What organs are most often affected in amyloidosis. Amyloidosis - symptoms, diagnosis and treatment of amyloidosis
- a general, systemic disease of the body, in which there is a deposition of a specific glycoprotein (amyloid) in organs and tissues with a violation of the function of the latter. With amyloidosis, the kidneys (nephrotic syndrome, edematous syndrome), heart (heart failure, arrhythmias), gastrointestinal tract, musculoskeletal system, skin. Possible development of polyserositis, hemorrhagic syndrome, mental disorders. Reliable diagnosis of amyloidosis is facilitated by the detection of amyloid in biopsy samples of affected tissues. For the treatment of amyloidosis, immunosuppressive and symptomatic therapy is carried out; according to indications - peritoneal dialysis, kidney and liver transplantation.
The defeat of the gastrointestinal tract in amyloidosis is characterized by amyloid infiltration of the tongue (macroglassia), esophagus (rigidity and impaired peristalsis), stomach (heartburn, nausea), intestines (constipation, diarrhea, malabsorption syndrome, intestinal obstruction). Gastrointestinal bleeding may occur at various levels. With amyloid infiltration of the liver, hepatomegaly, cholestasis, and portal hypertension develop. Pancreatic involvement in amyloidosis usually masquerades as chronic pancreatitis.
Amyloidosis of the skin occurs with the appearance of multiple waxy plaques (papules, nodules) in the face, neck, natural skin folds. Externally, skin lesions may resemble scleroderma, neurodermatitis, or lichen planus. For amyloid lesions of the musculoskeletal system, the development of symmetrical polyarthritis, carpal tunnel syndrome, humeroscapular periarthritis, and myopathy is typical. Separate forms of amyloidosis occurring with involvement nervous system may be accompanied by polyneuropathy, paralysis lower extremities, headaches, dizziness, orthostatic hypotension, sweating, dementia, etc.
Diagnostics
Various clinicians may encounter clinical manifestations of amyloidosis: rheumatologists, urologists, cardiologists, gastroenterologists, neurologists, dermatologists, therapists, etc. A comprehensive assessment of clinical and anamnestic signs, a comprehensive laboratory and instrumental examination are of paramount importance for the correct diagnosis.
The final diagnosis of amyloidosis is possible after the detection of amyloid fibrils in the affected tissues. For this purpose, a biopsy of the kidney, lymph nodes, gums, gastric mucosa, rectum can be performed. Establishing the hereditary nature of amyloidosis contributes to a thorough medical genetic analysis of the pedigree.
Amyloidosis treatment
The lack of completeness of knowledge about the etiology and pathogenesis of the disease causes difficulties associated with the treatment of amyloidosis. With secondary amyloidosis importance has active therapy background disease. Nutrition recommendations suggest limiting the intake of salt and protein, including raw liver in the diet. Symptomatic therapy amyloidosis depends on the presence and severity of certain clinical manifestations. As pathogenetic therapy, drugs of the 4-aminoquinoline series (chloroquine), dimethyl sulfoxide, unitiol, colchicine can be prescribed. For the treatment of primary amyloidosis, treatment regimens with cytostatics and hormones (melfolan + prednisolone, vincristine + doxorubicin + dexamethasone) are used. At development of CKD hemodialysis or peritoneal dialysis is indicated. In some cases, the question of kidney or liver transplantation is raised.
Forecast
The course of amyloidosis is progressive, almost irreversible. The disease can be aggravated by amyloid ulcers of the esophagus and stomach, bleeding, liver failure, diabetes mellitus, etc. With the development of chronic kidney failure average duration life of patients is about 1 year; with the development of heart failure - about 4 months. The prognosis of secondary amyloidosis is determined by the possibility of treating the underlying disease. More severe course amyloidosis is noted in elderly patients.
Treatment of primary, secondary and hereditary amyloidosis becomes necessary primarily in cases where amyloid deposits are generalized and the progression of the disease leads to serious violations functions of the kidneys, heart, gastrointestinal tract, peripheral nervous system. If amyloid deposits are not widespread, do not pose a threat to life, and cause mild clinical manifestations (senile amyloidosis, cutaneous, and some types of localized neoplastic form), therapeutic interventions are less necessary.
In the vast majority of cases, the treatment of amyloidosis is the treatment of the nephropathy that occurs with it, which is usually detected in the stage of NS. But if the diagnosis of amyloidosis in many cases can now be made with greater certainty thanks to the use of puncture biopsy of organs and other research methods based on the successes of morphologists and biochemists, its treatment is still a difficult task and often remains very limited.
Compliance during the period of sufficient nitrogen-excreting function of the kidneys with a full-fledged diet with restriction of sodium chloride (table salt) in the presence of edema, parenteral administration whole blood or, better, red blood cells for anemia, regulation of disturbed electrolyte balance, careful administration of diuretics and antihypertensive drugs, and in the period of renal failure, the use of drugs used for uremia - these are the methods mainly symptomatic treatment patients with amyloidosis, not much different from the treatment of other nephropathies.
However, neither a rational diet nor the use of modern active diuretic and antihypertensive drugs different mechanism actions cannot significantly stop the progression of amyloidosis with the development of renal failure.
All this forces us to look for new means of influencing developing amyloidosis, and therefore it is of interest. successful use and in a number of cases of "liver" therapy, which, with a certain convention, can be called pathogenetic. This is especially true for the treatment of raw liver, the long-term use of which in some cases leads to a certain improvement in the condition. H. Grayzell and M. Jacobi. (1938) observed significant improvement(decrease in proteinuria, the size of the liver and spleen, a tendency to normalize the parameters of the test with Congo red) in more than half of the children who received a dried liver preparation for 2-5 years.
E. M. Tareev (1958) indicates the need for long-term "liver" therapy for amyloidosis. Optimal should be considered a daily intake of 80-120 g of raw liver for 6-12 months, given the possibility of blood eosinophilia.
The currently available data on the pathogenesis of amyloidosis allow us to speak about some other active therapeutic methods and outline the following ways of pathogenetic treatment:
1) elimination of factors contributing to the formation of amyloid;
2) inhibition of its production;
3) impact on already precipitated amyloid, leading to its resorption.
In this regard, in addition to removing the focus of chronic antigenic stimulation, the use of agents that prevent the formation of an amyloid precursor (for example, inhibition of the formation of light chains), the removal of formed amyloid precursors by plasmapheresis, stimulation of phagocytosis with an antiserum to amyloid or its constituents, etc., can be discussed.
The importance of active treatment of the underlying disease in which amyloidosis develops should be pointed out. This applies mainly to secondary amyloidosis in chronic infections and suppurative processes. Thus, cases of disappearance of signs of amyloid nephrosis as a result of active treatment of visceral syphilis are described.
T. Addis (1948) noted a significant decrease in signs of renal damage under the influence of treatment with bismuth and iodine about a massive gummous process in the liver. V. M. Tareev (1958) reports an observation in which persistent antisyphilitic therapy (biyoquinol, novarsenol) for 3 years led to the complete disappearance of severe NS (edema disappeared, reaching the degree of anasarca, total serum protein increased from 4.8 to 7 3%, blood cholesterol returned to normal, proteinuria completely disappeared (up to 33‰).
