Hemochromatosis was first described as a separate disease in 1889. However, it was only possible to establish the causes of the disease with the development of medical genetics.
Such a fairly late classification contributed to the nature of the disease and its rather limited distribution.
Thus, according to modern data, 0.33% of the world's inhabitants are at risk for the development of hemochromatosis. What causes the disease and what are its symptoms?
Hemochromatosis - what is it?
This disease is hereditary and is characterized by a multiplicity of symptoms and a high risk of serious complications and comorbidities.
Studies have shown that hemochromatosis is most often caused by a mutation in the HFE gene.
As a result of a gene failure, the iron capture mechanism in the duodenum is disrupted.. This leads to the fact that the body receives a false message about the lack of iron in the body and begins to actively and in excess quantities to synthesize a special protein that binds iron.
This leads to excessive deposition of hemosiderin (glandular pigment) in the internal organs. Simultaneously with an increase in protein synthesis, the gastrointestinal tract activates, leading to excessive absorption of iron from food in the intestine.
So even with a normal diet, the amount of iron in the body is many times higher than normal. This leads to the destruction of tissues of internal organs, problems with the endocrine system, and immunity.
Classification by type, form and stage
In medical practice, the primary and secondary types of the disease are divided. In this case, the primary, also called hereditary, is the result of a manifestation of genetic predisposition. Secondary hemochromatosis is a consequence of the development of deviations in the work of enzyme systems participating in the glandular metabolism.
There are four known forms of the hereditary (genetic) type of the disease:
- hereditary HFE-non-associated species;
- autosomal dominant.
The first type is associated with the classic recessive mutation of the sixth chromosome region. This type is diagnosed in the overwhelming majority of cases - more than 95 percent of patients suffer from precisely hemochromatosis.
Juvenile type of disease occurs as a result of a mutation of another gene - HAMP. Under the influence of this change significantly increases the synthesis of hepcidin - the enzyme responsible for the deposition of iron in the organs. The disease usually appears between the ages of ten and thirty years.
HFE-unassociated type develops when the HJV gene fails. This pathology includes a mechanism for hyperactivization of transferrin receptors-2. As a result, hepcidin production is activated. The difference with the juvenile type of the disease lies in the fact that in the first case the gene that is directly responsible for the production of the iron-binding enzyme fails.
Whereas in the second case, a state characteristic of an excess of iron in food is created in the body, which leads to the production of an enzyme.
The fourth type of hereditary hemochromatosis is associated with a malfunction of the SLC40A1 gene.
The disease manifests itself in old age and is associated with improper synthesis of ferroportin protein, which is responsible for transporting iron compounds into cells.
Causes of missense mutations and risk factors
Genetic mutation in the hereditary type of the disease is a consequence of human predisposition.
Studies show that the majority of patients are white residents of North America and Europe, with the greatest number of people suffering from hemochromatosis occurring among people from Ireland.
At the same time, the prevalence of different types of mutations is characteristic for different parts of the globe. Men are subject to the disease several times more often than women. In the latter, symptoms usually develop after hormonal alteration of the body, due to menopause.
Among registered patients, women are 7-10 times less than men. The reasons for the changes are still unclear. Only the hereditary nature of the disease is irrefutably proven, and there is a connection between the presence of hemochromatosis and liver fibrosis.
Despite the fact that the growth of connective tissue cannot be directly explained by the accumulation of iron in the body, up to 70% of patients with hemochromatosis had liver fibrosis.
At the same time, genetic predisposition does not necessarily lead to the development of the disease.
In addition, there is a secondary form of hemochromatosis, which is observed in people with initially normal genetics. Risk factors also include some pathologies. So, postponed steatohepatitis (non-alcoholic adipose tissue deposition), the development of chronic hepatitis of various etiologies, as well as blockage of the pancreas contribute to the manifestation of the disease.
Symptoms of hemochromatosis in women and men
In the past, only the development of a number of serious symptomatic manifestations allowed the diagnosis of this disease.
