Increased iron in the blood with hemochromatosis. Primary hemoromatosis. Pathological changes occurring in the body

Hemochromatosis is a hereditary (genetic) disease associated with improper absorption of iron. This microelement is absorbed too intensively from the intestines, resulting in its excess. The metal accumulates in the heart muscle and pancreas. The liver is especially overloaded. As a result of the accumulation of excess iron, organs are damaged and their cells are unable to perform their functions.

What is hemochromatosis

Hemochromatosis, or, as it is also called, bronze diabetes, is a very rare genetic disease. Hemochromatosis is a hereditary multisystem disease that occurs due to the uncontrolled accumulation of excess iron in the human body.

The first symptoms usually appear after 40 years. Mostly men are affected. The disease is caused by serious changes in the body and, if not treated in a timely manner, leads to serious consequences.

Causes and types of pathology

There are primary and secondary hemochromatosis. The main type of this disease is hemochromatosis type 1 (also called idiopathic hemochromatosis). Pathology develops as a result of a genetic disorder. Human organs begin to accumulate iron. The iron content in the body increases to 20 g with a norm of 3-4 g. Excess substance is deposited in the organs, turning into the hemosiredin pigment, which clogs the cells.

Secondary hemochromatosis exists in the following varieties:

post-transfusion – occurs after a blood transfusion;
metabolic - associated with metabolic disorders due to thrombosis of the pancreatic duct, thalassemia, in which there is a disruption in the synthesis of one of the chains of protein molecules in hemoglobin, cancer;
nutritional – accompanies chronic liver diseases;
mixed - with symptoms occurring in various types of anemia and thalassemia.

Symptoms of hemochromatosis

Primary hemochromatosis is caused by symptoms associated with elevated iron concentrations and its accumulation in the liver, pancreas, and heart muscle. The disease has clinical manifestations:

constant weakness and fatigue;
sudden weight loss;
excessive pigmentation of the skin, including in places that do not sunbathe (armpits, feet), as well as in places of old scars;
diabetes;
heart failure, arrhythmia;
decreased sex drive.
hair loss;
nail deformation.

Symptoms also vary by gender. Thus, men often experience impotence and testicular atrophy. Women experience infertility and amenorrhea.

Diagnostic methods

Diagnosis of hemochromatosis begins with an examination of hereditary factors: whether any of the relatives had similar symptoms.

Next, a biochemical blood test is prescribed. An important symptom indicating hemochromatosis is an increase in the concentration of iron in the blood. In the same biochemical study, it is necessary to pay attention to the concentration of transferrin, which also indicates the presence or absence of hemochromatosis.

Transferrin is a protein whose function is to transport iron in the blood. Low or, conversely, high levels of it become a cause for concern, as they indicate a possible disease.

Gives a real forecast of the state of the body. The iron content in the biopsy specimen is determined by puncture. The higher the concentration, the worse the survival prognosis.

The hereditary nature of hemochromatosis is determined during a molecular genetic examination.

Instrumental tests are added to laboratory studies:

Ultrasound of the abdominal organs;
EchoCG;
MRI of the liver;
radiography of joints.

Treatment of hemochromatosis

Since hereditary hemochromatosis is a genetic disease, there is no therapy that can eliminate the cause. However, there are other techniques that reduce or even eliminate symptoms, prevent complications and improve the condition of patients. Treatment is carried out in a complex that includes blood filtration techniques, medications, and a special diet.

Drugs

Medicines used to get rid of excess iron contain deferoxamine. It binds iron ions and removes them in the urine. A drug often used to eliminate the symptoms of the disease is Desferal. It is administered in courses by drip, intravenously and intramuscularly.

Symptomatic treatment is also prescribed, with the help of which the symptoms of diabetes mellitus are eliminated and the heart is supported.

Bloodletting

The most effective way to prevent the symptoms of hemochromatosis is bloodletting (phlebotomy). The procedure reduces the content of excess iron in the body. The method is applied 2 times a week. During one bloodletting, about 450 ml of blood is released. Treatments should be continued until symptoms of mild anemia appear. This treatment of hemochromatosis continues for 2-3 years.

Diet and lifestyle

A healthy diet for hemochromatosis should be part of treatment. Iron-containing foods are removed from the diet. Completely exclude seafood and limit meat. The diet is limited to flour, including black bread.

Drinking even minimal amounts of alcohol is prohibited. Smoking significantly complicates the course of the disease.

Drinking black tea and coffee is allowed. They contain a substance called tannin, which slows down the absorption of iron by the body. Therefore, if you had to eat dishes with a high content of this metal, you can wash them down with tea or coffee, as well as milk.

Extracorporeal methods of hemocorrection

Symptoms of excess iron are eliminated using the latest cytopheresis procedure. The blood is sent through a separate channel. At the same time, a change occurs in its enzymatic and cellular composition and purification from harmful substances, including:

toxins;
antibodies;
metabolic breakdown products;
excess cholesterol.

Liver hemochromatosis is included in the list of indications for extracorporeal hemocorrection. All methods of hemocorrection have their own characteristics:

Lymphocytopheresis. Lymphocytes are extracted from the blood and activated by cytokine proteins. The method helps relieve chronic inflammation.
Plasmapheresis. After blood is collected, it is divided into elements and plasma. The plasma is cleaned of toxins and metabolic products and returned to its place.
Photophoresis. Blood components are exposed to ultraviolet rays.
Immunosorption. The blood is passed through the immunosorbent. This removes antibodies and antigens.
Cryoapheresis. The procedure is similar to plasmapheresis. Excess iron and toxic products are removed from the cooled plasma.

Surgical treatment

The complex liver damage that often occurs in patients with hemochromatosis leaves them with little hope for life. The only way a person can live for some more time is a transplant. Liver transplantation is a complex and expensive operation. After surgery, unwanted symptoms may appear. Therefore, doctors try to cure the patient with medications and procedures, without using drastic methods.