This can be achieved in tuberculosis as a result of long-term use of tuberculostatic agents [Vernardt C. et al., 1959]. The possibility of remission in secondary amyloidosis is indicated by J. Lowenstein and E. Gallo (1970), D. Trigger and A. Jockes (1973). great value presents the classic work of A. I. Abrikosov (1935), who observed a large number of “giant” cells in the “sago” spleen of a man who died of pneumonia, complicated by bronchiectasis and lung abscess. These multinucleated cells were located next to the amyloid masses, which seemed to be "disconnected", uzurirovannoe.
At the same time, unequal intensity of staining of amyloid masses was found in various parts organ. AI Abrikosov concludes that in this case, one can think about the resorption of amyloid. Later, similar observations were published by B. I. Migunov (1936), V. A. Dobrynina (1959), V. V. Serov et al. (1974), V.V. Suroy et al. (1974), which in all details confirmed the opinion of A. I. Abrikosov.
The value of antibiotics, chemotherapy and surgical interventions as ways to influence the foci that cause and maintain amyloidosis does not decrease in cases of development of renal failure caused by it. But not always, unfortunately, the elimination or achievement of a stable remission of the underlying disease can delay the progression of amyloidosis.
So far, the question of the effect of CS on the course of amyloidosis cannot yet be considered clear. Experimental and clinical data in this regard are contradictory. The indications of a number of authors indicate an acceleration of the development of amyloidosis under the action of commonly used doses of ACTH, cortisone and prednisolone. This allows us to consider amyloidosis and the NS caused by it rather as contraindications to steroid therapy.
The question of the effect on the course of amyloidosis cytostatic agents and antilymphocyte serum is even less clear (Teilum G., 1954; Catchpole H. et al., 1958; Cardell V., 1961; Rantov P., 1967]. noticeable change in amyloidosis, immune reactions, especially cellular immunity, are forced to be very careful about the use of immunoactive agents. A significant acceleration of experimental amyloidosis under the influence of imuran (azathioprine) and especially antilymphocytic globulin, as shown by a number of researchers, including R. G. Arustamova with our participation (1972), confirms this.
True, we should especially dwell on the possibility of using drugs that inhibit the function of some cell clones, in particular, synthesizing light chains of immunoglobulins involved in the formation of amyloid fibril, which is primarily related to primary amyloidosis. Thus, the disappearance of Bene-Jones proteinuria under the influence of melphalan is shown, although without a significant effect on the further course of primary amyloidosis.
AT last years there were reports of allegedly successful use of melphalan in primary amyloidosis with kidney damage (Schwartz R. et al., 1979]. At the same time, one should be aware of the possibility of developing leukemia with prolonged use of melphalan.
As already mentioned, in contrast to immunosuppressants, drugs that have an immunostimulating effect (thymosin, levamisole), in the experiment seem to delay the progression of amyloidosis [Denisov VN et al., 1977; Khasabov N. N., 1978; Scheinberg M. et al., 1976]. However, these so far isolated reports require further confirmation before talking about the possibility of using such agents in human amyloidosis.
Drugs with a pronounced tropism for tissue cellular elements, including elements of the reticuloendothelial system, include drugs of the 4-aminoquinoline series (hingamin, rezoquin, chloroquine, delagil, plaquenil). The spectrum of these antimalarials is far from being limited only to direct influence on malarial plasmodium. Summarizing the studies, we can note the inhibitory effect of 4-aminoquinolines on the synthesis of nucleic acids, the activity of a number of enzymes (adenosine triphosphatase, monoamine oxidase, cholinesterase), the formation of acid mucopolysaccharides, and the stabilization of lysosomal membranes.
Thus, these drugs can affect the processes that play an important role, on the one hand, in the synthesis of amyloid fibrils, on the other hand, in creating a certain environment: the main substance in which these fibrils are located.
The validity of the use of drugs of the 4-aminoquinoline series in amyloidosis is supported by the results of studying their action in experimental (casein) amyloidosis in rabbits [Mukhin N.A., 1966], when a noticeable delay in the appearance and less than in the control group, the severity of biochemical and morphological features diseases under the influence of prolonged saturation with delagil. Of the drugs of the 4-aminoquinoline series, delagil and plaquenil can be used. If intolerance is detected, one drug is replaced by another.
Treatment usually begins with a dose of 0.25-0.5 g per day and is carried out for a long time - many months and even years, especially with some success, good tolerance and no side effects. As a rule, drugs of the 4-aminoquinoline series are tolerated quite satisfactorily, however, a number of patients experience side effects, which are usually expressed in the first weeks of treatment in nausea and vomiting, and later in visual impairment with corneal clouding.
You should also be aware of the possibility of leukopenia, skin changes and bleaching of hair, deviations from the central nervous system up to psychosis. These changes are reversible when the drugs are discontinued. An attempt at treatment with 4-aminoquinolines is acceptable in early stages amyloidosis; with a far advanced process (NS and especially the stage of renal failure), the use of these drugs is inappropriate.
Recently, experimental data have been obtained on the inhibitory effect on the development of amyloidosis of drugs such as colchicine. Undoubtedly, these drugs reduce the frequency of attacks of periodic illness in humans. Their influence on the further course of amyloidosis requires further study. Emerging reports of the use of colchicine in amyloidosis associated with periodic illness are encouraging in this regard.
The use of hemodialysis and kidney transplantation in the development of renal failure due to amyloidosis has not been widely used until recently. This is primarily due to the established view that this treatment is inappropriate for any systemic disease due to the possibility fatality due to failure of another organ (for example, the heart).
The final answer to the question whether amyloid appears in the graft has also not been received. But despite this, attempts have been made to these types of treatment for amyloidosis. Thus, N. Jones (1976) reported on the use of regular hemodialysis in 29 patients with maximum term treatment for 63 months and kidney transplantation in 21 patients (including five kidneys from living donors) with a maximum period of functioning of a transplanted kidney for more than 3 years. Based on the analysis of these, although few, observations, it was concluded that the presence of amyloidosis alone should not serve as a basis for refusing to use regular hemodialysis and kidney transplantation.
In this way, active treatment amyloidosis of the kidneys is still imperfect, however, ongoing studies of amyloidogenesis and the study of the effects on individual era links can make the prognosis for this disease more optimistic.
Clinical Nephrology
ed. EAT. Tareeva
Amyloidosis is a disease associated with impaired protein metabolism. At the same time, a special protein, amyloid, is synthesized mainly in the liver. This protein is deposited in the tissues of one or more organs, causing the corresponding symptoms.
Most often, amyloidosis develops with Bechterew's disease, less often with other systemic diseases of the connective tissue.
Amyloidosis mainly affects the kidneys, as well as the tissues of the liver, spleen, tongue, other parts of the gastrointestinal tract, joints, heart, skin, etc.
Kidney damage in amyloidosis
The first 3 stages of amyloidosis of the kidneys are characterized mainly by changes in the analysis of urine.Kidney damage is very characteristic of amyloidosis.
Stages of amyloidosis of the kidneys:
- Latent. External symptoms not at this time. In the urine, protein is inconsistently determined, in the blood the protein composition changes, the ESR rises.