A patient with excessive accumulation of iron feels chronic fatigue, weakness.
This symptom is characteristic of 75% of people suffering from hematochromatosis. Pigmentation of the skin is enhanced, and this process is not associated with the production of melanin. Dark skin gets due to the accumulation of iron compounds there. Darkening is observed in more than 70% of patients.
The negative effect of accumulated iron on immune cells leads to a weakening of the immune system. Therefore, with the course of the disease, the patient's susceptibility to infections increases - from fairly serious to banal and non-dangerous under normal conditions.
About half of patients suffer from pathologies of the joints, which are expressed in the occurrence of pain syndrome.
There is also a deterioration in their mobility. This symptom occurs because an excess of iron compounds catalyzes calcium deposits in the joints.
Also possible attacks of arrhythmia and the development of heart failure. A negative effect on the pancreas often leads to diabetes. Excess iron causes sweat gland dysfunction. In rare cases, there are headaches.
The development of the disease leads to impotence in men. A decrease in sexual function suggests signs of body poisoning with iron compounds. In women, there may be heavy bleeding during regul.
An important symptom is an increase in the liver, and also - quite severe abdominal pain, in the appearance of which it is not possible to identify the system.
The presence of several symptoms indicates the need for accurate laboratory diagnosis of the disease.
A sign of the disease is a high content of hemoglobin in the blood, with its simultaneous low content in red blood cells. Indicators of transferrin iron saturation below 50% are considered laboratory signs of hemochromatosis.
A significant increase in the liver with a high density of its tissues is also a sign of the disease. In addition, with hemochromatosis, a change in the color of the liver tissue is observed.
How does the child?
Early hemochromatosis has a number of features, from the mutations of the corresponding chromosome regions to the characteristic clinical picture and manifestations that caused it.
First of all, the symptoms of the disease at an early age are polymorphic.
For children, the development of symptoms, indicating the presence of portal hypertension. Developing a violation of the assimilation of food, a simultaneous increase in the spleen and liver.
With the development of pathology, ascites, a dropsy that forms in the abdominal region, begins to be severe and resistant to the therapeutic effects. Characterized by the development of varicose veins of the esophagus.
What tests and diagnostic methods help identify pathology?
To identify the disease using several different laboratory diagnostic methods.
Initially, blood is sampled to study hemoglobin levels in erythrocytes and plasma.
Iron metabolism is also assessed.
The desferal test helps to confirm the diagnosis. For this, an injection of a glandular drug is administered, and after five hours a urine sample is taken. Additionally, CT scan is performed, as well as MRI of internal organs, which allow to determine their pathological changes - an increase in size, pigmentation, and a change in the structure of the tissue.
Molecular genetic scanning allows you to determine the presence of a damaged chromosome region. This study, conducted in the family of a patient, also makes it possible to assess the likelihood of the disease even before the appearance of its clinical manifestations disturbing the patient.
Principles of treatment
The main methods of treatment is the normalization of indications of iron content in the body and the prevention of damage to internal organs and systems. Unfortunately, modern medicine does not know the methods of normalizing the genetic apparatus.
A common treatment is bleeding. With initial therapy, 500 mg of blood is removed weekly. After the normalization of the iron content, the patient goes on to maintenance therapy when blood is taken every three months.
Intravenous administration of iron-binding drugs is also practiced. So, chelators allow you to remove excess matter with urine or feces. However, a short period of action necessitates regular subcutaneous injection of medications with the help of special pumps.
Possible complications and prognosisWith early diagnosis, the disease can be effectively controlled.
The duration and quality of life of patients who receive regular assistance do not practically differ from those of healthy people.
However, late treatment leads to serious complications. These include the development of cirrhosis and liver failure, diabetes, vein damage, and even bleeding.
The risk of developing cardiomyopathy and liver cancer is high, and intercurrent infections are also observed.
About what hemochromatosis is and how to treat it, on the TV show “Live healthy!” With Elena Malysheva: