Hemochromatosis - a disease that is most often associated with genetically transmitted disorders.Due to certain defects in the genetic code of an organism failures occur in the processes of absorption and processing of iron: it is absorbed into the elevated quantity and deferred throughout the organ structures.Of course, such an excessive deposition of completely unnecessary substances there is a malfunction in the damaged organs.
Hemochromatosis is a serious disease.It is found quite rarely in the 1,000-hemochromatosis gene carriers, it will appear only in about 3 or 4 people.Since a system for hemochromatosis, then it will suffer the most important organs.The constant increase in iron concentration and the emergence of its "storage" in the organs could end very badly: develop failure of either organ.
Like many diseases, hemochromatosis can be divided into primary (also known as hereditary hemochromatosis or idiopathic) and secondary (occurs as
Primary hemochromatosis (also known as idiopathic hemochromatosis) is the main varieties of the disease.The reasons that trigger the appearance of its purely genetic.An error occurs in specific chromosomal locations and the human body begins to absorb excessive amounts of iron.For comparison, it must be said that the norm in the human body by using cells of the small intestine is absorbed about 3 grams of iron daily.If hemochromatosis, this figure increases to twenty times.
As a result, the body has somewhere to dispose of excess iron, which is not used them for metabolic purposes.As in nature, the body goes on the most simple way: an excessive amount of a substance he just turns to fat.In the case of hemochromatosis iron deposits occur.If to be more precise, the iron is absorbed by cells of the small intestine and gradually transform into hemosiderin pigment.Unnecessary body of the amount of this pigment and will clog the cell bodies.
most common bodies where the body will hide the excess amount of iron will become liver, and behind it and the pancreas.In addition to the above bodies, and excessive iron will gradually fill up the heart muscle.Of course, the alien "deposits of iron" in the organs will not be a positive impact on the work of these bodies.Worse, the deposition of excess iron is gradually destroying the cells.Later, in place of the lost cells grows connective tissue, trying to replace the dead structure.
important to know that hemochromatosis is the so-called "disease of accumulation", in other words hemochromatosis manifest only when the body will be present a certain amount of excess iron deposition launch or changes in the organs.Therefore, one of the classic symptoms of hemochromatosis will need a fairly long-term course for a full disclosure of the developed clinical picture (sometimes the development of hemochromatosis may be delayed for a decade).
Secondary options hemochromatosis usually appear in advanced cirrhosis.The mechanism of occurrence of this type of hemochromatosis is due to the fact that the damaged cirrhotic liver can not synthesize the important stuff - transferrin.This material is based vehicles, which delivers iron in those places where it is necessary to synthesize various novel structures and cells (e.g., new erythrocytes).Since there is nothing to transport the iron, or the amount of substance - transport is insufficient, then gradually increase the amount of iron, the body will try to "hide" the unused iron and there is a picture already familiar hemochromatosis.
also caused secondary hemochromatosis can develop from the constant use of alcohol.Alcohol very well stimulate iron uptake in the cavity of the small intestine, and can spur the emergence of hereditary hemochromatosis.By the way, most often when they want to say about the possible presence of hemochromatosis in a patient, it is a priori imply hereditary hemochromatosis.Secondary hemochromatosis do not appear as often when compared with inherited types.
have hemochromatosis symptoms directly related to the authorities that the accumulated damage there, "iron" deposits.By the way, another interesting fact: most of hemochromatosis clinically starts to flare up somewhere around forty years of age (on the causes of such a trend has been written above: the whole point in time the accumulation of unnecessary iron).It also plays an important role gender: men make up the bulk of patients with hemochromatosis.Women save their functional features: each month with menstruation can leave a certain amount of excess iron.
When "cluttering" the liver gemosiderinovymi deposits may appear brightest clinic cirrhosis.This is understandable: the hemochromatosis liver is the capacity to keep dropping unwanted body iron, which adversely affects its components.Developing hemochromatosis liver.
gradually disappear damaged liver cells.They are trying to replace the connective tissue.Because of these processes, the liver loses its shape, gradually decreasing in size, and a sufficient level of its functions.There are all the "charms" of cirrhosis: the appearance of ascites, the heyday of portal hypertension, and dangling the threat of death from bleeding from esophageal varices.
When the same is subjected to damage the pancreas, the result is no less lamentable.Because of constant deposits of iron die among the most important for the body and life of cells - cells of the pancreas.Gradually disappear in cells that are engaged in a constant synthesizing insulin.As a result, hemochromatosis can run secondary occurrence of diabetes and all its consequences.By the way, one of the names of hemochromatosis, namely "bronze" diabetes, it emerged from this clinical manifestation.