- Proteinuric. It doesn't show up on the outside either. Protein is constantly present in the urine, but kidney function does not suffer.
- Nephrotic. In urine in high concentration protein is present. As a result, there is a decrease in the protein content in the blood and a change in its composition. Edema may appear at this stage.
- Azotemic. At this stage, kidney function is significantly affected. As a result, metabolic products accumulate in the body, which the kidneys cannot remove. The content of urea and creatinine in the blood increases (azotemia develops). This gives rise to chronic poisoning these substances (azotemic intoxication). The main symptoms caused by azotemia: loss of appetite, vomiting, diarrhea, exhaustion, drowsiness, skin itching. Anemia develops, which is manifested by pallor, dizziness, loss of working capacity. Violation of filtration in the kidneys and uremia cause pronounced edema. They are dense in amyloidosis, the skin over them is pale, their appearance does not depend on the position of the patient and on the time of day. There may be blood in the urine (hematuria). When there is a persistent increase blood pressure, poorly treatable. With an increase in the content of nitrogenous slags in the blood, the patient's condition rapidly deteriorates. Without treatment, severe kidney failure is fatal.
Other symptoms of amyloidosis
As a result of the deposition of amyloid in the liver, it increases. This is manifested by constant heaviness, pain in the right hypochondrium. The pressure in the veins may increase carrying blood to the liver, portal hypertension occurs. It is characterized by the accumulation of fluid in the abdominal cavity and an increase in the abdomen (ascites), the appearance of dilated veins on the skin of the abdomen in the form of the head of the Gorgon Medusa, diverging from the navel in different directions. Sometimes there is stagnation of bile inside the hepatic ducts, which is manifested by skin itching, yellowing of the sclera, and in severe cases, the skin.
Enlargement of the spleen often does not manifest itself in any way, but the risk of rupture of this organ increases with a minor injury to the abdomen.
deposition of amyloid. Sometimes the tongue is not enlarged, but loses its flexibility and is strongly compacted.
Damage to the esophagus, stomach, intestines can cause bleeding from the walls of these organs, which is manifested by symptoms of blood loss (pallor, cold sweat, weakness, loss of consciousness). Sometimes massive deposits of amyloid cause phenomena intestinal obstruction- Abdominal pain, bloating, no stool.
When amyloid is deposited in the intestinal wall, its absorption function is disturbed. There is a syndrome of malabsorption, i.e., poor absorption. It is accompanied by constant diarrhea, sharp weight loss.
Amyloid can be deposited in articular cartilage and arthritis occurs. The carpal, shoulder, knee joints are affected, often symmetrically. The joints are swollen, a little painful.
When amyloid is deposited in the muscles, they thicken and increase in volume. Developing muscle weakness. Carpal tunnel syndrome can be defined - numbness and pain in the first three fingers of the hand, spreading to the forearm.
Due to the formation of cysts in the bones, their fractures are possible.
With the defeat of the respiratory system, hoarseness of the voice appears, and sometimes - (cough, shortness of breath).
Sometimes there is damage to the heart. It is manifested by an increase in this organ, rhythm disturbances. Gradually, heart failure develops - shortness of breath occurs during exercise, and then at rest. Later edema joins. If amyloid is deposited in the walls coronary vessels, then attacks similar to angina pectoris may appear: pressing, burning pain behind the sternum during exercise, and then at rest.
Skin lesions are manifested by the formation of plaques slightly rising above its surface - papules. They do not itch, have a waxy appearance, are located mainly in the axillary, anal, inguinal region, as well as on the face and neck. Light rubbing of these papules with a finger can cause subcutaneous hemorrhage. Sometimes there is a hemorrhagic syndrome (increased bleeding) with hemorrhages around the eyes (“raccoon eyes”, “spectacle symptom”).
Amyloidosis also affects the nervous system. There are signs of damage to the peripheral nerves. Sensitivity may be disturbed, pain appears in different parts of the body. When defeated motor nerves there are movement disorders, paralysis. Characteristic is the gradual spread of such disorders from distant parts of the limb (distal) to those located closer to the body (proximal).
Involvement of the autonomic nervous system is manifested by a tendency to a sharp decrease in blood pressure during the transition from horizontal to vertical position(orthostatic hypotension). There is also a movement disorder of the intestines and diarrhea. Characteristic dysfunctions pelvic organs, including erectile dysfunction.
Amyloidosis treatment
The main direction of treatment of amyloidosis is the therapy of the underlying disease. When the rheumatic disease is in remission, there is an improvement, and sometimes even the reverse development of amyloidosis.
Prescribing large doses of vitamin C, eating raw liver is ineffective, although such methods were previously used.
What can you do?
In the diet of a person suffering from amyloidosis of the kidneys, the amount of salt should be sharply limited. - With amyloidosis of the kidneys, it is necessary to limit daily intake table salt up to 1-2 g per day.
- With edema, wearing elastic (compression) stockings helps.
- With amyloidosis of the kidneys, it is necessary to control the amount of fluid drunk per day and daily diuresis (the amount of urine excreted). It is necessary to ensure that the amount of liquid does not exceed the volume of urine.
- Blood pressure should be measured regularly.
- If the patient has orthostatic arterial hypotension (a drop in blood pressure when getting out of bed), salt intake should be increased to 5–6 g per day (taking into account the condition of the heart and kidneys). Wearing elastic stockings also helps in this case.
- If the patient is concerned about diarrhea, you need to reduce the consumption of solid fats (margarine, butter, lard, lamb, cooking oil, etc.) to 40 g per day. Need to replace these fats vegetable oils containing polyunsaturated fatty acids.
What can a doctor do?
Medical treatment of amyloidosis itself is a long and difficult process.
First of all, it is necessary to treat the underlying disease that caused amyloidosis.
In the treatment of various forms of amyloidosis, combinations of cytostatic, glucocorticosteroid agents, melphalan, colchicine, etc. are used. Treatment often has a course character.
Autologous stem cell therapy (the body's own undifferentiated cells) may be used.
In amyloidosis of the kidneys, the administration of fresh frozen plasma and protein preparations is used to maintain the level of protein in the blood. Patients in the azotemic stage of kidney damage undergo hemodialysis sessions. Kidney transplantation indicated; however, with the progression of the underlying disease, the transplanted kidney will also undergo amyloidosis.
In the treatment of heart failure in amyloidosis, loop diuretics (Furosemide), low doses of ACE inhibitors are used. If heart rhythm disturbances develop (atrioventricular blockade, etc.), a pacemaker is installed.
Treatment of other symptoms of amyloidosis is sporadic, aimed at reducing their severity and improving the patient's well-being.
Which doctor to contact
Amyloidosis is a systemic process that occurs mainly against the background of rheumatic diseases, so a rheumatologist is most often involved in its treatment and diagnosis. Since the disease can affect different organs and systems, specialized specialists are involved in therapy: for kidney amyloidosis - a nephrologist, liver damage - a hepatologist, gastrointestinal tract - a gastroenterologist and a surgeon. If amyloid is deposited in the heart, it is necessary to consult a cardiologist, in the lungs - a pulmonologist, in case of voice changes, you need to contact an ENT doctor. Skin lesions require examination by a dermatologist, with amyloidosis of peripheral nerves, a neurologist will help.
