Approximately one tenth of the population has a predisposition to this disease. In men, hemochromatosis occurs ten times more often.
Causes
The main cause of hemochromatosis is a mutation of the gene responsible for the correct formation of the iron-binding protein. This protein is produced by all body tissues except the brain.
Due to gene mutation protein uptake of iron is impaired. This is perceived as a signal of a drop in the iron content in the body, stimulates increased protein synthesis, which increases the absorption and accumulation of iron.
Such a genetic defect is present in the body from birth, but hemochromatosis usually begins in adulthood when the volume of accumulated iron reaches 30-40 g at a content rate of about 4 g.
Kinds
Primary or hereditary. There is a metabolic disorder, uncontrolled absorption of iron by the cells of the gastrointestinal tract membrane and its deposition in the skin, joints, liver, pancreas, heart, pituitary gland. This leads to cell damage and proliferation connective tissue. This toxicity of iron can be explained by its ability, when oversaturated, to trigger free radical reactions inside cells, leading to damage to organelles, increased collagen formation and the emergence of tumors. These processes occur with the usual intake of iron from food.
Secondary . Develops with increased intake iron in the body. Depending on the reasons, there are types of secondary hemochromatosis:
- post-transfusion (occurs after massive repeated blood transfusions);
- alimentary (accompanies chronic diseases liver);
- metabolic (associated with metabolic disorders in certain diseases - thalassemia, viral, porphyria, pancreatic duct thrombosis, cancer);
- mixed (occurs with some varieties of anemia and thalassemia).
Hemochromatosis can be classified according to other criteria:
- latent with mild symptoms;
- with a developed clinic;
- terminal with signs of decompensation of many organs, exhaustion, frequent bleeding in the gastrointestinal tract.
Forms of hemochromatosis according to the prevailing clinical signs:
- hepatopathic (slowly progressing);
- cardiopathic (rapidly progressing);
- endocrinological (with fulminant course).
Symptoms
It takes several years from the onset of the disease to the onset of severe symptoms. At this time, several stages can be traced:
- A state without an overload of the body with iron.
- Phase of iron overload, but without pronounced symptoms.
- Clearly expressed disease.
The main symptoms at the onset of the disease are weakness, weight loss, fatigue, pain in the liver area, in the joints, in men- the disappearance of libido, but the main symptom will be change in skin color. It becomes pale gray, dry, then darkens more and more until brown (bronze) color. The degree of staining will depend on the duration of the disease.
In the early stages of hemochromatosis, the characteristic symptoms of damage to one of the organs predominate (most often it is), in the future a mixed picture of symptoms appears. 80% of patients have initial signs diabetes - increased thirst and polyuria. Other signs of damage endocrine system- decreased function of the endocrine glands.
This combination - discoloration of the skin, the presence of cirrhosis and diabetes - is called the classic triad in hemochromatosis. Arthropathies develop, more often the joints of the hand, less often - larger joints, accompanied by persistent pain. Joint damage is typical for patients older than 50 years. There are signs of heart damage - arrhythmia,. It is often the cause of death among young patients.
A complication during hemochromatosis will be liver failure. A third of patients develop liver cancer, with age this probability increases. In addition, this includes bleeding from the veins of the esophagus or stomach, increased susceptibility to various infections, and diabetic.
Diagnostics
The diagnosis is established on the basis characteristic symptoms, determining the magnitude of iron metabolism, the results of a biochemical blood test, liver biopsy and genetic analysis.
The most available test to determine iron overload is transferrin saturation index check. If it exceeds the allowable values, then it is necessary to carry out genetic analysis for the presence of a gene mutation.
Treatment
The main direction in treatment is to reduce the amount of iron in the body and prevent the development of complications.
To reduce iron reserves, the following measures are taken:
- bloodletting up to 500 ml at a time, usually once a week;
- exclusion from the diet of foods high in iron;
- control over the intake of vitamin C, its intake should be minimal;
- hemosorption, plasmaphoresis.
In some cases, hemochromatosis is prescribed surgical intervention(cirrhosis or carcinoma of the liver, severe arthropathies).
The degree of effectiveness of treatment is assessed by the amount of iron excreted in the urine (desferal test), by indicators of iron metabolism and blood characteristics.
Prevention
There is no way to prevent hemochromatosis. main role plays as early as possible detection and diagnosis of the disease.
Forecast
With early diagnosis of the disease, before the development of cirrhosis, the prognosis is favorable.
In case of late diagnosis, absence of necessary treatment the prognosis is unfavorable, and life expectancy with this disease does not exceed five years.
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Hemochromatosis
What is Hemochromatosis -
Primary hemochromatosis (PHC) is an autosomal recessive, HLA-associated disease caused by a genetic defect characterized by a metabolic disorder in which there is an increased absorption of iron in the gastrointestinal tract.
What provokes / Causes of Hemochromatosis:
The disease was first described by M. Troisier in 1871 as a symptom complex characterized by diabetes, skin pigmentation, cirrhosis of the liver associated with the accumulation of iron in the body. In 1889, Reclinghausen introduced the term "hemochromatosis", reflecting one of the features of the disease: unusual skin color and internal organs. It was found that iron first accumulates in the parenchymal cells of the liver, and then can be deposited in other organs (pancreas, heart, joints, pituitary gland).
Prevalence. Population genetic studies have changed the idea of PHC as a rare disease. The prevalence of the PHC gene is 0.03-0.07% - so, until recently, 3-8 cases per 100 thousand of the population were observed. Among the white population, the frequency of homozygosity is 0.3%, the frequency of heterozygous carriage is 8-10%. In connection with the improvement of diagnostics, an increase in the incidence is noted. The incidence rate among residents of the European community averages 1: 300. According to WHO, 10% of the population have a predisposition to hemochromatosis. Men get sick about 10 times more often than women.
Pathogenesis (what happens?) during Hemochromatosis:
Normally, the body contains about 4 g of iron, of which g is in the composition of hemoglobin, myoglobin, catalase and other respiratory pigments or enzymes. The reserves of iron are 0.5 g, some of which are in the liver, but they are not visible during histological examination for iron by conventional methods. Fine daily ration human contains about 10-20 mg of iron (90% in free standing, 10% in combination with heme), of which 1-1.5 mg is absorbed.
The amount of absorbed iron depends on its reserves in the body: the higher the need, the more iron is absorbed. Absorption occurs mainly in upper divisions small intestine and is an active process in which iron can be transported further against the concentration gradient. However, the mechanisms of transfer are unknown.
