Which organs are most often affected by amyloidosis? Amyloidosis - symptoms, diagnosis and treatment of amyloidosis
– a general, systemic disease of the body in which a specific glycoprotein (amyloid) is deposited in organs and tissues with impaired function of the latter. Amyloidosis may affect the kidneys (nephrotic syndrome, edema syndrome), heart (heart failure, arrhythmias), gastrointestinal tract, musculoskeletal system, leather. 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. To treat amyloidosis, immunosuppressive and symptomatic therapy is carried out; according to indications - peritoneal dialysis, kidney and liver transplantation.
Damage to 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. Damage to the pancreas due to amyloidosis is usually disguised as chronic pancreatitis.
Skin amyloidosis occurs with the appearance of multiple waxy plaques (papules, nodules) in the face, neck, and natural skin folds. By external signs, skin lesions may resemble scleroderma, neurodermatitis or lichen planus. For amyloid lesions of the musculoskeletal system, the development of symmetrical polyarthritis, carpal tunnel syndrome, glenohumeral periarthritis, and myopathy is typical. Certain forms of amyloidosis involving nervous system, may be accompanied by polyneuropathy, paralysis lower limbs, headaches, dizziness, orthostatic hypotension, sweating, dementia, etc.
Diagnostics
Various clinicians may encounter the clinical manifestations of amyloidosis: rheumatologists, urologists, cardiologists, gastroenterologists, neurologists, dermatologists, therapists, etc. A comprehensive assessment of clinical and anamnestic signs and a comprehensive laboratory and instrumental examination are of primary importance for correct diagnosis.
A definitive diagnosis of amyloidosis is possible after detection of amyloid fibrils in the affected tissues. For this purpose, a biopsy of the kidney, lymph nodes, gums, gastric mucosa, and rectum can be performed. Establishing the hereditary nature of amyloidosis is facilitated by a thorough medical-genetic analysis of the pedigree.
Treatment of amyloidosis
The lack of complete knowledge about the etiology and pathogenesis of the disease causes difficulties associated with the treatment of amyloidosis. With secondary amyloidosis important has active therapy background disease. Dietary recommendations suggest limiting the intake of table salt and protein, and 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, unithiol, 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 chronic renal failure 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 renal failure average duration the 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 observed in elderly patients.
Treatment of primary, secondary and hereditary amyloidosis becomes necessary primarily in cases where amyloid deposits are generalized and disease progression leads to severe disorders 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 tumor forms), therapeutic interventions are less necessary.
In the vast majority of cases, therapy for amyloidosis is the treatment of nephropathy that occurs with it, usually detected in the NS stage. 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.
During the period of sufficient nitrogen excretory function of the kidneys, adherence to a full nutritional regimen with a restriction of sodium chloride (table salt) in the presence of edema, parenteral administration whole blood or, better yet, red blood cells for anemia, regulation of the disturbed balance of electrolytes, careful administration of diuretics and antihypertensive drugs, and during the period of renal failure, the use of drugs used for uremia - these are the methods predominantly 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 diuretics and antihypertensive drugs different mechanism actions cannot significantly stop the progression of amyloidosis with the development of renal failure.
All this makes us look for new means of influencing developing amyloidosis, and therefore is of interest successful use and in a number of cases of “liver” therapy, which with a certain convention can be called pathogenetic. This especially applies to treatment with raw liver, long-term use of which leads in some cases to a certain improvement in the condition. N. Grayzell and M. Jacobi. (1938) observed significant improvement(decrease in proteinuria, liver and spleen size, tendency towards normalization of Congo red test parameters) in more than half of the children who received dried liver preparation orally for 2-5 years.
The need for long-term “liver” therapy for amyloidosis is indicated by E. M. Tareev (1958). A daily intake of 80-120 g of raw liver for 6-12 months should be considered optimal, taking into account the possibility of blood eosinophilia.
Currently available data on the pathogenesis of amyloidosis allow us to talk about some other active therapeutic methods and outline the following main ways of pathogenetic treatment:
1) elimination of factors contributing to the formation of amyloid;
2) inhibition of its production;
3) impact on already fallen 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 amyloid precursor (for example, inhibition of the formation of light chains), removal of the resulting amyloid precursors by plasmapheresis, stimulation of phagocytosis with antiserum to amyloid or its components, etc. can be discussed.
The importance of active treatment of the underlying disease in which amyloidosis develops should be emphasized. This applies mainly to secondary amyloidosis with chronic infections and suppurative processes. Thus, cases of disappearance of signs of amyloid nephrosis as a result of active treatment of visceral syphilis have been described.
T. Addis (1948) noted a significant decrease in signs of renal damage under the influence of treatment with bismuth and iodine for 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 that reached the degree of anasarca disappeared, total serum protein increased from 4.8 to 7 .3%, blood cholesterol normalized, proteinuria, which reached 33‰, completely disappeared.
This can also be achieved in case of tuberculosis as a result of long-term use of tuberculostatic drugs [Bernardt 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 represents 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 appeared “disconnected”, uzurized.
At the same time, unequal intensity of staining of amyloid masses was detected in various parts organ. A.I. Abrikosov concludes that in this case we 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 confirmed the opinion of A.I. Abrikosov in all details.
The importance of antibiotics, chemotherapy and surgical interventions as ways to influence the foci that cause and maintain amyloidosis does not decrease in cases of the development of renal failure caused by it. But, unfortunately, it is not always possible that the elimination or achievement of stable remission of the underlying disease can delay the progression of amyloidosis.
To date, the question of the effect of CS on the course of amyloidosis cannot be considered clear. Experimental and clinical data in this regard are contradictory. Indications by a number of authors indicate an acceleration of the development of amyloidosis under the influence of commonly used doses of ACTH, cortisone and prednisolone. This allows us to consider amyloidosis and the NS caused by it as rather contraindications to steroid therapy.