Kidney damage may indicate:
- Proteinuria ( the appearance of protein in the urine). It is the first and most significant manifestation of kidney damage in amyloidosis. Normally, the concentration of protein in the urine does not exceed 0.033 g / l, however, if the integrity of the renal filter is violated, blood cells and large molecular proteins begin to be excreted in the urine. Proteinuria more than 3 g / l indicates a pronounced nephrotic syndrome and severe damage renal tissue.
- Hematuria ( the appearance of red blood cells in the urine). Normally, with a microscopic examination of urine, no more than 1-3 erythrocytes are allowed per field of view. Blood in the urine may indicate the development of nephrotic syndrome or be a sign of an inflammatory lesion of the renal tissue ( glomerulonephritis).
- Leukocyturia ( the appearance of leukocytes in the urine). Microscopic examination of urine allows the presence of 3-5 leukocytes in the field of view. Leukocyturia is rarely observed in renal amyloidosis and more often indicates the presence of an infectious and inflammatory disease of the kidneys or other organs. genitourinary system.
- Cylindruria ( the presence of casts in the urine). Cylinders are casts that form in the renal tubules and have a different structure. In amyloidosis, they are usually formed from desquamated renal epithelial cells and proteins ( hyaline casts), but may also contain erythrocytes and leukocytes.
- Decreased density of urine. The normal density of urine ranges from 1.010 to 1.022, however, with the destruction of the renal nephrons, the concentration ability of the organ decreases markedly, as a result of which the density of urine will decrease.
Blood chemistry
This study allows not only to assess the functional state of internal organs, but also to suspect the cause of amyloidosis.Diagnostic value in amyloidosis are:
- proteins of the general phase of inflammation;
- cholesterol level;
- the level of proteins in the blood;
- creatinine and urea levels.
These proteins are produced by the liver and some white blood cells in response to the development of an inflammatory process in the body. Their main function is to maintain inflammation, as well as prevent damage to healthy tissues.
Squirrels acute phase inflammation
| Protein | Normal values |
| Serum protein amyloid A(SAA) | Less than 0.4 mg/l. |
| Alpha 2 globulin | M: 1.5 - 3.5 g / l. |
| AND: 1.75 - 4.2 g / l. | |
| Alpha 1 antitrypsin | 0.9 - 2 g / l. |
| C-reactive protein | Not more than 5 mg/l. |
| fibrinogen | 2 - 4 g / l. |
| lactoferrin | 150 - 250 ng / ml. |
| ceruloplasmin | 0.15 - 0.6 g / l. |
It should be noted that a progressive increase in the concentration of fibrinogen in the blood is often found in hereditary forms amyloidosis, which must be taken into account when assessing this indicator.
Liver tests
AT this group includes a number of indicators to assess the functional state of the liver.
Liver tests for liver amyloidosis
| Index | What does | Norm | Changes in liver amyloidosis |
| Alanine aminotransferase(AlAT) | These substances are contained in the liver cells and enter the bloodstream in large quantities only with massive destruction of the tissue of the organ. | M: up to 41 U / l. | The concentration increases with the development of liver failure. |
| AND:
up to 31 U / l. |
|||
| Aspartate aminotransferase(ASAT) | |||
| Bilirubin total | When RBCs break down in the spleen, unbound bilirubin is formed. With the blood flow, it enters the liver, where it binds to glucuronic acid and, in this form, is excreted from the body as part of bile. | 8.5 - 20.5 µmol/l. | The concentration increases with massive deposition of amyloid in the liver. |
| Bilirubin (unrelated faction) | 4.5 - 17.1 µmol / l. | The concentration increases with liver failure and violation of the bile-forming function of the organ. | |
| Bilirubin (related faction) | 0.86 - 5.1 µmol / l. | The concentration increases with compression of the intrahepatic or extrahepatic bile ducts. |
Blood cholesterol level
Cholesterol is a fatty substance that is formed in the liver and plays an important role in maintaining the integrity of the membranes of all body cells. An increase in the concentration of cholesterol in the blood of more than 5.2 mmol / l can be observed with nephrotic syndrome, and the higher this indicator, the more severe the disease.
The level of proteins in the blood
The norm of total protein in the blood is 65 - 85 g / l. A decrease in this indicator can be observed with the development of nephrotic syndrome ( due to loss of protein in the urine), as well as in severe liver failure, since all body proteins are synthesized in the liver.
Creatinine and urea levels
Urea ( norm - 2.5 - 8.3 mmol / l) is a by-product of protein metabolism that is excreted through the kidneys. Creatinine ( the norm is 44 - 80 µmol / l in women and 74 - 110 µmol / l in men) is formed in muscle tissue, after which it enters the bloodstream and is also excreted by the kidneys. An increase in the concentration of these substances in the blood is a very sensitive indicator of the degree of impaired renal function in amyloidosis.
Ultrasound examination of internal organs
This study allows assessing the structure and structure of internal organs, which is necessary to assess the degree of violation of their function and determine the prevalence of the pathological process.Ultrasound in amyloidosis can reveal:
- Compaction and increase ( or decrease in the azotemic stage) kidneys.
- Presence of renal cysts what could cause secondary amyloidosis).
- Enlargement and thickening of the liver and spleen, as well as impaired blood flow in these organs.
- hypertrophy various departments heart muscle.
- Amyloid deposits in the walls of large vessels ( For example, the aorta is the largest artery in the body.).
- Accumulation of fluid in body cavities ascites, hydrothorax, hydropericardium).
genetic research
Genetic testing is ordered if hereditary amyloidosis is suspected ( that is, if it is not possible to confirm the secondary nature of the disease). Usually, a polymerase chain reaction is used for this, the principle of which is to take genetic material from a sick person ( usually blood, urine, saliva, or any other bodily fluid) and the study of genes on certain chromosomes. Revealing genetic mutations in a certain area will be one hundred percent confirmation of the diagnosis.If one of the forms of hereditary amyloidosis is detected, a genetic study is recommended for all family members and close relatives of the patient in order to exclude the presence of this disease in them.
Biopsy
A biopsy is a lifetime taking a small piece of tissue or an organ and examining it in the laboratory using special techniques. This study is the "gold standard" in the diagnosis of amyloidosis and allows you to confirm the diagnosis in more than 90% of cases.With amyloidosis for research can be taken muscle, tissue of the liver, spleen, kidney, intestinal mucosa or other organ ( depending on the clinical picture of the disease). The sampling is carried out in a sterile operating room, usually under local anesthesia. With the help of a special needle with sharp edges, the skin is punctured and a small amount of organ tissue is taken.
In the laboratory, part of the obtained material is treated with Lugol's solution ( iodine in an aqueous solution of potassium iodide), followed by 10% sulfuric acid solution. In the presence of a large amount of amyloid, it will turn blue-violet or greenish color that will be visible to the naked eye.
For microscopic examination material is dyed with special dyes ( for example, Congo red, after which amyloid acquires a specific red color), and examined under a microscope, with amyloid fibrils clearly defined as randomly located rod-shaped formations.