Traditional and alternative methods

Traditional methods of therapy cannot reduce the percentage of iron in the body, but they can eliminate some painful symptoms.

Herbs and medicinal mixtures are used only for auxiliary treatment. Traditional recipes, like conventional medicines, are not without contraindications, so before treatment it is strongly recommended to consult a specialist.

Possible recipes:

To prepare a medicinal collection, you need to collect the grass of budra, dubrovnik, white acacia and black elderberry flowers. Mix together 1 tbsp. l. each ingredient, pour 0.5 liters of boiling red wine. Leave the mixture for 2 hours, then strain and drink 50 ml 3 times a day.
Mix equal parts of burdock roots, blueberry leaves, centaury, dubrovnik, sage and knotweed herbs together and brew 2 tbsp in 1 liter of boiling water. collection Leave for about 3 hours, then strain. Add 3 tbsp. natural honey and drink 1 glass 3 times a day.
Another useful remedy against the symptoms of hemochromatosis is a collection of wormwood, walnut leaves, cherry fruits, black mulberry herbs, yarrow, and boxwood. All herbs need to be crushed, brew 2 tbsp in 1 liter of boiling water. Strain, cool. Take half a glass 3 times a day.

Consequences for the body

In the early stages, the disease does not produce pronounced symptoms. Patients usually complain of fatigue and malaise. As the amount of iron in the body increases, more and more alarming symptoms appear.

Hemochromatosis is characterized by a triad of symptoms:

cirrhosis;
excessive skin coloring;
hormonal disorders.

The liver is primarily affected by excess iron in the body. Hemochromatosis can provoke. Hepatocytes (liver cells) die, which causes malfunction of the organ. It stops fulfilling its tasks of neutralizing toxic substances. This leads to general intoxication of the body, extensive liver damage and, above all, cirrhosis.

Complications of hemochromatosis include symptoms such as rhythm disturbances and other abnormalities in the functioning of the heart.

Symptoms are observed in the form of atypical skin color, which appears as a result of the deposition of hemosiderin, a dark yellow substance. Bronze pigment covers the skin of the face, hands, armpits, and external genitalia.

40% of patients develop symptoms of arthralgia – joint pain. Body mobility is gradually limited.

Prognosis and prevention

The prognosis of the disease correlates with the level of accumulated iron and the capabilities of the human body. Hemochromatosis is characterized by a continuously progressive course. Without treatment, symptoms increase and irreversible changes occur. The prognosis without treatment is unfavorable.

However, modern medicine can prolong the life of patients. With an uncomplicated course of the disease, most live more than 10 years.

Prevention of increased symptoms of hemochromatosis includes:

balanced diet, restriction in the diet of foods containing iron and large amounts of protein;
giving up alcohol and nicotine;
taking medications prescribed by a doctor;
treatment of diseases of the digestive organs and blood when the first symptoms appear.

Since the symptoms of hemochromatosis are often vague, annual preventive visits to your doctor should not be neglected.

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The disease may manifest as systemic symptoms, liver disease, cardiomyopathy, diabetes, erectile dysfunction, and arthropathy. Diagnosis is based on serum ferritin levels and gene analysis. It is usually treated with phlebotomy.

Causes of primary hemochromatosis

Until recently, the cause of the disease in almost all patients with primary hemochromatosis was considered to be a mutation in the HFE gene. Other causes have recently been discovered: various mutations leading to primary hemochromatosis and occurring in ferroportin diseases, juvenile hemochromatosis, neonatal hemochromatosis (iron storage disease of newborns), hypotransferrinemia and aceruloplasminemia.

More than 80% of HFE-related hemochromatoses are caused by interference of homozygous C282Y or C282Y/H65D heterozygous mutations. The disease is autosomal recessive, with a homozygous frequency of 1:200 and a heterozygous frequency of 1:8 in people of Northern European descent. The disease rarely occurs in black people and people of Asian descent. 83% of patients with clinical hemochromatosis are homozygous. However, for unknown reasons, the phenotypic (clinical) disorder is observed much less frequently than predicted by gene frequency (i.e., many homozygous individuals do not report the disorder).

Pathophysiology of primary hemochromatosis

The normal level of iron in the human body is 2.5 g in women and 3.5 g in men. Hemochromatosis cannot be diagnosed until the total body iron content exceeds 10 g, and most often even several times more, since symptoms may be delayed until iron accumulation becomes excessive. In women, clinical manifestations are rare before menopause, since the body tends to compensate for iron losses associated with menstruation (and sometimes pregnancy and childbirth) by storing iron.

The mechanism of iron overload is increased absorption of iron from the gastrointestinal tract, which leads to chronic accumulation of iron in tissues. Hepcidin, a peptide synthesized in the liver, is a critical mechanism for controlling iron absorption. Hepcidin, together with the normal HFE gene, prevents excessive iron absorption and accumulation in normal people.

In most cases, tissue damage occurs due to exposure to free hydroxyl radicals, which are formed when the deposition of iron in tissues catalyzes their structure. Other mechanisms may affect specific organs (for example, skin hyperpigmentation may result from increased melanin as well as iron accumulation).

Symptoms and signs of primary hemochromatosis

The consequences of iron overload remain the same regardless of the etiology and pathophysiology of the overload.

Doctors believe that symptoms do not appear until organ damage occurs. However, organ damage occurs slowly and is difficult to detect. Fatigue and nonspecific systemic symptoms usually occur initially.

Other symptoms are related to the functioning of organs with large accumulation of iron. In men, the initial symptoms may be hypogonadism and erectile dysfunction caused by gonadal iron accumulation. Impaired glucose tolerance or diabetes mellitus are also early signs. Some patients develop hypothyroidism.

Cardiomyopathy with heart failure is the second most common cause. Hyperpigmentation (diabetes bronze) is common, as is symptomatic arthropathy.

General manifestations of primary hemochromatosis

Diagnosis of primary hemochromatosis

Serum ferritin level.
Genetic tests.

