Brown diabetes, or primary hemochromatosis, is a serious metabolic disease. Brown diabetes can lead, among others, to for cardiomyopathy and irreversible cirrhosis of the liver. In addition, it increases the risk of developing hepatocellular carcinoma. What are the causes and symptoms of brown diabetes (primary haemochromatosis)? What is its treatment?

Brown diabetes mellitus(brown), i.e.primary hemochromatosis , is a genetically conditioned metabolic disease, the essence of which is the deposition of excess iron in the organs , mainly in the liver, pancreas and articular cartilage.

This is because the system that removes this element from the body is not working properly. The one that controls iron absorption from the gastrointestinal tract works smoothly. A he althy person's body contains about 3-4 g of iron. In turn, after 10 years of accumulating about 2 mg of iron per day in the patient's body, as much as 40 g of this element may accumulate.

This leads to damage and failure of organs in which iron accumulates, incl. for cirrhosis of the liver, which increases the risk of developing liver cancer, cardiomyopathy, exocrine pancreatic insufficiency and diabetes.

Brown diabetes (primary haemochromatosis) - causes

The disease is caused by a mutation in the HFE gene, which disrupts the process of iron excretion, and thus - its accumulation in the body.

Brown diabetes mellitus is inherited in an autosomal recessive manner, ie a copy of the defective HFE gene must be inherited from each parent for symptoms of the disease to develop. It is estimated that 6 percent of the carriers of the mutated gene are carriers. society, and its prevalence is estimated at 1: 200-1: 400, which makes it the most common genetically determined disease.

Brown diabetes (primary haemochromatosis) - symptoms

The onset of disease symptoms begins in adulthood, usually after the age of 40 in men and around the age of 50 in women. The early symptoms of brown diabetes are not specific, but a triad of symptoms (the so-called three A syndrome) may draw your attention:

  • arthralgia - joint pain that occurs in the absence of overt arthritis;
  • asthenia - deficiency or lack of strength, physical and mental weakness;
  • aminotransferase - is an enzyme that is found inside the liver cells. Its appearance in the blood in significant amounts means that the cells of this organ have been damaged;

When an excessive amount of iron is accumulated in the body, a full-blown, classic form of brown diabetes appears, i.e.

  • cirrhosis of the liver (the liver is enlarged, hard, tender, and its surface is uneven);
  • gray-brown discoloration of the skin, especially around the face and neck (it is the result of melanin accumulation in the basal layer of the epidermis);
  • diabetes;
  • cardiomopathy;
  • polyarthritis;

Brown diabetes (primary haemochromatosis) - diagnosis

In order to diagnose the disease, blood tests are performed. Elevated serum ferritin and iron levels, and elevated iron transferritin levels indicate brown diabetes. A blood glucose test and a urine glucose test are also performed. An increased amount of glucose in the blood and the presence of sugar in the urine (glucosuria) indicate the appearance of diabetes mellitus. Final diagnosis is made on the basis of genetic testing.

Brown diabetes (primary haemochromatosis) - treatment

Treatment of brown diabetes, irrespective of whether there are organ complications or not, is reduced to iron excess, repeated for the rest of the patient's life (e.g., dropping 500 ml of blood allows you to get rid of 200-250 mg of iron). How often and in what amounts blood is dropped is an individual matter. It is assumed that in men it is possible to drop 1.5-2 units of blood per week (1 unit=450 ml). In women, this amount is much less. The appropriate frequency of treatments practically stops the progression of the disease. In the case of cirrhosis, a life-saving procedure is an organ transplant.

Brown diabetes (primary haemochromatosis) - diet

Patients who undergo blood loss do not have to exclude foods rich in iron (e.g. meat) from their diets. However, supplementation with this element is not recommended.

Important

Brown diabetes - watch out for alcohol and vitamin C

People with brown diabetes are strictly forbidden to consume alcohol. Ethanol increases the absorption of iron from the gastrointestinal tract and primarily damages the liver. In addition, some types of red wine contain significant amounts of iron.

They should also be careful about the amounts of vitamin C they consume, i.e. do not consume them in amounts greater than the norm. Ascorbic acid increases the toxic effect of iron. Moreoverafter the use of high doses of vitamin C in patients with haemochromatosis, cardiac arrhythmias may occur.

Category:

Genetic diseases