Amyloidosis treatment
It is quite difficult to identify amyloidosis and start treatment at the early stages of its development, since the disease manifests itself clinically decades after its onset. At the same time, with severe renal insufficiency medical measures ineffective and supportive. Is hospitalization required to treat amyloidosis?
If amyloidosis is suspected, hospitalization in the department of nephrology or therapy is recommended in order to conduct a thorough examination of the genitourinary system, since kidney damage is the most frequent and at the same time the most dangerous complication amyloidosis. Specialists from other fields of medicine should also be involved ( hepatologist, cardiologist, neurologist and so on) to identify and treat damage to other organs and systems.If during the diagnostic process no serious functional disorders were detected on the part of any organs, further treatment can be done on an outpatient basis at home) provided that the patient will strictly comply with all doctor's prescriptions and come to the control at least once a month.
The main indications for hospitalization are:
- the presence of a systemic inflammatory process ( laboratory or clinically confirmed);
- the presence of a purulent infectious disease;
- nephrotic syndrome;
- kidney failure;
- liver failure;
- heart failure;
- adrenal insufficiency;
- severe anemia ( hemoglobin concentration less than 90 g/l);
- hypersplenism;
- internal bleeding.
In the treatment of amyloidosis is used:
- drug treatment;
- diet therapy;
- peritoneal dialysis;
- organ transplant.
Medical treatment
Drug treatment is aimed at slowing down the process of amyloid formation ( if possible). Good efficacy is observed in the case of AL-amyloidosis, while in other forms of the disease it is not always possible to achieve a positive result. Worst of all drug treatment amenable to secondary amyloidosis.Medical treatment of amyloidosis
| Drug group | Representatives | Mechanism therapeutic effect | Dosage and administration |
| Steroid anti-inflammatory drugs | Prednisolone | Inhibit immune reactions, have a pronounced anti-inflammatory effect. They reduce the rate of formation of lymphocytes, and also inhibit the migration of leukocytes to the focus of inflammation, which is the reason for the positive effect in amyloidosis. | Dosage, duration of use and route of administration is selected individually in each case, depending on the severity of the underlying and concomitant diseases. |
| Dexamethasone | |||
| Anticancer drugs | Melphalan | Disrupts the process of DNA formation ( deoxyribonucleic acid), which inhibits protein synthesis and cell reproduction. Since amyloidoblasts are considered to be mutant to a certain extent ( tumor) cells, their destruction can slow down the formation of amyloid ( especially in the primary form of the disease). | Inside, once a day at a dose of 0.12 - 0.15 mg / kg. The duration of treatment is 2-3 weeks, after which it is necessary to take a break ( at least 1 month). If necessary, the course of treatment can be repeated. |
| Aminoquinoline drugs | Chloroquine (hingamin) | An antimalarial drug that also inhibits DNA synthesis in cells human body, reducing the rate of formation of leukocytes and amyloidoblasts. | Inside, 500 - 750 mg daily or every other day. The duration of treatment is determined by the effectiveness and tolerability of the drug. |
| Anti-gout drugs | Colchicine | It inhibits the rate of formation of leukocytes and the process of synthesis of amyloid fibrils in amyloidoblasts. Effective in familial Mediterranean fever and to a lesser extent in secondary amyloidosis. | Inside, 1 mg 2-3 times a day. Long term treatment ( over 5 years). |
diet therapy
There is no specific diet that could prevent the development of amyloidosis or slow down the process of amyloid formation. The main complications of amyloidosis requiring a strict diet are nephrotic syndrome and renal failure. With the development of these syndromes, diet number 7 is recommended, the purpose of which is to protect the kidneys from the action of toxic metabolic products, normalize the water-salt balance and blood pressure.It is recommended to eat food in small portions 5-6 times a day. The main condition is to limit the consumption of table salt ( no more than 2 grams per day) and liquids ( no more than 2 liters per day), which to a certain extent prevents the formation of edema and normalizes blood pressure. The difficulty in this case lies in the need to replenish protein losses in nephrotic syndrome and at the same time reduce their intake with food, since renal failure disrupts the process of excretion of by-products of their metabolism.
Diet for amyloidosis
| What is recommended to use? | What is not recommended? |
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Peritoneal dialysis
The principle of this method is similar to the principle of hemodialysis ( which is described earlier), but there are some differences. In peritoneal dialysis, the semipermeable membrane through which the removal of metabolic by-products occurs is the peritoneum - thin, well supplied with blood. serosa lining inner surface and abdominal organs. The total area of the peritoneum is close to the surface area of the human body. A special solution is introduced into the abdominal cavity through a catheter ( tube in the stomach) and comes into contact with the peritoneum, as a result of which metabolic products begin to seep into it from the blood, that is, the body is cleansed. The "disadvantage" of this method is a slower blood purification than with hemodialysis.The main advantages of this method over hemodialysis are:
- Excretion of B 2 -microglobulin, which can cause the development of amyloidosis.
- Constant ( continuous) purification of the blood from metabolic by-products.
- Can be used on an outpatient basis at home).
The catheter is placed in the operating room under local or general anesthesia. It is usually installed at the bottom abdominal wall, and only a small segment of it comes out. About 2 liters of a special dialysis solution is injected through the catheter into the abdominal cavity, after which the catheter is tightly closed and the fluid remains in the abdominal cavity for a period of 4 to 10 hours. During this time, the patient can engage in almost any daily activity.
After a set period of time ( usually every 6 to 8 hours) it is necessary to drain the "old" solution from the abdominal cavity and replace it with a new one. The whole procedure takes no more than 30-40 minutes and requires minimal effort.
Peritoneal dialysis is contraindicated:
- in the presence of adhesions in the abdominal cavity;
- with infectious diseases of the skin in the abdomen;
- with mental illness.
Organ transplant
Donor organ transplantation is the only way to save the lives of patients with advanced organ failure. However, it is worth remembering that this method treatment is only symptomatic and does not eliminate the cause of the development of amyloidosis, therefore, in the absence of constant adequate treatment, a relapse of the disease is possible.With amyloidosis, it is possible to transplant:
- kidney;
- liver tissue;
- heart;
- skin.
If the donor organ takes root ( which doesn't always happen), the patient requires lifelong use of immunosuppressants ( activity-inhibiting drugs immune system ) to prevent rejection of the "foreign" tissue by the body's own.
Complications of amyloidosis
The consequences of amyloidosis usually include various acute conditions developing against the background of impaired functions of one or more organs. Often these complications lead to the death of the patient. The most dangerous complications of amyloidosis are:
- Myocardial infarction. With an increase in systemic blood pressure ( always observed in nephrotic syndrome and renal failure) the load on the heart muscle increases several times. This condition is aggravated by the deposition of amyloid in the tissue of the heart, which further impairs its blood supply. As a result, during sudden physical exertion or emotional stress, a discrepancy between the need of the heart muscle for oxygen and the level of its delivery may develop, which can lead to the death of cardiomyocytes ( muscle cells of the heart). If a person does not die immediately ( which is seen quite often), a scar is formed in the infarction zone, which further “weakens” the heart ( since scar tissue is not able to contract) and can lead to congestive heart failure.