In the cells of the intestinal mucosa, iron is located in the cytosol. Some of it binds and is stored as ferritin, which is subsequently either used or lost as a result of desquamation of epithelial cells. Part of the iron destined for metabolism in other tissues is transported across the basolateral membrane of the cell and binds to transferrin, the main iron transport protein in the blood. In cells, iron is deposited in the form of ferritin, a complex of the protein apoferritin with iron. Accumulations of decayed ferritin molecules are hemosiderin. Approximately one third of the body's iron stores are in the form of hemosiderin, which increases in iron-related diseases.
With hemochromatosis, the absorption of iron in the digestive tract increases to 3.0-4.0 mg. Thus, within 1 year, its excess amount deposited in the cells of the liver, pancreas, heart and other organs and tissues is approximately 1 g. Ultimately, the intra- and extracellular pools of the body become oversaturated with iron, which allows free iron to enter into toxic intracellular reactions. Being a strong redox substance, iron creates free hydroxyl radicals, which, in turn, destroy the macromolecules of lipids, proteins and DNA.
Increased accumulation of iron in the liver is characterized by:
- Fibrosis and cirrhosis of the liver with the initial predominant accumulation of iron in parenchymal cells, to a lesser extent - in stellate reticuloendotheliocytes.
- Deposition of iron in other organs, including the pancreas, heart, pituitary gland.
- Increased absorption of iron, which leads to its adsorption and accumulation.
The disease is associated with the so-called missense mutations, i.e. mutations causing change the meaning of the codon and leading to a stop in protein biosynthesis.
The genetic nature of PHC was confirmed by M. Simon et al. in 1976, who revealed in representatives of the European population a close association of the disease with certain antigens of the major histocompatibility complex. For clinical expression, the patient must have two PHC alleles (homozygosity). The presence of one common HLA haplotype with the patient indicates heterozygous carriage of the PHC allele. Such individuals may have indirect signs indicating an increased iron content in the body, and the absence of clinically significant symptoms. Heterozygous gene carriage prevails over homozygous. If both parents are heterozygotes, a pseudo-dominant type of inheritance is possible. In heterozygotes, iron absorption is usually slightly increased, a slight increase in serum iron is detected, but life-threatening trace element overload is not observed. At the same time, if heterozygotes suffer from other diseases accompanied by iron metabolism disorders, then clinical and morphological signs of the pathological process may appear.
The close relationship of the disease with HLA antigens made it possible to localize the gene responsible for PHC, located on the short arm of chromosome 6, near the A locus of the HLA system and associated with the A3 allele and the A3 B7 or A3 B14 haplotypes. This fact served as the basis for research aimed at its identification.
Hereditary hemochromatosis was originally considered a simple monogenic disease. Currently, according to the gene defect and the clinical picture, 4 forms of PHC are distinguished:
- classic autosomal recessive HFE-1;
- juvenile HFE-2;
- HFE-3 associated with a mutation in the type 2 transferrin receptor;
- autosomal dominant hemochromatosis HFE-4.
Identification of the HFE gene (associated with the development of hemochromatosis) was an important point in understanding the essence of the disease. The HFE gene encodes the structure of a protein consisting of 343 amino acids, the structure of which is similar to the molecule of the MHC class I system. Mutations in this gene have been identified in persons suffering from hemochromatosis. Carriers of the C282Y allele in homozygous state among ethnic Russians, there are at least 1 per 1,000 people. The role of HFE in iron metabolism is evidenced by the interaction of HFE with the transferrin receptor (TfR). The association of HFE with TfR reduces the affinity of this receptor for iron-bound transferrin. With the C282Y mutation, HFE is not able to bind to TfR at all, and with the H63D mutation, affinity for TfR decreases to a lesser extent. The three-dimensional structure of HFE was studied using X-ray crystallography, which gave reason to establish the nature of the interaction between HFE and the 2m light chain, as well as to determine the localization of mutations characteristic of hemochromatosis.
The C282Y mutation leads to a break in the disulfide bond in a domain that is important in the formation of the correct spatial structure of the protein and its binding to 2m. The largest number HFE protein is produced in deep crypts duodenum. Normally, the role of the HFE protein in krypton cells is to modulate transferrin-bound iron uptake. At healthy person an increase in serum iron levels leads to an increase in its uptake by deep crypt cells (the process is mediated by TfR and modulated by HFE). The C282Y mutation can disrupt TfR-mediated iron uptake by cryptic cells and thus falsely signal the presence of low content iron in the body.
Due to the decrease in intracellular iron content, differentiating enterocytes migrating to the top of the villi begin to produce an increased amount of DMT-1, resulting in increased iron uptake. The main link in the pathogenesis is a genetic defect in the enzyme systems that regulate the absorption of iron in the intestine during its normal intake with food. A genetic link with the HLA-A system has been proven. The study of linkage disequilibrium using these markers showed the association of hemochromatosis with Az, B7, Bt4, D6 Siosh D6 S126O.
Further studies in this direction and haplotype analysis suggest that the gene is located between D6 S2238 and D6 S2241. The putative gene for hemochromatosis is homologous to HLA, and the mutation appears to affect a functionally important region. The gene that controls the iron content in the body is located at the A3HLA locus on the 6th chromosome. This gene encodes the structure of a protein that interacts with the transferrin receptor and reduces the affinity of the receptor for the transferrin iron complex. Thus, the mutation of the HFE gene disrupts transferrin-mediated iron uptake by duodenal enterocytes, resulting in a false signal about the presence of low iron in the body, which, in turn, leads to increased production of the iron-binding protein DCT-1 in the villi of enterocytes and how the result is an increased uptake of iron.
Potential toxicity is explained by its ability, as a variable valence metal, to trigger valuable free radical reactions leading to toxic damage to organelles and genetic structures of the cell, increased collagen synthesis and the development of tumors. Heterozygotes show a slight increase in serum iron but no excess iron accumulation or tissue damage.
However, this can happen if heterozygotes also suffer from other diseases accompanied by iron metabolism disorders.
Secondary hemochromatosis often develops against the background of blood diseases, tardive cutaneous porphyria, frequent blood transfusions, and taking iron-containing drugs.
Symptoms of Hemochromatosis:
Peculiarities clinical manifestations:
Clinical manifestations of the disease develop after the onset of adulthood, when iron stores in the body reach 20-40 g or more.
There are three stages in the development of the disease:
- without the presence of iron overload with a genetic predisposition;
- iron overload without clinical manifestations;
- clinical stage.
The onset of the disease is gradual. AT initial stage for a number of years, complaints of severe weakness, fatigue, weight loss, and a decrease in sexual function in men have prevailed. Often there is pain in the right hypochondrium, joints due to chondrocalcinosis of large joints, dryness and atrophic changes in the skin, testicles.
