosis report polyneuropathy. In a polyneuropathy, the small nerves more distant nerves (periphery) are affected, i.e. not the nerves of the central nervous system. Polyneuropathy is an umbrella term for several symptoms. These include abnormal sensations, which are often localized in the feet, and loss of sensitivity. Affected patients often describe the sensations as tingling ants. Other complaints are disturbances in vibration perception and temperature perception. Polyneuropathies can also occur in the context of liver diseases, diabetes mellitus or other diseases. The exact relationships are unfortunately not yet known.
Read more about this at: Symptoms of polyneuropathy
Symptoms of the pituitary gland - impaired hormone production
The increased iron deposition can lead to damage to the pituitary gland. Many hormones are produced here. Damage to the pituitary gland - also known as the pituitary gland - is therefore associated with impaired hormone production.
This can cause a variety of symptoms. Among other things:
- Hypothyroidism
- Pituitary gland
- impotence
- Bone loss
Hypothyroidism
In the course of hemochromatosis, iron deposits can also damage the pituitary gland. Depending on the extent, there is a complete or only partial restriction of the pituitary gland. The pituitary gland produces many hormones, including TSH, which causes hormone production in the thyroid. If this is no longer sufficiently formed, the thyroid hormones T3 / T4 are not produced either. This results in an underactive thyroid. This manifests itself in weakness, fatigue, cold intolerance, dry skin, weight gain and a slow pulse.
Read more about: Symptoms of an underactive thyroid
impotence
The cause of impotence or a loss of libido in hemochromatosis is inadequate function of the pituitary gland, the pituitary gland. This can be damaged in the context of iron overload. This leads to a lack of hormones that stimulate the sex glands in men and women. One speaks of a secondary hypogonadism. In men, less testosterone is produced and sperm production is impaired. In women, the ovaries are not stimulated enough, the egg cells cannot mature and ovulation does not occur. The monthly menstrual period is canceled. The doctor speaks of amenorrhea. Unfortunately, impotence only improves in a few cases after starting therapy.
Read more on this topic at: Impotence - erectile dysfunction
Cortisol deficiency
The production of hormones in the adrenal gland is also controlled by the pituitary gland. If this is damaged in the course of hemochromatosis, the adrenal gland no longer produces enough of the vital hormone cortisol. The lack of cortisol decreases performance. You quickly feel tired and powerless. In addition, there is nausea and paleness due to low blood pressure.
Bone loss - osteoporosis
As discussed under the sub-topic impotence, hemochromatosis can lead to a reduced or changed production of sex hormones. The cause is damage to the pituitary gland. However, the sex hormone estrogen is also very important in the regulation of bone remodeling. It leads to an inhibition of the cells that break down the bone matrix. If there is a lack of estrogen, bone loss is no longer adequately inhibited and bone loss occurs, which is also known as osteoporosis.
Further information on this topic can be found at: osteoporosis
Diagnosis of hemochromatosis
The diagnosis of hemochromatosis is essentially based on the patient's symptoms and clinical examinations. If hemochromatosis is suspected, further measures must be initiated. For the most part, these consist of medical laboratory examinations, which focus on specific iron values. These values are specialized proteins that transport and store iron.In addition, the absolute amount of iron in the blood is determined, which can be used to roughly estimate how strong the iron overload is in the body.
The specialized proteins used in hemochromatosis diagnostics are called ferritin and transferrin. In addition to these values, the so-called transferrin saturation is also determined.
Ferritin is the storage form of iron in body tissue and is significantly increased in hemochromatosis. Transferrin is the iron transport protein and is also increased in hemochromatosis. The transferrin saturation indicates how much the transport protein is overloaded with iron. At the same time, transferrin saturation is the most sensitive (most sensitive) parameter in the diagnosis of hemochromatosis, since it is least changed by external influences. The ferritin can rise to 6,000 ug / l in sick people, with a normal value of 500 ug / l.
You can find more information on elevated ferritin levels on the following page: Ferritin level increased