Symptoms and signs may be non-specific, subtle and gradual, so you should be wary. Primary hemochromatosis should be suspected when typical manifestations of diseases, in particular combinations of such manifestations, remain unexplained after a preventive examination. Although a family history is a more specific answer, it is usually not presented.

Elevated ferritin levels (>200 ng/ml in women and >300 ng/ml in men) can usually be seen in primary hemochromatosis, but can also be a consequence of other disorders such as inflammatory liver diseases, cancer, and some systemic inflammatory diseases (eg, reflex anemia, hemophagocytic lymphohistiocytosis) or obesity. Follow-up tests are performed if ferritin levels are outside the normal range. They aim to assess serum iron levels (typically >300 mg/dL) and iron binding capacity (transferrin saturation; levels typically >50%). Genetic testing is performed to identify primary hemochromatosis caused by mutations in the HFE gene. In very rare cases, other types of primary hemochromatosis (eg, ferroportin diseases, juvenile hemochromatosis, neonatal hemochromatosis, transferrin deficiency, ceruloplasmin deficiency) are suspected in which ferritin and blood iron tests indicate iron overload and genetic test results indicate a gene mutation HFEs are negative, especially in younger patients. Confirmation of such diagnoses is progressing.

Because the presence of cirrhosis affects the prognosis, a liver biopsy is usually done and the iron content of the tissue is measured (if possible). High intensity MRI is a non-invasive alternative for assessing liver iron content (high accuracy).

For first-degree relatives of people with primary hemochromatosis, screening tests for serum ferritin levels and testing for the 282Y/H63D gene are necessary.

Treatment of primary hemochromatosis

Phlebotomy (bloodletting).

Patients with clinical manifestations of the disease, elevated serum ferritin levels, or increased transferrin saturation require treatment. Asymptomatic patients require periodic (eg, annual) clinical examinations.

Phlebotomy delays the progression of fibrosis to cirrhosis, sometimes even reverses cirrhotic changes and prolongs life, but does not prevent hepatocellular carcinoma. Approximately 500 ml of blood is removed weekly until serum iron levels are normal and transferrin saturation is normal.<50%. Еженедельная флеботомия может быть необходима в течение многих месяцев. Для поддержания сатурации трансферина на уровне <30% при нормальном уровне железа, можно проводить периодические флеботомии.

Diabetes, cardiomyopathy, erectile dysfunction and other secondary manifestations are treated as indicated.

Patients should adhere to a balanced diet; there is no need to limit the consumption of iron-containing foods (for example, red meat, liver). Alcohol can be consumed only in moderation, because... this may increase iron absorption and increase the risk of cirrhosis.

Juvenile hemochromatosis

Juvenile hemochromatosis is a rare autosomal recessive disorder caused by a mutation in the HJV gene, which affects the transcription of the hemojuvelin protein. This often occurs in teenagers. Ferritin level >1000 ng/ml, and transferrin saturation >90%.

Transferrin receptor gene mutations

Mutations in transferrin receptor 2, a protein that appears to control transferrin saturation, can cause rare autosomal recessive forms of hemochromatosis. Symptoms and signs similar to HFE hemochromatosis.

The site provides reference information for informational purposes only. Diagnosis and treatment of diseases must be carried out under the supervision of a specialist. All drugs have contraindications. Consultation with a specialist is required!

Introduction

Hemochromatosis is a genetic disease in which a disorder of iron metabolism occurs with its excessive accumulation in the liver, heart, pancreas and pituitary gland.

Prevalence

Hemochromatosis is one of the most common genetic diseases. Most cases of the disease have been reported in northern Europe. The prevalence of the hemochromatosis gene (homozygous) is 5% in the population. The disease itself occurs in 0.3% of the population. The ratio of the disease in men to women is 10:1. In 70% of cases, the first symptoms of the disease appear between the ages of 40 and 60 years.

Anatomy and physiology of the liver

With hemochromatosis, the liver, which is involved in iron metabolism, is most often affected.

The liver is located under the right dome of the diaphragm. At the top, the liver is adjacent to the diaphragm. The lower border of the liver is at the level of the 12th rib. Below the liver is the gallbladder. The weight of the liver in an adult is approximately 3% of body weight.

The liver is an organ of reddish-brown color, irregular shape and soft consistency. It distinguishes between right and left lobes. The part of the right lobe, which is located between the fossa of the gallbladder (the bed of the gallbladder) and the porta hepatis (where various vessels and nerves pass), is called the quadrate lobe.

The liver is covered on top with a capsule. The capsule contains nerves that innervate the liver. The liver is made up of cells called hepatocytes. These cells take part in the synthesis of various proteins, salts, and also participate in bile formation (a complex process that results in the formation of bile).

Liver functions:
1. Neutralization of various substances harmful to the body. The liver neutralizes various toxins (ammonia, acetone, phenol, ethanol), poisons, allergens (various substances that cause an allergic reaction in the body).

2. Depot function. The liver is a storehouse of glycogen (a storage carbohydrate formed from glucose), thereby participating in the metabolism of glucose.
Glycogen is formed after eating, when blood glucose levels rise sharply. Increased blood glucose levels lead to the production of insulin, which in turn is involved in the conversion of glucose into glycogen. When blood sugar levels drop, glycogen leaves the liver and is converted back into glucose by the action of glucagon.

3. The liver synthesizes bile acids and bilirubin. Subsequently, the liver uses bile acids, bilirubin and many other substances to create bile. Bile is a viscous liquid of greenish-yellow color. It is necessary for normal digestion.
Bile, released into the lumen of the duodenum, activates many enzymes (lipase, trypsin, chymotrypsin), and is also directly involved in the breakdown of fats.

4. Neutralization of excess hormones, mediators (chemicals involved in the conduction of nerve impulses). If excess hormones are not neutralized in time, serious metabolic disorders and the functioning of the body as a whole occur.

5. Storage and accumulation of vitamins, especially groups A, D, B 12. I would also like to note that the liver is involved in the metabolism of vitamins E, K, PP and folic acid (necessary for DNA synthesis).