- Stroke. A stroke is an acute interruption of the blood supply to the brain tissue. In amyloidosis, the condition usually develops as a result of bleeding through a deformed blood vessel wall ( hemorrhagic stroke). As a result of impregnation of nerve cells with blood, they die, which, depending on the area of the stroke, can manifest itself in the most different symptoms- from impaired sensitivity and motor activity to the death of the patient.
- Thrombosis of the hepatic veins. This complication may develop as a result of an increase in the concentration of fibrinogen ( blood coagulation protein) in the renal vein system, which leads to the formation of blood clots, which clog the lumen of the vessels. As a result, acute renal failure develops. Development mechanism this complication due to the fact that in nephrotic syndrome a large amount of albumin is excreted through the kidneys ( major plasma proteins), while fibrinogen remains in the blood and its relative concentration increases.
- Infectious diseases. The depletion of defense systems, the loss of a large amount of proteins in the urine and the development of multiple organ failure makes the patient's body practically defenseless against various pathogenic microorganisms. Amyloidosis is often associated with pneumonia ( pneumonia), pyelonephritis and glomerulonephritis, skin infections ( erysipelas ) and soft tissues, food poisoning, viral infections ( e.g. parotitis) and so on.
Is pregnancy possible with amyloidosis?
Pregnancy with amyloidosis is possible only in cases where functional activity vital important organs women are enough to carry and give birth to a child. Otherwise, the pregnancy may end in the death of both the fetus and the mother. Some local forms of amyloidosis do not pose any danger to pregnancy. If the accumulation of amyloid occurs in only one organ or tissue ( for example, in a muscle or in the intestinal wall) and does not reach large sizes, pregnancy and childbirth will proceed without complications, and the child will be born absolutely healthy. At the same time, in generalized forms of amyloidosis, the prognosis for the mother and fetus is entirely determined by the duration of the disease and the remaining functional reserves of vital organs.
The outcome of pregnancy and childbirth is determined by:
- heart functions;
- kidney function;
- liver functions;
- functions of the adrenal glands;
- rate of amyloid formation.
A dangerous complication of amyloidosis is heart failure ( CH), which develops due to the deposition of amyloid in the tissue of the heart. This leads to disruption contractile activity, as a result of which certain symptoms appear during exercise - weakness, shortness of breath ( feeling short of breath), heart palpitations, chest pain. Since the bearing of a child and childbirth are accompanied by a significant load on the heart, damage to this organ can cause serious complications during pregnancy.
Depending on the severity, 4 functional classes of heart failure are distinguished. The first is characterized by the appearance of symptoms only during extremely heavy physical exertion, while the fourth is exhibited to patients who cannot take care of themselves. Women with functional class I - II can safely bear a child, but artificial delivery is recommended for them ( by caesarean section). In the presence of III - IV functional class, pregnancy and childbirth are absolutely contraindicated, since the body in this case will not be able to cope with the increasing load. The probability of death of the fetus and mother in this case is extremely high, therefore, artificial termination of pregnancy is recommended ( abortion by medical indications ).
Kidney Functions
The developing fetus needs a constant supply of various nutrients, including proteins. However, with the deposition of amyloid in the kidneys of the mother, the destruction of the kidney tissue occurs, as a result of which blood cells and large molecular proteins begin to be excreted in the urine, which ultimately leads to severe protein deficiency, edema and ascites ( accumulation of fluid in the abdominal cavity). The fetus also begins to lack protein ( which are the main building material for a growing organism), as a result of which there may be a delay in development, and after birth, malformations, stunting, mental and mental abnormalities may be noted.
The extreme degree of kidney damage in amyloidosis is chronic renal failure, in which the kidneys are unable to remove metabolic by-products from the body. As a result, they accumulate in the mother's blood, exerting a toxic effect on all organs and systems, which can also affect the condition of the fetus ( from slight delay development to fetal death).
Liver functions
When amyloid is deposited in the liver tissue, the blood vessels of the organ are squeezed, resulting in an increase in pressure in the so-called portal vein, which collects blood from all unpaired organs of the abdominal cavity ( from the stomach, intestines, spleen and other). The veins of these organs expand, and their walls become thinner. With a further increase in pressure, the liquid part of the plasma begins to leave the vascular bed and accumulate in the abdominal cavity, that is, ascites develops. If it accumulates enough, it begins to put pressure on the growing fetus. This can result in developmental delay, various congenital anomalies, and with severe intense ascites ( if the amount of liquid exceeds 5 - 6 liters) intrauterine fetal death may occur.
Adrenal functions
AT normal conditions adrenal glands secrete certain hormones involved in the regulation metabolic processes in the body. When affected by amyloidosis, the number functional tissue in these organs decreases, resulting in a marked decrease in hormone production.
During pregnancy, the adrenal hormone cortisol plays an important role, the function of which is to activate adaptive mechanisms in the mother's body. With its deficiency, these mechanisms are extremely weak or completely absent, as a result of which any physical or emotional trauma can lead to the death of the fetus and mother.
Rate of amyloid formation
Usually, this process proceeds rather slowly, which is why at least ten years pass from the onset of the disease to the development of multiple organ failure. However, in some cases ( usually with secondary amyloidosis, which develops against the background of chronic purulent inflammatory processes in the body) amyloid is formed very quickly. This can result in amyloid infiltration of placental vessels ( organ responsible for metabolism between mother and fetus), which will lead to oxygen starvation fetus, developmental delay, or even intrauterine death.
Does amyloidosis occur in children?
Children suffer from amyloidosis somewhat less frequently, which is obviously related to the time required for the development of the pathological process ( it usually takes several years). However, in some forms of hereditary amyloidosis, as well as in secondary amyloidosis, internal organs may be affected in early childhood. The cause of amyloidosis in children can be:
- Family mediterranean fever. A genetically determined disease that is inherited in an autosomal recessive manner, that is, a child will be born sick only if he inherits the defective genes from both parents. If a child receives a defective gene from one parent, and a normal one from the second, he will be an asymptomatic carrier of the disease, and his children can inherit defective genes with a certain degree of probability. Clinically, this disease is manifested by generalized amyloidosis, which develops in the first 10 years of life. The renal tissue is predominantly affected. In addition to amyloidosis, there are bouts of fever ( fever, chills, increased sweating) and mental disorders.
- English amyloidosis. It is characterized by a predominant lesion of the kidneys, as well as bouts of fever and hearing loss.
- Portuguese amyloidosis. The clinical picture is dominated by damage to the nerves of the lower extremities, which is manifested by a feeling of crawling, impaired sensitivity and movement disorders. The prognosis for life is favorable, but paralysis often develops ( inability to perform voluntary movements).
- American amyloidosis. It is characterized by a predominant lesion of the nerves of the upper extremities. Clinical manifestations are the same as in Portuguese amyloidosis.
- secondary amyloidosis. This form disease develops in the presence of chronic purulent-inflammatory processes in the body ( tuberculosis, osteomyelitis, syphilis and others). If the baby was infected during childbirth or immediately after birth, it is likely that after 5 to 10 ( and sometimes less) years, he will begin to show the first signs of generalized amyloidosis. The prognosis in this case is extremely unfavorable - multiple organ failure develops quite quickly and death occurs. The treatment given positive results only half the time and short span time after which the disease usually recurs ( escalates again).
Is there an effective prevention of amyloidosis?
