Iron Storage Disease - Causes, Diagnosis, Therapy

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Iron Storage Disease - Causes, Diagnosis, Therapy
Iron Storage Disease - Causes, Diagnosis, Therapy

Video: Iron Storage Disease - Causes, Diagnosis, Therapy

Video: Iron Storage Disease - Causes, Diagnosis, Therapy
Video: Hemochromatosis - causes, symptoms, diagnosis, treatment, pathology 2024, March
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Iron storage disease

Iron storage disease (hemochromatosis, siderosis, bronze diabetes) causes the body to become overloaded with iron. The excess iron can accumulate in organs and tissues and damage them over time. Symptoms caused by this usually only appear at an advanced age. Hereditary primary hemochromatosis leads to an increased absorption (absorption) of iron. In secondary hemochromatosis, iron overload occurs due to frequent blood transfusions that are necessary for other underlying diseases.

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  • What are the causes of iron storage disease?
  • What are the symptoms?
  • How is the diagnosis of iron storage disease made?
  • How is iron storage disease treated?
  • Whom can I ask?
  • How are the costs settled?

What are the causes of iron storage disease?

In most cases, hemochromatosis is due to an inherited genetic defect; it is rarely caused by other triggers.

Primary hemochromatosis

Primary hemochromatosis is one of the most common hereditary diseases. It spread over Europe with the great migration of the Celts and the conquest of the Vikings and is therefore more common in Northern Europe than in Southern Europe.

Primary hemochromatosis is due to an error (usually a C282Y mutation, more rarely an H63D mutation in the HFE gene) on chromosome 6. This disrupts the regulation of iron absorption through the mucous membrane of the small intestine - the body absorbs more iron than necessary. The disease only occurs if both versions of the gene have a defect (autosomal recessive inheritance), which means:

  • People with only one defective chromosome 6 (C282Y heterozygosity) stay healthy, but can pass this defect on to their children. In Europe, this is the case for around one in twenty.
  • Iron storage disease is present from birth in people with two defective chromosomes (C282Y homozygosity). It affects one in 400 people in Europe (1:80 in Ireland).

Secondary hemochromatosis

In rare cases, iron storage disease can also be acquired over a lifetime. Frequent blood transfusions, which are necessary in the case of certain blood formation disorders (thalassemia major, etc.), come into question as a trigger.

What are the symptoms?

The disease does not cause any symptoms for a long time. In primary hemochromatosis, the first symptoms in men usually appear after the age of 40, in women only 20 years after menopause. This is likely due to an increased iron requirement due to menstruation, pregnancy and breastfeeding.

The symptoms are based on the increased storage of iron in organs (especially liver, heart, pituitary gland, pancreas, thyroid gland, parathyroid gland and gonads) and tissues (heart muscles, joints and skin).

The first symptoms of advanced hemochromatosis include:

  • Joint pain,
  • Erectile dysfunction,
  • Loss of secondary male hair (beard hair, chest, pubic and abdominal hair, etc.)
  • Weight loss and increased urination (symptoms of diabetes mellitus),
  • Darkening of the skin (due to increased production of the skin pigment melanin), especially areas exposed to the sun, as well as nipples, perineum, palms and scars.

Liver fibrosis (increase in connective tissue) gradually develops in the liver, and later liver cirrhosis (tissue scarring). A third of those affected develop hepatocellular carcinoma after decades.

It can also lead to a disease of the heart muscle (cardiomyopathy) with heart failure or cardiac arrhythmia. The joints (arthropathy) can also be affected. Often pain occurs first in the small joints of the hand, later also in the large joints.

How is the diagnosis of iron storage disease made?

In the anamnesis, it is clarified which symptoms are present and whether there are already known cases of iron storage disease in the family. Furthermore, the iron balance is assessed as part of a blood test. To this end, serum iron levels, ferritin and transferrin saturation are measured. If necessary, further examinations of the liver (laboratory values, MRI, Fibroscan, biopsy) and heart (EKG, echocardiography, MRT, heart iron measurement) as well as a test for certain hormones follow. In the case of primary iron storage disease, a genetic test is also carried out.

How is iron storage disease treated?

If left untreated, the disease leads to death. On the other hand, if therapy started early - ie before the occurrence of organ damage - the life expectancy is largely normal. Treatment for hemochromatosis is relatively straightforward, but must be maintained for life. The aim is to empty the body's iron stores. Various options are available for this, the most effective being bloodletting therapy.

Bloodletting therapy

In primary hemochromatosis, 400 to 500 ml of blood (equivalent to 200 to 250 mg iron) are removed every one week. The therapy is started when the ferritin values are elevated and the frequency is maintained until a target value of less than 50 micrograms / liter is reached. Up to 50 bloodletting is required in advanced hemochromatosis before the iron deposits are emptied. In order to maintain a balanced body iron balance, individually adjusted four to twelve bloodletting per year are usually sufficient.

Bloodletting therapy can also be used for secondary hemochromatosis; the intervals are usually longer. A prerequisite is a sufficiently high hemoglobin content in the blood.

According to the European Society for Liver Studies (EASL), the benefits of bloodletting therapy have been properly proven, even without randomized controlled trials. Fatigue, increased transaminases, the stage of liver fibrosis and skin tone improve with bloodletting therapy. The arthralgias usually do not improve. Resolution of endocrine disorders, diabetes, and cardiac disease varies depending on the stage of tissue destruction at the time of diagnosis.

Erythrocyte apheresis

The blood is mechanically broken down into its components. Compared to bloodletting, more erythrocytes can be removed per treatment, which means that the ferritin values drop much more quickly. The remaining blood components (plasma, leukocytes and thrombocytes) are returned to the patient.

Medicinal iron elimination (chelation therapy)

Iron chelators (e.g. deferoxamine, deferiprone) can be an alternative for patients who cannot tolerate bloodletting or for whom it is contraindicated (e.g. in anemia, advanced cardiomyopathy, diabetes). The substances bind iron in the serum and tissue and promote excretion via urine and bile (stool).

Low iron diet

In primary hemochromatosis, foods that are particularly rich in iron, such as liver, should be avoided. However, a low-iron diet has no additional effect on bloodletting therapy. Iron-containing vitamin supplements and iron supplements should be avoided. The intake of vitamin C should not exceed 500 mg / day. The alcohol consumption should be as low as possible.

Complications such as diabetes, liver cirrhosis, arthropathy, endocrine disorders (hypogonadism, hypothyroidism), heart disease or osteoporosis should be treated accordingly. Vaccination against hepatitis A and hepatitis B is recommended.

Whom can I ask?

Specialists in internal medicine with additional subjects in gastroenterology and hepatology are responsible for the diagnosis and treatment of hemochromatosis.

How are the costs settled?

All necessary and expedient steps for diagnosis and therapy are taken over by the health insurance carriers. Your doctor or the outpatient clinic will generally settle accounts directly with your health insurance provider. However, you may have to pay a deductible with certain health insurance providers.

However, you can also use a doctor of your choice (ie doctor without a health insurance contract) or a private outpatient clinic.

You can find more information under Costs and Deductibles and on the website of the social security agency.

When hospitalization is required

Hospitalization may be required if a diabetic coma or advanced liver cirrhosis occurs. Here, the hospital costs are billed. The patient has to pay a daily contribution to the costs.

For more information, see What does a hospital stay cost?

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