6. The liver only in the fetus is involved in hematopoiesis. In an adult, it plays a role in blood clotting (produces fibrinogen, prothrombin). The liver also synthesizes albumins (carrier proteins located in the blood plasma).

7. The liver synthesizes some hormones involved in digestion.

The role of iron in the body

Iron is considered the most abundant biological trace element. The required amount of iron in the daily diet is on average 10-20 milligrams, of which only 10% is absorbed. The body of a healthy person contains approximately 4-5 grams of iron. Most of it is part of hemoglobin (necessary for supplying tissues with oxygen), myoglobin, various enzymes - catalase, cytochromes. Iron, which is part of hemoglobin, makes up approximately 2.7-2.8% of the total iron in the body.

The main source of iron for humans is food, such as:

meat;
liver;

These foods contain iron in an easily digestible form.

Iron accumulates (deposited) in the liver, spleen, and bone marrow in the form of ferritin (iron-containing protein). If necessary, the iron leaves the depot and is used.

Functions of iron in the human body:

iron is necessary for the synthesis of erythrocytes (red blood cells) and hemoglobin (oxygen-carrying protein);
plays an important role in the synthesis of cells of the immune system (leukocytes, macrophages);
plays a role in the process of energy production in muscles;
participates in cholesterol metabolism;
promotes detoxification of the body from harmful substances;
prevents the accumulation of radioactive substances (for example, plutonium) in the body;
is part of many enzymes (catalase, cytochromes), proteins in the blood;
participates in DNA synthesis.

Causes of hemochromatosis

The cause of the disease is an abnormal (diseased) gene. This gene increases the risk of hemochromatosis. It is located on the left arm of chromosome 4. The disease develops only in homozygous people.

The gene responsible for the disease is called HFE. It contains the Cys 282 – Tyr mutation (occurs in 75.5% of cases) and the His63Asp mutation (occurs in 45.5% of cases).

People who do not have the abnormal gene do not get sick even with excess iron intake into the body. I would like to note that hemochromatosis together with alcoholism occurs in 2% of cases. The involvement of alcohol as a risk element in hemochromatosis has not yet been proven.

The main defect in hemochromatosis is an increase in the absorption of iron from the intestine. Enhanced absorption of iron leads to a progressive increase in its concentration in the body. Normally, an adult has 3-5 grams of iron in the body. The rest of the iron (which is formed by breaking down aged red blood cells) is used again by the body. 1-2 milligrams of iron are excreted from the body per day (in women more due to menstruation). Approximately the same amount is absorbed from the intestines.

The main role in the absorption of iron is played by the cells (enterocytes) of the duodenum. The so-called transporter DMT-1 takes part in the absorption process - this is a protein that transfers iron from the intestinal lumen to the enterocyte. The trace element then transports apotransferin, a protein that transports it to the liver. In the liver, iron binds to another carrier protein, transferrin.
Normally, transferrin is saturated with iron by 33%. In hemochromatosis, the percentage of transferrin saturation is 100%.

The main reasons for the increase in the amount of iron in the human body:
1. Hereditary hemochromatosis:

mutations in the HFE gene;
mutations in transferrin protein receptor 2 (transmitted in an autosomal recessive manner);
mutations of other iron transporters;
early hemochromatosis (in children).

2. Secondary causes leading to an increase in iron:

Thalassemia is a disease that affects different globin chains. With this disease, a large number of red blood cells are destroyed. This releases hemoglobin, which is broken down into various metabolites, and iron is released.
Liver diseases (alcoholic hepatitis, chronic viral hepatitis B and C, porphyria, etc.

3. Increased iron due to intravenous drugs:

blood transfusion (foreign red blood cells live much shorter than their own, and when destroyed, they release iron);
iron infusion;
continuous hemodialysis.

What happens to organs and tissues during hemochromatosis?
The most characteristic change in the liver and other organs is fibrosis. Fibrosis is the replacement of normal cells with connective cells. With fibrosis, organ tissue thickens and scar changes appear. Fibrosis gradually turns into cirrhosis. With proper treatment, fibrosis can be reversible.

In cirrhosis, organ cells are irreversibly replaced by fibrous tissue. The main consequence of cirrhosis is usually a significant decrease in liver function.

Symptoms of hemochromatosis

Patients who are identified in the initial stages of the disease do not complain.
In the early stages of the disease, weakness and malaise appear. At later stages, signs of damage to individual organs are noted:

Skin pigmentation(face, front of the forearm, upper part of the hand, navel area, nipples and external genitalia). This symptom occurs in 90% of cases.
Skin pigmentation is explained by the deposition of hemosiderin, and partly melanin.
Hemosiderin is a dark yellow pigment consisting of iron oxide. It is formed after the breakdown of hemoglobin and the subsequent destruction of the protein ferritin.
When a large amount of hemosiderin accumulates, the skin takes on a brown or bronze tint.
Lack of hair on the face and torso.
Pain in the abdominal area of varying intensity, without a specific localization.
This symptom occurs in 30-40% of cases. Abdominal pain is often accompanied by dyspeptic disorders.
Dyspeptic syndrome includes several symptoms: nausea, vomiting, diarrhea, lack of appetite.
Nausea is an unpleasant sensation in the stomach or along the esophagus. Nausea is usually accompanied by dizziness and weakness.
Vomiting is a reflex act in which the contents of the stomach are expelled through the mouth. Vomiting occurs due to strong contraction of the abdominal muscles.
Diarrhea is a condition in which bowel movements become more frequent (more than 2 times a day). With diarrhea, stool becomes watery (liquid).
Patient's presence diabetes mellitus. Diabetes mellitus is an endocrine disease in which there is a stable (long-term) increase in the amount of sugar (glucose) in the blood. There are many reasons leading to diabetes. One of them is insufficient insulin secretion. With hemochromatosis, due to the accumulation of large amounts of iron in the pancreas, destruction of normal cells of the organ occurs. Subsequently, fibrosis forms - normal gland cells are replaced by connective cells, its function decreases (does not produce insulin).
Diabetes mellitus occurs in 60-80% of cases.
Hepatomegaly– increase in liver size. In this case, it occurs due to the accumulation of iron. Occurs in 65-70% of cases.
Splenomegaly– pathological increase in the size of the spleen. Occurs in 50-65% of cases.
Cirrhosis of the liver is a diffusely progressive disease in which healthy organ cells are replaced by fibrous tissue. Liver cirrhosis occurs in 30-50% of cases.
Arthralgia– pain in the joints. Hemochromatosis often affects the interphalangeal joints of the 2nd and 3rd fingers. Gradually, other joints begin to be affected (elbows, knees, shoulders and rarely hips). Among the complaints are limited movements in the joints, and sometimes their deformation.
Arthralgia occurs in 44% of cases. Consultation with a rheumatologist is recommended.
Sexual disorders. The most common sexual disorder is impotence - it occurs in 45% of cases.
Impotence is a disease in which a man is unable to perform normal sexual intercourse, or does not perform it fully. Consultation with a sex therapist is recommended.
In women, amenorrhea is possible in 5-15% of cases.
Amenorrhea is the absence of menstruation for 6 or more months. Consultation with a gynecologist is recommended.
Disorders such as hypopituitarism (lack of one or more pituitary hormones) and hypogonadism (insufficient amount of sex hormones) are rare.
Cardiovascular pathologies(arrhythmias, cardiomyopathies) occur in 20-50% of cases.
Arrhythmia is a condition in which an irregular heart rhythm occurs.
Cardiomyopathy is a heart disease that affects the myocardium.
If such complaints occur, it is recommended to consult a cardiologist.

There is a so-called classic triad for hemochromatosis. These are: liver cirrhosis, diabetes mellitus and skin pigmentation. This triad usually appears when the iron concentration reaches 20 grams, which is 5 times higher than the physiological norm.

Course of hemochromatosis

Hemochromatosis is a constantly progressive disease. Without treatment, irreversible changes and serious complications begin to appear after some time.

Diagnosis of hemochromatosis

Conversation with a doctor
The doctor will ask you about your complaints. Particularly in depth will dwell on the question of whether any of the relatives suffered from a similar disease.

Inspection
During the examination, the doctor will pay attention to the color of the skin (the presence of pigmentation). The doctor will also be interested in the absence of hair on the face and body.

Palpation (palpation) of the abdomen
The liver is enlarged on palpation, slightly hard and smooth in consistency. If the disease has already reached the stage of cirrhosis, then the liver will be hard and lumpy to the touch. Also, palpation of the right hypochondrium may cause pain. Palpation of the spleen reveals its enlargement (normally not palpable).

Analyzes
1. A general blood test for hemochromatosis is not indicative (does not confirm the diagnosis). It is carried out to exclude anemia (decrease in the number of red blood cells and hemoglobin).

2. Blood chemistry:

there is an increase in the amount of bilirubin above 25 µmol per liter;
increase in the amount of ALAT above 50;
increase in AST above 47;
in case of diabetes mellitus, an increase in the amount of glucose in the blood above 5.8.

3. Dynamic tests to study iron metabolism. Tests are carried out using the drug deferoxamine. In the case of a positive test (presence of the disease), the release of iron metabolites in the urine (sideruria) is observed.

There is a step-by-step scheme for diagnosing hemochromatosis:
1. First step
A test is carried out to determine the concentration of transferrin (iron transport protein). The specificity (the ability to confirm the diagnosis) of this test is 85%. If the transferrin concentration is above 45% (normally 16-44%), then proceed to the second step.

2. Second step
Ferritin dosing test.
If a premenopausal woman (before the onset of menopause) has a ferritin level above 200, the test is considered positive. Normally, ferritin should not be higher than 200.
If a postmenopausal woman has a ferritin level above 300, the test is considered positive.
If ferritin in men is above 300, the test is also positive. Normally, ferritin in men does not exceed 300.
If the test is positive, proceed to the third step.

3. The third step is also called the disease confirmation step (hemochromatosis).
Phlebotomy (bloodletting) is a diagnostic and treatment procedure in which a certain amount of blood is extracted.
The diagnostic method is called indirect quantitative phlebotomy . It consists of removing 3 grams of iron. Perform weekly bloodletting. 500 milliliters of blood contains 200 milligrams of iron. If after removing 3 g of iron from the body the patient feels better, the diagnosis is finally confirmed.

Also applies genetic analysis to identify a mutant gene.

Often used liver biopsy(taking a piece of tissue for examination). The biopsy is performed using a special thin needle. Often the biopsy is performed under ultrasound guidance.

Liver biopsy is currently the most informative method for predicting the disease. Iron is determined using a special Perez stain. After staining, the amount of iron in the liver tissue is determined: the higher it is, the worse the prognosis. Normally, the amount of iron contained in dried liver tissue does not exceed 1800 mcg per 1 g. With hemochromatosis, this figure is higher than 10,000 mcg per 1 g of dried liver.

DNA analysis allows you to determine the genotype (hereditary constitution of the body). Most often, heterozygous genotypes C28Y/C28Y or H63D/H63D are determined.

Complications of hemochromatosis

Development
Arthropathy(joint disease) is a complex of diseases associated with metabolic disorders in the joint.
Various thyroid dysfunction. Most often, hypofunction of the thyroid gland develops. This leads to disruption of the metabolism of proteins and carbohydrates.

Treatment of hemochromatosis

Treatment should be carried out under the strict supervision of a gastroenterologist!

Diet
The basic rule in nutrition is the exclusion of foods containing iron, as well as substances that increase the absorption of this microelement.