Effectiveness of primary prevention ( aimed at preventing the development of the disease) depends on the form of amyloidosis and the timeliness of preventive measures. Secondary prevention (aimed at preventing recurrence of the disease) is ineffective and does not give the desired results. Prevention of amyloidosis
| Form of amyloidosis | a brief description of | Preventive actions |
| Primary(idiopathic amyloidosis) | The cause of this form of the disease is unknown. | None. |
| hereditary amyloidosis | The development of amyloidosis in this case is associated with the presence of mutant genes on certain chromosomes ( in the human genetic apparatus there are only 23 pairs of them). These genes are passed down from generation to generation, as a result of which all the offspring of a sick person can develop amyloidosis with a certain degree of probability. Defective genes trigger the formation of mutant cells ( amyloidoblasts), synthesizing fibrillar proteins, which are subsequently converted into amyloid and deposited in body tissues. |
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| Secondary amyloidosis | The development of this form of the disease occurs during a chronic inflammatory process in the body - with glomerulonephritis ( inflammation of the kidney tissue), tuberculosis, osteomyelitis ( purulent process in bone tissue) and others. In this case, the concentration of a special protein in the blood increases - the serum amyloid precursor, which causes the development of the disease. | Prevention consists in timely and full treatment chronic inflammatory and purulent processes in the body. This is done by using antibacterial drugs a wide range actions ( penicillins, ceftriaxone, streptomycin, isoniazid and others) until the disappearance of clinical and laboratory manifestations disease, as well as for a certain period of time after a complete cure. |
How long do people with amyloidosis live?
In the presence of a detailed clinical picture of amyloidosis ( with symptoms of multiple organ failure) the prognosis is generally poor - more than half of patients die within the first year after diagnosis. However, more often it is possible to diagnose the disease in more early dates. In this case, the prognosis for life is determined by the form of amyloidosis, as well as the severity of damage to vital organs. In any form, the disease is more severe in older people. Survival of patients with amyloidosis is affected by:
- Kidney function. With the development of renal failure, the patient dies within a few months. Hemodialysis ( blood purification with a special device) prolongs the life of the patient by 5 years or more. Kidney transplantation may be an effective treatment, but amyloid deposition in donor organ observed in more than half of the cases.
- Liver function. When expressed portal hypertension (increased pressure in the portal vein) there is an expansion of the veins of the internal organs ( intestines, esophagus, stomach). A patient with such symptoms can die at any time as a result of bleeding from a ruptured vein. The life expectancy of these patients radical treatment (liver transplants) does not exceed 1–2 years.
- Function of the heart. With the development of grade VI heart failure, most patients die within 6 months. Heart transplantation can prolong the life of patients ( provided that other organs and systems function normally).
- bowel function. In intestinal amyloidosis, malabsorption can reach extreme expressiveness. In the absence specific treatment (complete intravenous nutrition) the death of the patient can occur within a few weeks due to the extreme degree of exhaustion of the body ( cachexia).
- Idiopathic generalized amyloidosis. The cause of the disease is unknown. It manifests itself in the defeat of all organs and tissues, rapid development multiple organ failure and death of the patient. A year after the diagnosis, only 51 people out of a hundred remain alive. The five-year survival rate is 16%, while the ten-year survival rate is no more than 5%.
- hereditary amyloidosis. If the disease develops in early childhood, the prognosis is poor. Death usually occurs due to kidney failure within a few years of diagnosis.
- secondary amyloidosis. Forecast is determined functional state internal organs. The main cause of death in this form of the disease is also chronic renal failure.
Can amyloidosis be cured with folk remedies?
Exist folk methods which have been used for many years in the treatment of this disease. However, it should be noted that self-treatment with such serious illness as amyloidosis can lead to the most undesirable consequences, therefore, before starting the use of alternative recipes, it is strongly recommended to consult a doctor. For amyloidosis, you can use:
- Herbal anti-inflammatory infusion. The composition includes fresh flowers of field chamomile ( have anti-inflammatory and antimicrobial action ), immortelle flowers ( have an anti-inflammatory effect, and also improve the excretion of bilirubin with bile), St. John's wort ( increases physical and mental endurance) and Birch buds (have a diuretic effect). To prepare the infusion, place 200 grams of each ingredient in a glass jar and pour a liter of boiling water. After that, tightly close the lid and leave in a dark place for 5-6 hours. Take 200 ml once a day at bedtime. The duration of continuous treatment is not more than 3 months.
- Infusion from the fruits of mountain ash and blueberries. To prepare the infusion, you need to take 100 grams of the fruit of each berry and pour a liter of boiling water. After half an hour, strain, let cool and take 100 ml 3 times a day before meals. The infusion has anti-inflammatory and astringent action.
- Infusion from deaf nettle. This plant contains tannins, ascorbic acid, histamine and many other substances. It is used for chronic infectious diseases of the kidneys. To prepare the infusion, 3-4 tablespoons of chopped nettle herb should be poured into a thermos with 500 milliliters hot water (not boiling water) and take 100 milliliters 4 to 5 times a day.
- Infusion of juniper fruit. It has anti-inflammatory, antimicrobial, choleretic and diuretic effects. To prepare the infusion 1 tablespoon dried berries it is necessary to pour 1 liter of boiling water and insist in a dark place for 2 to 4 hours. Take 1 tablespoon 3-4 times daily before meals.
- Tincture of grass of sowing oats. It has anti-inflammatory and general tonic effect. Increases the efficiency and stress resistance of the body. To prepare the tincture, pour 200 mg of crushed oat herb with 70% alcohol and infuse in a dark place for 3 weeks, shaking the jar daily. After that, strain and take 1 teaspoon 3 times a day, diluted in 100 ml of warm boiled water.
Amyloidosis is a disease based on protein metabolism disorders. With this disease in tissue structure internal organs or throughout the body, amyloid, a protein substance formed during the degeneration of fat cells, begins to be deposited.
According to statistical data, middle-aged and elderly men are more likely to suffer from amyloidosis. Amyloidosis of the kidneys is detected in approximately 1-2 patients per 100,000 inhabitants.
What it is?
Amyloidosis is a systemic disease characterized by the extracellular deposition of various insoluble proteins. These proteins may accumulate locally, causing symptoms, or they may wide use, including many organs and tissues, causing significant systemic disorders and lesions.
The reasons
The reasons for the predominant damage to certain organs (kidneys, intestines, skin) are unknown.
The signs and course of the disease are varied and depend on the localization of amyloid deposits, the degree of their prevalence in the organs, the duration of the disease, and the presence of complications.
More often, a complex of symptoms associated with damage to several organs is observed.
Classification
There are six types of amyloidosis:
- AH-amyloidosis appears due to hemodialysis, when a certain immunoglobulin is not filtered, but accumulates in body tissues;
- AE amyloidosis occurs in thyroid tumors;
- Finnish-type amyloidosis is a rare genetic mutation.