The advanced stage of the disease is characterized by the classic triad. pigmentation of the skin, mucous membranes, cirrhosis of the liver and diabetes.
Pigmentation is one of the frequent and early symptoms of hemochromatosis. Its severity depends on the duration of the process. A bronze, smoky skin tone is more visible on exposed parts of the body (face, neck, HANDS), on previously pigmented areas, in the armpits, on the genitals.
In most patients, iron is primarily deposited in the liver. Liver enlargement is observed in almost all patients. The consistency of the liver is dense, the surface is smooth, in some cases its pain is given to palpation. Splenomegaly is detected in 25-50% of patients. Extrahepatic signs are rare. Pair diabetes occurs in 80% of patients. He is often insulin dependent.
Endocrine disorders are observed in the form of hypofunction of the pituitary, epiphysis, adrenal glands, thyroid gland(1/3 of patients) gonads. Different kinds endocrinopathies occur in more than 80% of patients. most frequent form pathology is diabetes mellitus.
The deposition of iron in the heart with PCH is observed in 90-100% of cases, however, clinical manifestations of heart damage are found only in 25-35% of patients. Cardiomyopathy is accompanied by an increase in the size of the heart, rhythm disturbances, and the gradual development of refractory heart failure.
Perhaps a combination of hemochromatosis with arthropathy, chondrocalcinosis, osteoporosis with calciuria, neuropsychiatric disorders, tuberculosis, tardive cutaneous porphyria.
Allocate latent (including patients with a genetic predisposition and minimal iron overload), with severe clinical manifestations, and terminal hemochromatosis. Hepatopathic, cardiopathic, endocrinological forms are more common: respectively, slowly progressive, rapidly progressive, and a form with a fulminant course.
The latent stage of PHC is observed in 30-40% of patients, which is detected during a family genetic examination of patients' relatives or during population screening. Some of the above persons have an older age group there are minimal symptoms in the form of slight weakness, fatigue, feelings of heaviness in the right hypochondrium, pigmentation skin on open areas of the body, decreased libido, slight hepatomegaly.
The stage of advanced clinical manifestations is characterized by the presence of asthenovegetative syndrome, abdominal pain, sometimes quite intense, arthralgia, decreased libido and potency in 50% of men and amenorrhea in 40% of women. In addition, weight loss, cardialgia and palpitations may be observed. An objective examination reveals hepatomegaly, melasma, pancreatic dysfunction (insulin-dependent diabetes mellitus).
AT terminal stage PHC shows signs of decompensation of organs and systems in the form of the formation of portal hypertension, the development of hepatocellular, as well as right and left ventricular heart failure, diabetic coma, exhaustion. The causes of death of such patients, as a rule, are bleeding from varicose veins of the esophagus, hepatocellular and heart failure, aseptic peritonitis, diabetic coma.
In such patients, there is a predisposition to the development of a tumor process (the risk of its development in people over 55 years of age is 13 times higher than in the general population).
Juvenile hemochromatosis - rare form disease occurs in young age(15-30 years) and is characterized by severe iron overload, accompanied by symptoms of liver and heart damage.
Diagnosis of Hemochromatosis:
Diagnostic features:
Diagnosis is based on multiple organ lesions, cases of the disease in several members of the same family, elevated iron levels, iron excretion in the urine, high concentrations of transferrin, ferritin in the blood serum. Diagnosis is likely in association with diabetes mellitus, cardiomyopathy, hypogonadism, and typical skin pigmentation. Laboratory criteria are hyperferremia, an increase in the transferrin saturation index (more than 45%). Sharply increase the level of ferritin in the blood serum, excretion of iron in the urine (desferal test). After intramuscular injection 0.5 g of desferal iron excretion increases to 10 mg / day (at a rate of 1.5 mg / day), the coefficient of NTJ (iron / FBC) increases. With the introduction of genetic testing into practice, the number of people with hemochromatosis without clinical signs iron overload. Conduct a study for the presence of mutations C282Y/H63D in the risk group for the development of iron overload. If the patient is a homozygous C282Y/H63D carrier, the diagnosis of hereditary hemochromatosis can be considered established.
Among non-invasive research methods, the deposition of a trace element in the liver can be determined using MRI. The method is based on a decrease in the intensity of the signal of the liver overloaded with iron. In this case, the degree of signal intensity decrease is proportional to iron reserves. The method allows you to determine the excess deposition of iron in the pancreas, heart and other organs.
Liver biopsy shows abundant iron deposition. positive reaction Perls. In a spectrophotometric study, the iron content is more than 1.5% of the dry mass of the liver. Importance is given to the quantitative measurement of the level of iron in liver biopsy specimens by atomic absorption spectrometry, followed by the calculation of the hepatic iron index. The index represents the ratio of iron concentration in the liver (in µmol/g dry weight) to the age of the patient (in years). With PHC already in the early stages, this indicator is equal to or exceeds 1.9-2.0 and does not reach the indicated value in other conditions characterized by hemosiderosis of the liver.
In the latent stage of the disease, functional liver tests practically do not change, and according to histological examination, hemosiderosis of the 4th degree, fibrosis of the portal tracts are observed without pronounced signs of inflammatory infiltration.
At the stage of advanced clinical manifestations, histological changes in the liver usually correspond to pigmentary septal or small-nodular cirrhosis with massive deposits of hemosiderin in hepatocytes and less significant in macrophages, bile duct epithelium.
Histological examination in the terminal stage of the disease reveals a picture of generalized hemosiderosis with damage to the liver (by the type of mono- and multilobular cirrhosis), heart, pancreas, thyroid, salivary and sweat glands, adrenal glands, pituitary gland and other organs.
Iron overload has been observed in a number of congenital or acquired conditions from which HHC must be differentiated.
Classification and causes of the development of the state of iron overload:
- Familial or congenital forms of hemochromatosis:
- Congenital HFE-associated hemochromatosis:
- homozygous for C282Y;
- mixed heterozygosity for C282Y/H63D.
- congenital HFE-non-associated hemochromatosis.
- Juvenile hemochromatosis.
- Iron overload in newborns.
- Autosomal dominant hemochromatosis.
- Congenital HFE-associated hemochromatosis:
- Acquired iron overload:
- Hematological diseases:
- anemia due to iron overload;
- thalassemia major;
- sideroblastic anemia;
- chronic hemolytic anemia.
- Hematological diseases:
- Chronic liver diseases:
- hepatitis C;
- alcoholic liver disease;
- nonalcoholic steatohepatitis.
The disease must also be differentiated from blood pathology (thalassemia, sideroblastic anemia, hereditary atransferrinemia, microcytic anemia, tardive cutaneous porphyria), liver diseases (alcoholic liver damage, chronic viral hepatitis, non-alcoholic steatohepatitis).