Foods that need to be excluded from the diet:

Alcohol must be strictly avoided as it increases iron absorption and is also toxic to the liver.
Avoid smoking, as well as cases of passive smoking (staying for a long time near people who smoke). Smoking itself disrupts metabolism, which significantly complicates the disease.
Excessive consumption of flour products, especially black bread, should be avoided.
Limiting the consumption of meat products (complete exclusion is not necessary).
Exclusion of kidneys and liver from the diet.
Limiting foods containing large amounts of vitamin C. Ascorbic acid significantly enhances iron absorption. You should also not take medications that contain vitamin C.
Seafood products should be excluded, especially crabs, lobsters, shrimp and various seaweeds.

Recommended: drink black tea and weak coffee. These drinks contain substances (tannins) that slow down the absorption of iron.

Otherwise, no special restrictions or rules are required in cooking.

Vitamin therapy
At the beginning of treatment, it is recommended to prescribe B vitamins, vitamin E and folic acid. These vitamins enhance the release of iron from the body. In addition, vitamin E is a strong antioxidant. It is necessary because Excess iron in the body leads to its oxidation, releasing a large number of free radicals.

Phlebotomy
Today, there is only one effective non-drug treatment for hemochromatosis - phlebotomy (bloodletting). This is a therapeutic measure that consists of extracting a certain amount of blood from the body. Bloodletting is performed by puncturing a vein and then draining the blood (the method is actually no different from blood donation). After this, the blood is processed. Such blood is not used as donor blood.

Phlebotomy is performed on an outpatient basis. Draining approximately 500 milliliters of blood weekly. These procedures are carried out for 2-3 years until the ferritin level drops to 50.

In parallel, the hemoglobin content is monitored over time. The concentration of serum ferritin is periodically determined (once every three months for severe overload, and once a month for moderate overload).

Then they switch to the so-called. a program to maintain ferritin concentrations at the above levels. This is also done using phlebotomy, but the procedures are performed much less frequently. The number of procedures is selected strictly individually.

Drug treatment
Treatment is with chelators (chemicals that remove iron from the body). Deferoxamine (desferal) is used - 1 gram per day intramuscularly.
Treatment with this drug is not effective enough. With long-term use, a complication in the form of clouding of the lens is possible.

Prognosis for hemochromatosis

Within 10 years, 80% of patients remain alive. And only 50-70% of patients remain alive 20 years after the onset of the disease. The higher the level of iron in the body, the worse the prognosis of the disease.

Prevention of hemochromatosis

Family profile. All family members should be examined for transferrin and ferritin concentrations. If the tests are positive, a liver biopsy is performed.
Strict ban on alcohol consumption.

Hereditary hemochromatosis is a group of diseases with a genetically determined disorder of iron metabolism in the body and its accumulation in various organs and tissues. This pathology is based on a genetic mutation that leads to increased absorption of iron in the gastrointestinal tract. The prevalence of hemochromatosis is high in northern Europe, Australia, Africa and America. The average frequency of its occurrence is 1.5-3:1000 population.

There are also acquired diseases caused by iron overload, which have a similar clinical picture to hemochromatosis, but they are based on different development mechanisms. In this case, excess iron can be associated with constant blood transfusions, chronic, erroneous therapy with iron supplements. Unlike hereditary hemochromatosis, these conditions are usually called hemosiderosis with an indication of its cause (the main pathology).

Pathological changes occurring in the body

Hemochromatosis is characterized by the accumulation of excess iron in tissues and internal organs.

In a healthy person, iron absorption does not exceed 2-2.5 g per day. With hemochromatosis, it increases 2-3 times. Its constantly high concentration in the blood leads to the accumulation of excess iron in the body. This process happens slowly. For many years the disease does not manifest itself in any way. The first symptoms of the disease appear if iron reserves increase so much that they exceed normal levels by 20 g or more. At the same time, the iron content increases:

in blood serum;
red blood cells;
parenchymal organs.

As the pathological process progresses, it accumulates:

in heart;
upper layers of skin;
lymph nodes;
synovial membranes of joints.

It is iron overload that is the defining moment of changes in organs and tissues, which determine the clinical picture of the disease with the absence of remissions and a steadily progressive course. Irreversible diffuse sclerosis develops in the affected organs.

In men, hemochromatosis is detected much earlier than in women. This is due to the physiology of the female body. Blood loss during pregnancy and childbirth contributes to the removal of unnecessary iron.

Clinical picture

The severity of clinical symptoms of hemochromatosis is closely related to the level of iron in the body. Usually the disease is detected after the age of 40, in rare cases earlier.

Characteristic symptoms of hemochromatosis are:

damage to joints by type (metacarpophalangeal, knee, hip, elbow) - pain, swelling, stiffness;
attacks of various localization;
hyperpigmentation of the skin (yellowish-brown or bronze tint; especially noticeable in the armpits and groin areas);
heart rhythm disturbances (caused by damage to the heart muscle);
signs of congestion (swelling, shortness of breath during physical activity, and then at rest);
enlarged liver and;
endocrine disorders (, decreased sexual function,);
weakness, increased fatigue.

In later stages, such patients may develop signs. In rare cases, primary liver cancer develops against this background.

Patients with hemochromatosis have an increased susceptibility to infectious diseases due to a decrease in general resistance. Moreover, the disease is caused by microorganisms that are very rarely pathogenic for a healthy person.

At a young age, as well as in carriers of a pathological gene, complaints may be minor or absent altogether.

Diagnostics

A biochemical blood test will help the doctor determine the diagnosis.

The diagnosis of hemochromatosis is made on the basis of clinical signs and the results of laboratory and instrumental studies.

The earliest laboratory sign of hemochromatosis is an increase in the percentage of transferrin saturation with iron. At the same time, the serum iron content and ferritin level in the blood increase.
Changes may not be detected for a long time. They are found in the form of anemia, leukopenia, thrombocytopenia along with increased levels of liver enzymes only in cases of severe liver damage.
If the pancreas is involved in the pathological process, an increased level of glucose may be detected in the blood.
When studying hormonal status, a decrease in pituitary tropic hormones is often detected.
Heart damage is manifested by changes in blood pressure (reduced voltage, arrhythmias) and echocardiographic signs of restrictive cardiomyopathy.
X-rays of the joints reveal a narrowing of the joint space and iron deposition in the synovium.