This characteristic bronzovaty shade hemochromatosis patients appears because the top layer of the skin accumulates all the same notorious hemosiderin.And it turns out the whole palette of shades of bronze in the skin of patients from smoky to deep - bronze color.
Best of all these color effects are manifested in open areas of the body, face and hands.A more detailed examination of this painting can be found in the armpits and the external genitals.
When hemochromatosis damaged heart muscle cell layer, there will be gemohromatoznaya cardiomyopathy.It will be shown that the chambers of the heart are stretched, the heart will grow in size.These changes will start permanent arrhythmias and become well-known cause of heart failure.This is one of the most terrible manifestations of hemochromatosis.If it is not correct medication, then it will cause heart failure mortality in patients with hemochromatosis (somewhere around 37% of patients).
As described above, hemochromatosis is a disease with a high continuous flow.The average period of the disease is around 15-20 years.It is important to know that the life expectancy of patients will depend on the onset of cirrhosis.Once there were signs of it, the average patient hemochromatosis can live somewhere else for about 10 years.
The first examination of the patient on the likelihood of having had hemochromatosis always begin with a study of its heredity.Also, to study possible genetic lesions, using careful questioning of the patient and family history collection.
Then proceed to a blood test.One of the important signals that may be present in a human hemochromatosis will increase the level of iron in the serum (usually when it is exceeded the value of 38 mol / L) in the biochemical analysis.Also in the same analysis for the presence of hemochromatosis cause to reflect a significant increase in ferritin (there are alarming indicators are the following: 200 mmol / l or more).
In urinalysis sign hemochromatosis will be excessive secretion of urine from the kidneys of iron from 10 to 20 milligrams for one day (normal iron content in the urine up to 2 mg).
also shown special studies: puncture of the sternum (sternal puncture), and a biopsy of the skin flap.
Such research as sternal puncture to confirm the diagnosis of hemochromatosis likely when the obtained will be determined punctate high content of iron levels.For skin biopsy in hemochromatosis is characterized by a large deposition of melanin pigment.
Another striking diagnostic feature of hemochromatosis is the so-called "trial of the increased urinary excretion of iron" or desferalovaya sample.The procedure for this test is as follows: the patient is administered by intramuscular injection a special ingredient - Desferal.This substance is able to bind to excessive iron-containing pigment and excreted from the body through the kidneys.Positive symptoms of hemochromatosis in the selection of the sample is within a day after the injection of iron in the urine in amounts greater than 2 milligrams.
good helper to identify and hemochromatosis will be instrumental methods: ultrasound of the liver and pancreas.
Since hemochromatosis is primarily a disease of genetic type, treatment aimed directly at the root cause of its occurrence is no more.But it developed a set of measures aimed at reducing clinical symptoms, reduce the risk of complications and alleviate the patient's condition.This set includes a special diet, methods for extracorporeal blood filtration, drug preparations, microsurgical manipulation.
hemochromatosis diet plays an important role in the treatment of the patient.Completely removed from the diet of those foods that are donors of iron for the human body.To a greater extent this applies to meat products.Patients with hemochromatosis is strictly prohibited the use of alcohol in any amount (the mechanism of action of alcohol on the high content of iron in the body discussed above).
One of the most effective methods for the relief of the development of hemochromatosis is phlebotomy.Thanks to it, the body is significantly reduced level of excess iron substances.In patients with hemochromatosis average frequency of this procedure will be approximately 2 times a week.Usually one procedure produced an average for her blood volume (about 450 ml).
But more often bleeding schedule is made individually for each patient hemochromatosis.Taking into account indicators of excess iron, hemoglobin levels at the start of procedures.Most often, these procedures will be carried out as long as the tests do not show the presence of the patient's anemia 1st (mild) degree.
Another method of cleansing the body of excess iron is a more modern procedure tsitofereza.During this procedure, the blood will pass on a special closed circuit with its subsequent return to their bloodstream.But this part of the blood is removed, most often it is taken away cellular constituents and plasma do not touch.On average, they spend about 10 such procedures a single cycle.
After the above procedures can be used as the introduction of drugs that bind to and remove iron from the body.More often here will be used Desferal as droppers.Desferal and its derivatives are so-called "chelate" drugs.Their chemical formula is similar to the two claws that grab and display toxic substances.
is important to know that the beginning of the treatment of hemochromatosis will directly depend on the appearance of its clinical manifestations: the more they will be more pronounced, the stronger the drug support.