Treatment of Hemochromatosis:
Features of the treatment of hemochromatosis:
A diet rich in proteins is shown, without foods containing iron.
Bloodletting is the most accessible way to remove excess iron from the body. Usually 300-500 ml of blood is removed with a frequency of 1-2 times a week. The number of phlebotomies is calculated depending on the level of hemoglobin, blood hematocrit, ferritin, and the amount of excess iron. This takes into account that 500 ml of blood contains 200-250 mg of iron, mainly in the hemoglobin of erythrocytes. Bleeding continues until the patient develops anemia mild degree. A modification of this extracorporeal technique is cytapheresis (CA) (removal of the cellular part of the blood with the return of autoplasma to closed loop). In addition to the mechanical removal of blood cells, CA has a detoxifying effect and helps to reduce the severity of degenerative-inflammatory processes. Each patient undergoes 8-10 sessions of CA with a further transition to maintenance therapy using CA or hemoexfusions in the amount of 2-3 sessions for 3 months.
Drug treatment is based on the use of deferoxamine (desferal, desferin), 10 ml of a 10% solution intramuscularly or intravenously by drip. The drug has a high specific activity towards Fe3+ ions. At the same time, 500 mg of Desferal are able to remove 42.5 mg of iron from the body. The duration of the course is 20-40 days. At the same time, cirrhosis, diabetes mellitus and heart failure are treated. The frequently observed anemic syndrome in patients with HCH in the presence of excessive iron content in the liver tissue limits the use of efferent therapy. Our clinic has developed a scheme for the use of recombinant erythropoietin against the background of CA. The drug promotes increased utilization of iron from the depot of the body, due to which there is a decrease in the total reserves of the microelement, an increase in hemoglobin levels. Recombinant erythropoietin is administered at a dose of 25 μg/kg of body weight against the background of CA sessions conducted 2 times a week for 10-15 weeks.
Forecast:
The forecast is determined by the degree and duration of overloads.
The course of the disease is long, especially in the elderly. Timely therapy extends life by several decades. Survival for 5 years in treated patients is 2.5-3 times higher than in untreated patients. The risk of developing HCC in patients with HCC in the presence of liver cirrhosis increases by 200 times. The most common cause of death is liver failure.
Which doctors should you contact if you have Hemochromatosis:
- Gastroenterologist
- Nutritionist
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| Abdominal trauma |
| Abdominal surgical infection |
| oral abscess |
| Adentia |
| alcoholic liver disease |
| Alcoholic cirrhosis of the liver |
| Alveolitis |
| Angina Zhensulya - Ludwig |
| Anesthesia and Intensive Care |
| Ankylosis of the teeth |
| Anomalies of the dentition |
| Anomalies in the position of the teeth |
| Anomalies in the development of the esophagus |
| Anomalies in the size and shape of the tooth |
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| autoimmune hepatitis |
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| Venous occlusive disease of the liver |
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| Viral hepatitis G |
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| Geographic language |
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| Hepatolienal syndrome (hepato-splenic syndrome) |
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| Pharynoesophageal diverticula |
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| Acquired esophageal diverticulum |
| Diverticula of the stomach |
| Diverticula of the lower third of the esophagus |
| Esophageal diverticula |
| Esophageal diverticula |
| Diverticula in the middle third of the esophagus |
| Dyskinesia of the esophagus |
| Dyskinesia (dysfunction) of the biliary tract |
| Liver dystrophies |
| Sphincter of Oddi dysfunction (postcholecystectomy syndrome) |
| Benign non-epithelial tumors |
| Benign neoplasms of the gallbladder |
| Benign tumors of the liver |
| Benign tumors of the esophagus |
| Benign epithelial tumors |
| Cholelithiasis |
| Fatty hepatosis (steatosis) of the liver |
| Malignant neoplasms of the gallbladder |
| Malignant tumors of the bile ducts |
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| Caries |
| Carcinoid |
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| medicinal ulcers |
| cystic fibrosis |
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Hemochromatosis
What is Hemochromatosis -
Primary hemochromatosis (PHC) is an autosomal recessive, HLA-associated disease caused by a genetic defect characterized by a metabolic disorder in which there is an increased absorption of iron in the gastrointestinal tract.
What provokes / Causes of Hemochromatosis:
The disease was first described by M. Troisier in 1871 as a symptom complex characterized by diabetes mellitus, skin pigmentation, cirrhosis of the liver associated with the accumulation of iron in the body. In 1889, Reclinghausen introduced the term "hemochromatosis", reflecting one of the features of the disease: an unusual color of the skin and internal organs. It was found that iron first accumulates in the parenchymal cells of the liver, and then can be deposited in other organs (pancreas, heart, joints, pituitary gland).
Prevalence. Population genetic studies have changed the idea of PHC as a rare disease. The prevalence of the PHC gene is 0.03-0.07% - so, until recently, 3-8 cases per 100 thousand of the population were observed. Among the white population, the frequency of homozygosity is 0.3%, the frequency of heterozygous carriage is 8-10%. In connection with the improvement of diagnostics, an increase in the incidence is noted. The incidence rate among residents of the European community averages 1: 300. According to WHO, 10% of the population have a predisposition to hemochromatosis. Men get sick about 10 times more often than women.
Pathogenesis (what happens?) during Hemochromatosis:
Normally, the body contains about 4 g of iron, of which g is in the composition of hemoglobin, myoglobin, catalase and other respiratory pigments or enzymes. The reserves of iron are 0.5 g, some of which are in the liver, but they are not visible during histological examination for iron by conventional methods. Normally, a person's daily diet contains about 10-20 mg of iron (90% in free standing, 10% in combination with heme), of which 1-1.5 mg is absorbed.
The amount of absorbed iron depends on its reserves in the body: the higher the need, the more iron is absorbed. Absorption occurs primarily in the upper small intestine and is an active process in which iron can be transported further against the concentration gradient. However, the mechanisms of transfer are unknown.
In the cells of the intestinal mucosa, iron is located in the cytosol. Some of it binds and is stored as ferritin, which is subsequently either used or lost as a result of desquamation of epithelial cells. Part of the iron destined for metabolism in other tissues is transported across the basolateral membrane of the cell and binds to transferrin, the main iron transport protein in the blood. In cells, iron is deposited in the form of ferritin, a complex of the protein apoferritin with iron. Accumulations of decayed ferritin molecules are hemosiderin. Approximately one third of the body's iron stores are in the form of hemosiderin, which increases in iron-related diseases.