The diagnosis is confirmed by studying the DNA structure and identifying gene mutations.

Treatment

Currently, the following methods are used to treat hemochromatosis.

Bleeding:

main method of treatment;
involves removing 500 ml of blood per week, if poorly tolerated - 250 ml;
after reaching target ferritin levels (20-50 g/nl), bloodletting is performed less frequently - every 2-4 months in men and every 3-6 months in women.

Extracorporeal hemocorrection of excess iron using plasmapheresis (has a gentle effect on the body and is an alternative to therapeutic bloodletting).
Prescribing medications that bind iron and remove it in the urine (the method is used less frequently, as it has less effectiveness and side effects).

Such patients may be prescribed a diet that limits the consumption of foods rich in iron. Parenteral administration of ascorbic acid (improves iron absorption) and consumption of alcoholic beverages are not recommended.

Forecast

The prognosis for hemochromatosis depends on the timeliness of diagnosis and initiation of treatment. Early detection of the disease helps prevent the development of:

diabetes mellitus,
liver cirrhosis,
heart damage.

Which doctor should I contact?

Patients with hemochromatosis are usually treated by a hematologist. Patients with this rare hereditary disease also receive consultations in large medical centers. Additionally, treatment is prescribed depending on the affected organs by a cardiologist, rheumatologist, hepatologist, endocrinologist and other specialists.

Any liver disease leads to dysfunction of other organs and systems of the body. After all, the liver is the body’s filter, which frees it from toxins, heavy metals, excess hormones, and fat. Hemochromatosis is a hereditary liver disease. Such a genetic failure provokes an increase in the absorption of iron in the digestive system and blood. Thus, there is an excessive accumulation of iron in tissues and organs. What is hemochromatosis, what are its symptoms? And how to treat such a serious disease?

What is hemochromatosis?

Hemochromatosis is a liver disease characterized by impaired iron metabolism. This provokes the accumulation of iron-containing elements and pigments in the organs. In the future, this phenomenon leads to the occurrence of multiple organ failure. The disease got its name because of the characteristic color of both the skin and internal organs.

Hereditary hemochromatosis is very common. Its frequency is about 3-4 cases per 1000 people. However, hemochromatosis is more common in men than in women. Active development, and the first signs of the disease begin to appear at the age of 40-50 years. Since hemochromatosis affects almost all systems and organs, doctors from different fields treat the disease: cardiology, gastroenterology, rheumatology, endocrinology.

Experts distinguish two main types of the disease: primary and secondary. Primary hemochromatosis is a defect of enzyme systems. This defect provokes the accumulation of iron in the internal organs. In turn, primary hemochromatosis is divided into 4 forms, depending on the defective gene:

Autosomal recessive classic;
Juvenile;
Hereditary unassociated;
Autosomal dominant.

The development of secondary hemochromatosis occurs against the background of acquired dysfunction of enzyme systems that take part in the process of iron metabolism. Secondary hemochromatosis is also divided into several types: alimentary, post-transfusion, metabolic, neonatal, mixed. The development of any form of hemochromatosis occurs in 3 stages - without excess iron, with excess iron (without symptoms), with excess iron (with severe symptoms).

Main causes of hemochromatosis

Hereditary hemochromatosis (primary) is a disease of autosomal recessive transmission. The main reason for this form can be called a mutation of a gene called HFE. It is located on the short arm of chromosome six. Mutations of this gene provoke disturbances in the uptake of iron by intestinal cells. As a result, a false signal is generated about a lack of iron in the body and blood. This disorder is caused by increased secretion of the DCT-1 protein, which binds iron. Consequently, the absorption of the element in the intestines is enhanced.

Further, the pathology leads to an excess of iron pigment in the tissues. As soon as an excess of pigment occurs, the death of many active elements is observed, which becomes the cause of sclerotic processes. The cause of secondary hemochromatosis is the excessive intake of iron into the body from the outside. This condition often occurs against the background of the following problems:

Excessive intake of iron supplements;
Thalassemia;
Anemia;
Cutaneous porphyria;
Alcoholic cirrhosis of the liver;
Viral hepatitis B, C;
Malignant tumors;
Following a low protein diet.

Symptoms of the disease

Hemochromatosis of the liver is characterized by vivid symptoms. But, the first signs of the disease begin to manifest themselves in adulthood - after 40 years. It is during this period of life that up to 40 grams of iron accumulate in the body, which significantly exceeds all acceptable standards. Depending on the stage of development of hemochromatosis, the symptoms of the disease are also distinguished. It is worth considering them in more detail.

Symptoms of the initial stage of development

The disease develops gradually. At the initial stage, symptoms are not expressed. For many years, the patient may complain of general symptoms: malaise, weakness, increased fatigue, weight loss, decreased potency in men. Further, more pronounced symptoms begin to join these symptoms: pain in the liver, joint pain, dry skin, atrophic changes in the testicles in men. After this, the active development of hemochromatosis occurs.

Signs of the advanced stage of hemochromatosis

The main signs of this stage are the following complications:

Skin pigmentation;
Pigmentation of mucous membranes;
Cirrhosis of the liver;
Diabetes.

Hereditary hemochromatosis, like any other form, is characterized by pigmentation. This is the most common and main sign of the disease’s transition to an advanced stage. The severity of the symptom depends on the duration of the disease. Smoky and bronze skin tone most often appears on exposed areas of the skin - face, arms, neck. Also, characteristic pigmentation is observed on the genitals and in the armpits.

Excess iron is primarily deposited in the liver. Therefore, almost every patient is diagnosed with an enlarged gland. The structure of the liver also changes - it becomes denser, painful on palpation. 80% of patients develop diabetes mellitus, and in most cases it is insulin dependent. Endocrine changes also manifest themselves in the following signs:

Pituitary dysfunction;
Hypofunction of the pineal gland;
Adrenal gland dysfunction;
Dysfunction of the gonads and thyroid gland.