- Primary AL-amyloidosis is a consequence of the accumulation of abnormal chains of immunoglobulins in the blood (the protein is deposited in the heart, lungs, skin, intestines, liver, kidneys, blood vessels and thyroid gland)
- Secondary amyloidosis (AA-type). More common type. It mainly occurs due to inflammatory lesions of organs, chronic destructive diseases,. Secondary amyloidosis of the kidneys can be the result of chronic intestinal diseases (ulcerative colitis,), as well as as a result of tumor growth. Amyloid type AA is formed from the alpha-globulin protein synthesized by the liver in case of a prolonged inflammatory process. A genetic breakdown in the structure of the alpha-globulin protein just leads to the fact that instead of the usual soluble protein, insoluble amyloid is produced.
- Hereditary AF-amyloidosis (Mediterranean fever) has an autosomal recessive mechanism of transmission and occurs predominantly in certain ethnic groups (deposition of protein in the heart, blood vessels, kidneys and nerves).
Most often, the kidneys are affected, less often - the spleen, intestines and stomach. The disease is mainly complex in nature with damage to several organs. The severity of the disease is characterized by its duration, the presence of complications and localization.
Symptoms
The clinical picture of amyloidosis is diverse: the symptoms are determined by the duration of the disease, the localization of amyloid deposits and their intensity, the degree of dysfunction of the organ, and the peculiarity of the biochemical structure of amyloid.
In the initial (latent) stage of amyloidosis, there are no symptoms. Detect the presence of amyloid deposits is possible only with microscopy. In the future, as the deposits of the pathological glycoprotein increase, the functional insufficiency of the affected organ arises and progresses, which determines the features of the clinical picture of the disease.
With amyloidosis of the kidneys long time moderate proteinuria is noted. Then nephrotic syndrome develops. The main symptoms of amyloidosis of the kidneys are:
- the presence of protein in the urine;
- arterial;
- swelling;
- chronic renal failure.
With amyloidosis of the gastrointestinal tract, an increase in the tongue (macroglossia) is noteworthy, which is associated with the deposition of amyloid in the thickness of its tissues. Other manifestations:
- nausea;
- heartburn;
- constipation, followed by diarrhea;
- malabsorption of nutrients from the small intestine (malabsorption syndrome);
- gastrointestinal bleeding.
Cardiac amyloidosis is characterized by a triad of symptoms:
- violation of the heart rhythm;
- cardiomegaly;
- progressive chronic heart failure.
In the later stages of the disease, even minor physical exercise lead to the appearance of severe weakness, shortness of breath. Against the background of heart failure, polyserositis may develop:
- effusion pericarditis;
- effusion pleurisy;
Amyloid lesion of the pancreas usually occurs under the mask chronic pancreatitis. Deposition of amyloid in the liver causes portal hypertension, cholestasis, and hepatomegaly.
With amyloidosis of the skin in the neck, face and natural folds, waxy nodules appear. Often, amyloidosis of the skin in its course resembles lichen planus, neurodermatitis or scleroderma.
Amyloidosis of the nervous system is severe, which is characterized by:
- persistent headaches;
- dizziness;
- orthostatic collapses;
- paralysis or paresis of the lower extremities;
- polyneuropathy.
With amyloidosis of the musculoskeletal system, the patient develops:
- myopathy;
- carpal tunnel syndrome;
- polyarthritis affecting symmetrical joints.
Renal amyloidosis
The development of this disease can occur against the background of already existing chronic diseases in the body. But it can also develop on its own. It is this type of pathology that is considered by clinicians to be the most dangerous. Practically in all clinical cases patients need hemodialysis or organ transplant. Unfortunately, in recent years, the disease has progressed.
Secondary renal amyloidosis is also possible. The latter occurs against the background of acute inflammatory processes, chronic diseases and acute infections. Most often, amyloidosis of the kidneys occurs if the patient has pulmonary tuberculosis.
Renal amyloidosis
Liver amyloidosis
This disease almost never occurs on its own. Most often, it develops along with the same amyloid lesions of other organs: the spleen, kidneys, adrenal glands, or intestines.
Most likely, its cause is immunological disorders or severe purulent infectious and inflammatory diseases. The most striking sign in the manifestation of this disease will be an increase in the liver and spleen. Very rarely it is accompanied by any pain symptoms or jaundice. This disease is characterized by an erased clinic and slow progression. On the final stages diseases can develop numerous manifestations of hemorrhagic syndrome. In such patients, the protective function of the immune system will very quickly decrease, and they will become defenseless against any kind of infection.
The skin also undergoes characteristic changes in liver amyloidosis - it becomes pale and dry. There may be manifestations of portal hypertension and subsequent: amyloidosis gradually kills hepatocytes, and they are replaced by connective tissue.
The most dangerous complication for such patients will be the development of liver failure and hepatic encephalopathy.
Liver amyloidosis
Diagnostics
Amyloidosis is not easy to detect, this will require a number of studies. The secondary form of the disease is easier to detect than the primary, because it has a disease that precedes its occurrence.
The standard study for this disease is amyloid urine samples, using methylene blue and congorot. These chemicals normally change the color of urine, but amyloidosis patients do not.
- In case of liver amyloidosis, a biopsy is used, examining the punctate under a microscope, the diagnostician sees the cells affected by amyloid, determines the degree and stage of development of the disease.
- With amyloidosis of the kidneys, the Kakovsky-Adissa method is used, which makes it possible to detect protein and erythrocytes in the urinary sediment in the early stages of the disease; with the development of nephropathy, protein is found in the urine - albumin, cylinders and many leukocytes.
- According to the ECG study, it is possible to detect amyloidosis of the heart, it is characterized by a low voltage of the teeth, with ultrasound examination the echogenicity of the heart changes, atrial thickening is visualized. These instrumental research allow diagnosing amyloidosis in 50-90% of cases.
Primary amyloidosis is extremely difficult to diagnose, since its manifestations are rarely detected by laboratory tests, most often no specific changes in urine and blood are observed. With the severity of the process, the ESR, the number of platelets can significantly increase, and the hemoglobin content can decrease.
Amyloidosis treatment
The lack of completeness of knowledge about the etiology and pathogenesis of amyloidosis causes difficulties associated with its treatment. In secondary amyloidosis, active therapy of the underlying disease is important.
Nutrition recommendations suggest limiting the intake of salt and protein, including raw liver in the diet. Symptomatic therapy for amyloidosis depends on the presence and severity of certain clinical manifestations.
As pathogenetic therapy, drugs of the 4-aminoquinoline series (chloroquine), dimethyl sulfoxide, unitiol, colchicine can be prescribed. For the treatment of primary amyloidosis, treatment regimens with cytostatics and hormones (melfolan + prednisolone, vincristine + doxorubicin + dexamethasone) are used. With the development of chronic renal failure, hemodialysis or peritoneal dialysis is indicated. In some cases, the question of kidney or liver transplantation is raised.
Forecast
The prognosis depends on the type of amyloidosis and the organ systems involved. AL-amyloidosis with multiple myeloma has the worst prognosis, usually with a lethal outcome within a year. Untreated ATTR amyloidosis is also fatal after 10-15 years. For other forms of familial amyloidosis, the prognosis is different. In general, kidney and heart damage in patients with any type of amyloidosis is a very serious pathology.
The prognosis of AA amyloidosis depends on the success of treatment of the underlying disease, although it is quite rare for patients to experience spontaneous regression of amyloid deposits without such treatment.