With hemochromatosis, the absorption of iron in the digestive tract increases to 3.0-4.0 mg. Thus, within 1 year, its excess amount deposited in the cells of the liver, pancreas, heart and other organs and tissues is approximately 1 g. Ultimately, the intra- and extracellular pools of the body become oversaturated with iron, which allows free iron to enter into toxic intracellular reactions. Being a strong redox substance, iron creates free hydroxyl radicals, which, in turn, destroy the macromolecules of lipids, proteins and DNA.
Increased accumulation of iron in the liver is characterized by:
- Fibrosis and cirrhosis of the liver with the initial predominant accumulation of iron in parenchymal cells, to a lesser extent - in stellate reticuloendotheliocytes.
- Deposition of iron in other organs, including the pancreas, heart, pituitary gland.
- Increased absorption of iron, which leads to its adsorption and accumulation.
The disease is associated with the so-called missense mutations, i.e. mutations that cause a change in the meaning of the codon and lead to a stop in protein biosynthesis.
The genetic nature of PHC was confirmed by M. Simon et al. in 1976, who revealed in representatives of the European population a close association of the disease with certain antigens of the major histocompatibility complex. For clinical expression, the patient must have two PHC alleles (homozygosity). The presence of one common HLA haplotype with the patient indicates heterozygous carriage of the PHC allele. Such individuals may have indirect signs indicating an increased iron content in the body, and the absence of clinically significant symptoms. Heterozygous gene carriage prevails over homozygous. If both parents are heterozygotes, a pseudo-dominant type of inheritance is possible. In heterozygotes, iron absorption is usually slightly increased, a slight increase in serum iron is detected, but life-threatening trace element overload is not observed. At the same time, if heterozygotes suffer from other diseases accompanied by iron metabolism disorders, then clinical and morphological signs of the pathological process may appear.
The close relationship of the disease with HLA antigens made it possible to localize the gene responsible for PHC, located on the short arm of chromosome 6, near the A locus of the HLA system and associated with the A3 allele and the A3 B7 or A3 B14 haplotypes. This fact served as the basis for research aimed at its identification.
Hereditary hemochromatosis was originally considered a simple monogenic disease. Currently, according to the gene defect and the clinical picture, 4 forms of PHC are distinguished:
- classic autosomal recessive HFE-1;
- juvenile HFE-2;
- HFE-3 associated with a mutation in the type 2 transferrin receptor;
- autosomal dominant hemochromatosis HFE-4.
Identification of the HFE gene (associated with the development of hemochromatosis) was an important point in understanding the essence of the disease. The HFE gene encodes the structure of a protein consisting of 343 amino acids, the structure of which is similar to the molecule of the MHC class I system. Mutations in this gene have been identified in persons suffering from hemochromatosis. Carriers of the C282Y allele in the homozygous state among ethnic Russians are at least 1 per 1000 people. The role of HFE in iron metabolism is evidenced by the interaction of HFE with the transferrin receptor (TfR). The association of HFE with TfR reduces the affinity of this receptor for iron-bound transferrin. With the C282Y mutation, HFE is not able to bind to TfR at all, and with the H63D mutation, affinity for TfR decreases to a lesser extent. The three-dimensional structure of HFE was studied using X-ray crystallography, which gave reason to establish the nature of the interaction between HFE and the 2m light chain, as well as to determine the localization of mutations characteristic of hemochromatosis.
The C282Y mutation leads to a break in the disulfide bond in a domain that is important in the formation of the correct spatial structure of the protein and its binding to 2m. The greatest amount of HFE protein is produced in the deep crypts of the duodenum. Normally, the role of the HFE protein in krypton cells is to modulate transferrin-bound iron uptake. In a healthy person, an increase in serum iron levels leads to an increase in its uptake by deep crypt cells (a process mediated by TfR and modulated by HFE). The C282Y mutation can disrupt TfR-mediated iron uptake by cryptic cells and thus generate a false signal of the presence of low iron in the body.
Due to the decrease in intracellular iron content, differentiating enterocytes migrating to the top of the villi begin to produce an increased amount of DMT-1, resulting in increased iron uptake. The main link in the pathogenesis is a genetic defect in the enzyme systems that regulate the absorption of iron in the intestine during its normal intake with food. A genetic link with the HLA-A system has been proven. The study of linkage disequilibrium using these markers showed the association of hemochromatosis with Az, B7, Bt4, D6 Siosh D6 S126O.
Further studies in this direction and haplotype analysis suggest that the gene is located between D6 S2238 and D6 S2241. The putative gene for hemochromatosis is homologous to HLA, and the mutation appears to affect a functionally important region. The gene that controls the iron content in the body is located at the A3HLA locus on the 6th chromosome. This gene encodes the structure of a protein that interacts with the transferrin receptor and reduces the affinity of the receptor for the transferrin iron complex. Thus, the mutation of the HFE gene disrupts transferrin-mediated iron uptake by duodenal enterocytes, resulting in a false signal about the presence of low iron in the body, which, in turn, leads to increased production of the iron-binding protein DCT-1 in the villi of enterocytes and how the result is an increased uptake of iron.
Potential toxicity is explained by its ability, as a variable valence metal, to trigger valuable free radical reactions leading to toxic damage to organelles and genetic structures of the cell, increased collagen synthesis and the development of tumors. Heterozygotes show a slight increase in serum iron but no excess iron accumulation or tissue damage.
However, this can happen if heterozygotes also suffer from other diseases accompanied by iron metabolism disorders.
Secondary hemochromatosis often develops against the background of blood diseases, tardive cutaneous porphyria, frequent blood transfusions, and taking iron-containing drugs.
Symptoms of Hemochromatosis:
Features of clinical manifestations:
Clinical manifestations of the disease develop after the onset of adulthood, when iron stores in the body reach 20-40 g or more.
There are three stages in the development of the disease:
- without the presence of iron overload with a genetic predisposition;
- iron overload without clinical manifestations;
- clinical stage.
The onset of the disease is gradual. In the initial stage, for a number of years, complaints of severe weakness, fatigue, weight loss, and a decrease in sexual function in men predominate. Often there is pain in the right hypochondrium, joints due to chondrocalcinosis of large joints, dryness and atrophic changes in the skin, testicles.
The advanced stage of the disease is characterized by the classic triad. pigmentation of the skin, mucous membranes, cirrhosis of the liver and diabetes.
Pigmentation is one of the frequent and early symptoms of hemochromatosis. Its severity depends on the duration of the process. A bronze, smoky skin tone is more visible on exposed parts of the body (face, neck, HANDS), on previously pigmented areas, in the armpits, on the genitals.