Excessive accumulation of iron in the organs of the cardiovascular system in primary hereditary hemochromatosis occurs in 95% of cases. But, heart symptoms appear only in 30% of all cases of the disease. Thus, heart enlargement, arrhythmia, and refractory heart failure are diagnosed. There are characteristic symptoms depending on gender. Thus, men experience testicular atrophy, complete impotence, and gynecomastia. Women often experience infertility and amenorrhea.

Symptoms of the thermal stage of hemochromatosis

During this period, specialists observe the process of organ decompensation. This manifests itself in the form of the development of portal hypertension, liver failure, ventricular heart failure, exhaustion, dystrophy, and diabetic coma. In such cases, mortality occurs, most often, from bleeding of varicose veins of the esophagus, peritonitis, diabetic and hepatic coma. The risk of developing tumors increases. A rare form is juvenile hemochromatosis, which actively develops at the age of 20-30 years. Mainly the liver and cardiac system are affected.

Diagnosis of hemochromatosis

Diagnosis is carried out by a specialist, depending on the main symptom. So, the patient can seek help from a cardiologist, gastroenterologist, gynecologist, endocrinologist, rheumatologist, urologist or dermatologist. At the same time, the diagnostic options are the same, regardless of the clinical manifestations of hemochromatosis. After an initial examination, collection of anamnesis, and patient complaints, laboratory and instrumental tests are prescribed that will confirm or refute the diagnosis.

Based on the results of laboratory tests, an accurate diagnosis can be made. So, the presence of hemochromatosis will be indicated by the following indicators:

High levels of iron in the blood;
Increased levels of transferrin and ferritin in the blood serum;
Increased excretion of iron in urine;
Low iron-binding capacity of blood serum.

Next, the specialist may prescribe a biopsy of the liver or skin using a puncture. Deposits of hemosiderin will be found in the samples taken, which will also indicate hemochromatosis. Hereditary hemochromatosis is diagnosed using molecular genetic testing. To establish the degree of damage and the condition of the affected internal organs, instrumental diagnostics are required.

The most popular research method is ultrasound of the affected organs. It is possible to assess the condition of the liver, heart, and intestines. For a more detailed diagnosis, MRI or CT, radiography of the joints are prescribed. Additionally, you can conduct a study of liver tests, urine, blood sugar levels, and glycosylated hemoglobin.

Treatment of hemochromatosis

Therapy for hemochromatosis must be comprehensive. The main goal of this treatment is to remove iron from the body. But it is very important that the diagnosis is made correctly. Only after this is treatment prescribed. Self-medication is strictly prohibited. So, the first stage of therapy is taking iron-binding drugs.

When such drugs enter the body, they begin to actively bind to iron molecules, with their further removal. For this purpose, a 10% desferal solution is often used. It is intended for intravenous administration. The course of therapy is prescribed exclusively by the doctor, depending on the severity of hemochromatosis. On average, the course lasts 2-3 weeks.

A prerequisite for the complex treatment of hemochromatosis is phlebotomy. This procedure is also known as bloodletting. Since ancient times, bloodletting has been used to treat various diseases. And hemochromatosis responds well to this type of therapy. Due to the release, the number of red blood cells in the total amount of blood decreases. Consequently, iron levels also decrease. In addition, phlebotomy quickly eliminates pigmentation and liver dysfunction. But, it is important to follow all dosages and rules of the procedure. Thus, draining 300-400 ml of blood at a time is considered acceptable. But if a patient loses 500 ml of blood, their health may worsen. It is enough to carry out the procedure 1-2 times a week.

During the treatment period, the following conditions should be observed:

Complete exclusion of alcohol;
Refusal to take dietary supplements;
Refusal to take vitamin C and multivitamin complexes;
Excluding foods with high iron levels from the diet;
Refusal to consume easily digestible carbohydrates.

To cleanse the blood, specialists can resort to plasmapheresis, cytapheresis or hemosorption. Simultaneously with the removal of iron, it is worth carrying out symptomatic treatment of the liver, heart failure, and diabetes mellitus. Comprehensive treatment of the disease includes adherence to a certain diet.

Diet for hemochromatosis

Diet for this disease plays an important role in the treatment process. Thus, foods that are a source of large amounts of iron are completely excluded from the patient’s diet. These include the following:

Pork, beef;
Buckwheat grain;
Pistachios;
Apples;
Beans;
Corn;
Spinach;
Parsley.

It is worth remembering that the darker the meat, the more of this microelement it contains. If you have hemochromatosis, it is strictly forbidden to drink any alcoholic beverages. The consumption of vitamin C leads to increased absorption of iron. Therefore, ascorbic acid should also be excluded. Experts say that you do not need to completely give up foods containing iron. You just need to minimize the amount of their consumption.

After all, hemochromatosis is a disease of excess iron. It is worth normalizing its level. But iron deficiency will provoke severe blood diseases. Everything should be in moderation. When drawing up a dietary menu, you need to replace dark meat with light meat, buckwheat porridge with wheat porridge. Following such a diet will speed up the recovery process and improve the general condition of the patient.

What's the prognosis?

If hemochromatosis is detected early, the patient’s life is extended by decades. In general, the prognosis is determined taking into account organ overload. In addition, hemochromatosis occurs in adulthood, when concomitant chronic illnesses often develop. If hemochromatosis is not treated, life expectancy will be a maximum of 3-5 years. An unfavorable prognosis is also observed in the case of damage to the liver, heart and endocrine system with this disease.

To avoid the development of secondary hemochromatosis, you should follow the rules of prevention. The main ones are a rational, balanced diet, taking iron supplements only under the supervision of a doctor, periodic blood transfusions, avoiding alcohol, and observation by a doctor in the presence of heart and liver diseases. Primary hemochromatosis requires family screening. After this, the most effective treatment begins.