In most patients, iron is primarily deposited in the liver. Liver enlargement is observed in almost all patients. The consistency of the liver is dense, the surface is smooth, in some cases its pain is given to palpation. Splenomegaly is detected in 25-50% of patients. Extrahepatic signs are rare. Pair diabetes occurs in 80% of patients. He is often insulin dependent.
Endocrine disorders are observed in the form of hypofunction of the pituitary gland, epiphysis, adrenal glands, thyroid gland (1/3 of patients) and gonads. Various types of endocrinopathies occur in more than 80% of patients. The most common form of pathology is diabetes mellitus.
The deposition of iron in the heart with PCH is observed in 90-100% of cases, however, clinical manifestations of heart damage are found only in 25-35% of patients. Cardiomyopathy is accompanied by an increase in the size of the heart, rhythm disturbances, and the gradual development of refractory heart failure.
Perhaps a combination of hemochromatosis with arthropathy, chondrocalcinosis, osteoporosis with calciuria, neuropsychiatric disorders, tuberculosis, tardive cutaneous porphyria.
Allocate latent (including patients with a genetic predisposition and minimal iron overload), with severe clinical manifestations, and terminal hemochromatosis. Hepatopathic, cardiopathic, endocrinological forms are more common: respectively, slowly progressive, rapidly progressive, and a form with a fulminant course.
The latent stage of PHC is observed in 30-40% of patients, which is detected during a family genetic examination of patients' relatives or during population screening. Some of these persons of the older age group have minimal symptoms in the form of slight weakness, increased fatigue, a feeling of heaviness in the right hypochondrium, pigmentation of the skin in open areas of the body, decreased libido, and slight hepatomegaly.
The stage of advanced clinical manifestations is characterized by the presence of asthenovegetative syndrome, abdominal pain, sometimes quite intense, arthralgia, decreased libido and potency in 50% of men and amenorrhea in 40% of women. In addition, weight loss, cardialgia and palpitations may be observed. An objective examination reveals hepatomegaly, melasma, pancreatic dysfunction (insulin-dependent diabetes mellitus).
In the terminal stage of HCH, signs of decompensation of organs and systems are observed in the form of the formation of portal hypertension, the development of hepatocellular, as well as right and left ventricular heart failure, diabetic coma, exhaustion. The causes of death of such patients, as a rule, are bleeding from varicose veins of the esophagus, hepatocellular and heart failure, aseptic peritonitis, diabetic coma.
In such patients, there is a predisposition to the development of a tumor process (the risk of its development in people over 55 years of age is 13 times higher than in the general population).
Juvenile hemochromatosis is a rare form of the disease that occurs at a young age (15-30 years) and is characterized by severe iron overload, accompanied by symptoms of liver and heart damage.
Diagnosis of Hemochromatosis:
Diagnostic features:
Diagnosis is based on multiple organ lesions, cases of the disease in several members of the same family, elevated iron levels, iron excretion in the urine, high concentrations of transferrin, ferritin in the blood serum. Diagnosis is likely in association with diabetes mellitus, cardiomyopathy, hypogonadism, and typical skin pigmentation. Laboratory criteria are hyperferremia, an increase in the transferrin saturation index (more than 45%). Sharply increase the level of ferritin in the blood serum, excretion of iron in the urine (desferal test). After intramuscular injection of 0.5 g of Desferal, iron excretion increases to 10 mg/day (at a rate of 1.5 mg/day), the coefficient of NTJ (iron/OJSS) increases. With the introduction of genetic testing into practice, the number of individuals with the presence of hemochromatosis without clinical signs of iron overload has increased. Conduct a study for the presence of mutations C282Y/H63D in the risk group for the development of iron overload. If the patient is a homozygous C282Y/H63D carrier, the diagnosis of hereditary hemochromatosis can be considered established.
Among non-invasive research methods, the deposition of a trace element in the liver can be determined using MRI. The method is based on a decrease in the intensity of the signal of the liver overloaded with iron. In this case, the degree of signal intensity decrease is proportional to iron reserves. The method allows you to determine the excess deposition of iron in the pancreas, heart and other organs.
Liver biopsy shows abundant iron deposition, giving a positive Perls test. In a spectrophotometric study, the iron content is more than 1.5% of the dry mass of the liver. Importance is attached to the quantitative measurement of the level of iron in liver biopsy specimens by atomic absorption spectrometry, followed by the calculation of the hepatic iron index. The index represents the ratio of iron concentration in the liver (in µmol/g dry weight) to the age of the patient (in years). With PHC already in the early stages, this indicator is equal to or exceeds 1.9-2.0 and does not reach the indicated value in other conditions characterized by hemosiderosis of the liver.
In the latent stage of the disease, functional liver tests practically do not change, and according to histological examination, hemosiderosis of the 4th degree, fibrosis of the portal tracts are observed without pronounced signs of inflammatory infiltration.
At the stage of advanced clinical manifestations, histological changes in the liver usually correspond to pigmentary septal or small-nodular cirrhosis with massive deposits of hemosiderin in hepatocytes and less significant in macrophages, bile duct epithelium.
Histological examination in the terminal stage of the disease reveals a picture of generalized hemosiderosis with damage to the liver (by the type of mono- and multilobular cirrhosis), heart, pancreas, thyroid, salivary and sweat glands, adrenal glands, pituitary gland and other organs.
Iron overload has been observed in a number of congenital or acquired conditions from which HHC must be differentiated.
Classification and causes of the development of the state of iron overload:
- Familial or congenital forms of hemochromatosis:
- Congenital HFE-associated hemochromatosis:
- homozygous for C282Y;
- mixed heterozygosity for C282Y/H63D.
- congenital HFE-non-associated hemochromatosis.
- Juvenile hemochromatosis.
- Iron overload in newborns.
- Autosomal dominant hemochromatosis.
- Congenital HFE-associated hemochromatosis:
- Acquired iron overload:
- Hematological diseases:
- anemia due to iron overload;
- thalassemia major;
- sideroblastic anemia;
- chronic hemolytic anemia.
- Hematological diseases:
- Chronic liver diseases:
- hepatitis C;
- alcoholic liver disease;
- nonalcoholic steatohepatitis.
The disease must also be differentiated from blood pathology (thalassemia, sideroblastic anemia, hereditary atransferrinemia, microcytic anemia, tardive cutaneous porphyria), liver diseases (alcoholic liver damage, chronic viral hepatitis, non-alcoholic steatohepatitis).
Treatment of Hemochromatosis:
Features of the treatment of hemochromatosis:
A diet rich in proteins is shown, without foods containing iron.
Bloodletting is the most accessible way to remove excess iron from the body. Usually 300-500 ml of blood is removed with a frequency of 1-2 times a week. The number of phlebotomies is calculated depending on the level of hemoglobin, blood hematocrit, ferritin, and the amount of excess iron. This takes into account that 500 ml of blood contains 200-250 mg of iron, mainly in the hemoglobin of erythrocytes. Bleeding continues until the patient develops mild anemia. A modification of this extracorporeal technique is cytapheresis (CA) (removal of the cellular part of the blood with the return of autoplasma in a closed circuit). In addition to the mechanical removal of blood cells, CA has a detoxifying effect and helps to reduce the severity of degenerative-inflammatory processes. Each patient undergoes 8-10 sessions of CA with a further transition to maintenance therapy using CA or hemoexfusions in the amount of 2-3 sessions for 3 months.
Drug treatment is based on the use of deferoxamine (desferal, desferin), 10 ml of a 10% solution intramuscularly or intravenously by drip. The drug has a high specific activity towards Fe3+ ions. At the same time, 500 mg of Desferal are able to remove 42.5 mg of iron from the body. The duration of the course is 20-40 days. At the same time, cirrhosis, diabetes mellitus and heart failure are treated. The frequently observed anemic syndrome in patients with HCH in the presence of excessive iron content in the liver tissue limits the use of efferent therapy. Our clinic has developed a scheme for the use of recombinant erythropoietin against the background of CA. The drug promotes increased utilization of iron from the depot of the body, due to which there is a decrease in the total reserves of the microelement, an increase in hemoglobin levels. Recombinant erythropoietin is administered at a dose of 25 μg/kg of body weight against the background of CA sessions conducted 2 times a week for 10-15 weeks.
Forecast:
The forecast is determined by the degree and duration of overloads.
The course of the disease is long, especially in the elderly. Timely therapy prolongs life by several decades. Survival for 5 years in treated patients is 2.5-3 times higher than in untreated patients. The risk of developing HCC in patients with HCC in the presence of liver cirrhosis increases by 200 times. The most common cause of death is liver failure.
Which doctors should you contact if you have Hemochromatosis:
- Gastroenterologist
- Nutritionist
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Other diseases from the group Diseases of the gastrointestinal tract:
| Grinding (abrasion) of teeth |
| Abdominal trauma |
| Abdominal surgical infection |
| oral abscess |
| Adentia |
| alcoholic liver disease |
| Alcoholic cirrhosis of the liver |
| Alveolitis |
| Angina Zhensulya - Ludwig |
| Anesthesia and Intensive Care |
| Ankylosis of the teeth |
| Anomalies of the dentition |
| Anomalies in the position of the teeth |
| Anomalies in the development of the esophagus |
| Anomalies in the size and shape of the tooth |
| Atresia |
| autoimmune hepatitis |
| Achalasia cardia |
| Achalasia of the esophagus |
| Bezoars of the stomach |
| Disease and Budd-Chiari Syndrome |
| Venous occlusive disease of the liver |
| Viral hepatitis in patients with chronic renal failure on chronic hemodialysis |
| Viral hepatitis G |
| Viral hepatitis TTV |
| Intraoral submucosal fibrosis (oral submucosal fibrosis) |
| Hairy leukoplakia |
| Gastroduodenal bleeding |
| Geographic language |
| Hepatolenticular degeneration (Westphal-Wilson-Konovalov disease) |
| Hepatolienal syndrome (hepato-splenic syndrome) |
| Hepatorenal syndrome (functional renal failure) |
| Hepatocellular carcinoma (hcc) |
| Gingivitis |
| hypersplenism |
| Gingival hypertrophy (gingival fibromatosis) |
| Hypercementosis (periodontitis ossificans) |
| Pharynoesophageal diverticula |
| Hiatus hernia (HH) |
| Acquired esophageal diverticulum |
| Diverticula of the stomach |
| Diverticula of the lower third of the esophagus |
| Esophageal diverticula |
| Esophageal diverticula |
| Diverticula in the middle third of the esophagus |
| Dyskinesia of the esophagus |
| Dyskinesia (dysfunction) of the biliary tract |
| Liver dystrophies |
| Sphincter of Oddi dysfunction (postcholecystectomy syndrome) |
| Benign non-epithelial tumors |
| Benign neoplasms of the gallbladder |
| Benign tumors of the liver |
| Benign tumors of the esophagus |
| Benign epithelial tumors |
| Cholelithiasis |
| Fatty hepatosis (steatosis) of the liver |
| Malignant neoplasms of the gallbladder |
| Malignant tumors of the bile ducts |
| Foreign bodies of the stomach |
| Candidiasis stomatitis (thrush) |
| Caries |
| Carcinoid |
| Cysts and aberrant tissues in the esophagus |
| mottled teeth |
| Bleeding of the upper gastrointestinal tract |
| Xanthogranulomatous cholecystitis |
| Leukoplakia of the oral mucosa |
| Drug-induced liver injury |
| medicinal ulcers |
| cystic fibrosis |
| Mucocele of the salivary gland |
| malocclusion |
| Tooth development and eruption |
| Tooth formation disorders |
| hereditary coproporphyria |
| Hereditary violation of the structure of enamel and dentin (Stenton-Capdepon syndrome) |
| Non-alcoholic steatohepatitis |
| liver necrosis |
| pulp necrosis |
| Emergency conditions in gastoenterology |
| Obstruction of the esophagus |
| Osteogenesis imperfecta of the teeth |
| Examination of patients in emergency surgery |
| Acute Delta Superinfection in Hepatitis B Virus Carriers |
| Acute intestinal obstruction |
| Acute intermittent (intermittent) porphyria |
| Acute violation of the mesenteric circulation |
| Acute gynecological diseases in the practice of a surgeon |
| Acute bleeding from the digestive tract |
| Acute esophagitis |
| Acute alcoholic hepatitis |
| Acute appendicitis |
| Acute apical periodontitis |
| Acute acalculous cholecystitis |
| Acute viral hepatitis A (AVHA) |
| Acute viral hepatitis B (AVHV) |
| Acute viral hepatitis B with delta agent |
| Acute viral hepatitis E (AVHE) |
Hemochromatosis is a painful pathological condition of a person, when an excessive accumulation of an excess amount of iron occurs in the body (organs and tissues), which leads to damage to the liver, joints, skin and general well-being.
For the first time, doctors paid attention to this disease and described it at the end of the nineteenth century as a complex of symptoms, consisting of diabetes mellitus, skin pigmentation, cirrhosis of the liver, which is associated with an excess amount of iron in the body. A little later, it got its name "hemochromatosis", which is a reflection of a certain specific disease factor: pigmentation (coloration) of the skin and internal organs.
Diagnosis of hemochromatosis
Among the features of the diagnosis of hemochromatosis, it should be noted that its basis is the defeat of many organs, cases of illness among family members, the identification of an excess amount and other possible signs. Diagnosis of hemochromatosis is likely with concomitant diabetes mellitus, hypogonadism, cardiomyopathy, and characteristic skin pigmentation.
results laboratory research that can serve to make a diagnosis are hyperferremia (excessive iron content in the body), high saturation with strasferrin, that is, a protein that is responsible for the transport of protein in the blood plasma, an increased content of ferriton in the blood, and increased excretion of iron along with urine.
As a rule, hemochromatosis is diagnosed by a gastroenterologist. To begin with, he will need to study the history of the disease and family history. A careful study of family history is necessary because the disease is genetic in nature. Also, this diagnosis provides for an assessment of the patient's complaints. It is possible that at some stage of the diagnosis it will be tedious to resort to a consultation with an endocrinologist. To diagnose hemochromatosis, doctors may be assigned to undergo the following procedures and studies:
- Blood tests. The patient needs to pass a general and biochemical blood tests, as well as an analysis of the level of sugar in the blood, as it is not uncommon that hemochromatosis is accompanied by diabetes mellitus.
- Ultrasound procedure. AT medical practice for the diagnosis of hepatic lesions rarely do without ultrasound of the organs abdominal cavity. This also applies to the case of diagnosing hemorrhomatosis. With this procedure, the doctor can have an idea of the degree of liver damage.
- Biopsy. This procedure is performed to detect accumulations of excessive amounts of iron by staining for iron the test sample of liver tissue, which is collected by doctors with a thin needle.
- MRI. This method is used to determine the deposition of a trace element in the liver, that is, the amount of iron deposited there. If the organ is overloaded with iron, then the intensity of its signal to the apparatus decreases. Also, MRI makes it possible to detect accumulations of excess masses of iron in the pancreas, heart and other organs.
AT modern medicine genetic testing, which allows to detect hemochromatosis in people without signs of clinical iron overload, has achieved diagnostic methods. Testing is done to detect mutations in the C282Y and H63D genes. If during genetic testing it turns out that a person has such genes, then the diagnosis of hemochromatosis is considered established.
Causes
Since the disease is genetic in nature, the cause of the development of the disease lies in the "defective" genes, namely in the process of their mutation:
- C282Y gene. When this gene is mutated, cysteine is replaced by tyrosine, as well as a violation in the construction of the protein structure, as well as a failure in the mechanism of iron uptake by the HFE protein, which leads to increased uptake of iron by the body and its accumulation.
- H63D gene. The mutation of this gene implies the replacement of histidine with aspartate.
Pathogenesis
In the body of a healthy person, the mass of iron becomes approximately three to four grams. If hemochromatosis develops in pathological condition this figure rises to twenty or thirty grams. According to medical data, the daily dose of iron in the diet correlates from ten to twenty milligrams, of which the body absorbs about one to two milligrams maximum. Iron is absorbed through absorption, which occurs to a greater extent in the upper small intestine. The further path that iron passes to other organs and tissues is not yet known to physicians.
Hemoromatosis disease provokes intense absorption of iron by the organs of the gastrointestinal tract. According to medical research, within one year in the body (liver, heart, tissues, etc.) of the patient, the mass of accumulated excess iron is one gram. The process of accumulation of iron occurs over the years, during which there is a supersaturation of the organs and tissues of the body with iron. And an excess amount of iron tends to enter into intracellular toxic reactions, as a result of which proteins, lipids and the structure of DNA are destroyed.
Symptoms
The symptomatology of hemochromatosis becomes strikingly remarkable when the concentration of iron in tissues and organs reaches a total mass of twenty to forty grams, that is, already in adulthood: at forty to sixty years in men, and even later in women.
Hemochromatosis has a gradual development. AT early stage development, patients for years can feel remarkable fatigue and weakness, observe weight loss, and men - sexual dysfunction. Also at this stage of the disease, excruciating pains in the joints and right hypochondrium can occur, the skin undergoes atrophic changes and dryness, and in men - the testicles. Developed hemochromatosis has classic symptoms for physicians, consisting of three components - pigmentation of the mucous membranes and skin, diabetes and cirrhosis of the liver.
Pigmentation. In cases of diagnosing hemosramatosis, according to medical statistics, pigmentation is the first and most common symptom of it. The severity of pigmentation depends on how long the disease has been developing. In places that have already experienced pigmentation - hands, face and neck, the skin acquires a more pronounced smoky-bronze tint, as well as pigmentation with hemochromatosis
affects the genitals and armpits.
In most cases, physicians diagnose the deposition of excess masses of iron in the liver. At the same time, there is an increase in its size, tissue compaction, the surface becomes smooth. Possible pain on palpation.
Often, the development of hemochromatosis is accompanied by pathologies of the endocrine system (hyperfunction of the adrenal glands, pituitary gland, thyroid gland, epiphysis and gonads).
Forms of the stage of the disease
On the this moment Doctors have identified two forms of hemochromatosis:
- . This form is characterized by a genetic factor of occurrence. Its development provokes a gene mutation on the sixth chromosome.
- Secondary hemochromatosis. The secondary form of hemochromatosis develops due to excessively large amounts of iron entering the body. The reason for this may be frequent blood transfusions and an overdose of iron-containing drugs. medicines. It may be that secondary hemochromatosis develops as a complication of certain blood diseases.
Treatment of hemochromatosis
The foundation of the treatment of hemochromatosis consists of the removal of an excessive mass of iron trace elements from the patient's body. Further actions of physicians in the treatment of hemochromatosis are to restore, if possible, and stimulate normal operation diseased organs and tissues.
The most efficient and a simple means to remove excess iron from the body, a bloodletting procedure (phlebotomy, venesection) is considered. Its essence lies in the fact that the surface of the vein is temporarily dissected in order to release from it about two hundred, and a maximum of five hundred milliliters of blood. This procedure is carried out once or twice a week, and the whole course lasts about a couple of years until the iron content in the patient's body does not stabilize. Bloodletting has many advantages: it removes excess iron from the body, reduces the degree of skin pigmentation and enlargement of the liver, and improves general state sick.
To remove excess iron from the body, there is also a special group medications- iron-binding. Their name is a reflection of their properties - they are able to chemically attract iron to themselves, bind to it and, as a result, remove it from the body along with them.
An important factor in the treatment of hemochromatosis is diet. A patient with hemorrhomatosis should be limited in daily diet foods high in iron (meat, apples, pomegranates and cereals), vitamin C and ascorbic acid which enhances iron absorption. Overly protein foods also fall under the restriction. You will absolutely have to give up the use of alcoholic beverages, which aggravate the damage to an already diseased liver.
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