Question about the influence on the course of amyloidosis cytostatic agents and antilymphocyte serum is even less clear (Teilum G., 1954; Catchpole N. et al., 1958; Cardell B., 1961; Rantov P., 1967]. Available data on noticeable change In case of amyloidosis, immune reactions, especially cellular immunity, force one to be very careful about the use of immunoactive agents. The significant acceleration of experimental amyloidosis under the influence of imuran (azathioprine) and especially antilymphocyte globulin, as shown by a number of researchers, including R. G. Arustamova with our participation (1972), confirms this.
True, special attention should be paid to the possibility of using drugs that inhibit the function of certain cell clones, in particular, those synthesizing the 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 was shown, although without a significant effect on the further course of primary amyloidosis.
IN recent years There have been reports of the supposedly successful use of melphalan in primary amyloidosis with kidney damage (Schwartz R. et al., 1979]. However, one should remember the possibility of developing leukemia with long-term 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 V.N. 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 drugs for amyloidosis in humans.
Drugs that have a pronounced tropism for tissue cellular elements, including elements of the reticuloendothelial system, include drugs of the 4-aminoquinoline series (chingamin, resoquine, chloroquine, delagil, plaquenil). The spectrum of action of these antimalarials is far from being limited to a direct effect on the 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 acidic mucopolysaccharides, and the stabilization of lysosomal membranes.
Thus, these drugs can affect processes that play an important role, on the one hand, in the synthesis of amyloid fibrils, and on the other, in the creation of a certain environment: the main substance in which these fibrils are located.
The validity of the use of 4-aminoquinoline drugs for amyloidosis is supported by the results of a study of their effect in experimental (casein) amyloidosis in rabbits [Mukhin N.A., 1966], when in animals receiving delagil a noticeable delay in the appearance was found and less than in the control group. group the severity of biochemical and morphological characteristics diseases under the influence of prolonged saturation with delagil. Among the 4-aminoquinoline drugs, 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 after achieving some success, good tolerance and absence of side effect. As a rule, 4-aminoquinoline drugs are tolerated quite satisfactorily, however, a number of patients experience side effects, which usually manifest themselves in nausea and vomiting in the first weeks of treatment, and in later periods - blurred vision with clouding of the cornea.
You should also be aware of the possibility of leukopenia, skin changes and hair discoloration, abnormalities of 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; in case of 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 of drugs such as colchicine on the development of amyloidosis. Undoubtedly, these drugs reduce the frequency of attacks of periodic illness in humans. Their influence on the further course of amyloidosis requires further additional 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 for the development of renal failure caused by amyloidosis has not become widespread until recently. This is primarily due to the established view that this treatment is inappropriate for any systemic disease due to the possibility fatal outcome due to failure of another organ (for example, the heart).
There is also no definitive answer to the question of whether amyloid appears in the graft. But despite this, attempts have been made to these types of treatments for amyloidosis. Thus, a report by N. Jones (1976) talks about 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 functioning period of the transplanted kidney of more than 3 years. Based on the analysis of these, although not numerous, 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.
Thus, active treatment Renal amyloidosis still remains imperfect, but ongoing research into amyloidogenesis and the study of effects on individual era links may make the prognosis for this disease more optimistic.
Clinical Nephrology
edited by E.M. Tareeva
Amyloidosis is a disease associated with impaired protein metabolism. In this case, 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 ankylosing spondylitis, and less often with other systemic connective tissue diseases.
Amyloidosis primarily affects the kidneys, as well as tissues of the liver, spleen, tongue, other parts of the gastrointestinal tract, joints, heart, skin, etc.
Kidney damage due to amyloidosis
The first 3 stages of renal amyloidosis are characterized mainly by changes in urine analysis.Kidney damage is very common in amyloidosis.
Stages of renal amyloidosis:
- Latent. External symptoms at this time no. Protein is not consistently detected in the urine, the protein composition in the blood changes, and the ESR increases.
- Proteinuric. It also does not appear externally. Protein is constantly present in the urine, but kidney function is not affected.
- Nephrotic. In urine in high concentration protein is present. As a result, there is a decrease in protein content in the blood and a change in its composition. At this stage, swelling may appear.
- 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). In this case, there arises chronic poisoning these substances (azotemic intoxication). The main symptoms caused by azotemia: loss of appetite, vomiting, diarrhea, exhaustion, drowsiness, itchy skin. Anemia develops, which is manifested by pallor, dizziness, and loss of performance. Impaired filtration in the kidneys and uremia cause severe edema. In amyloidosis, they are dense, the skin over them is pale, their appearance does not depend on the patient’s position or time of day. Blood may appear in the urine (hematuria). When there is a persistent increase blood pressure, difficult to treat. With an increase in the content of nitrogenous waste in the blood, the patient's condition quickly deteriorates. Without treatment, severe kidney failure is fatal.
Other symptoms of amyloidosis
As a result of amyloid deposition in the liver, it becomes enlarged. This is manifested by constant heaviness and 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 enlargement of 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 bile stagnation occurs inside the hepatic ducts, which is manifested by itching, yellowing of the sclera, and in severe cases, the skin.
An enlarged spleen often does not manifest itself in any way, but the risk of rupture of this organ increases with minor abdominal trauma.
Amyloid deposition. Sometimes the tongue is not enlarged, but loses flexibility and becomes very dense.
Damage to the esophagus, stomach, and 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 amyloid deposits cause symptoms intestinal obstruction– abdominal pain, bloating, lack of stool.
When amyloid is deposited in the intestinal wall, its absorption function is impaired. Malabsorption syndrome occurs, i.e. poor absorption. It is accompanied by constant diarrhea and sudden weight loss.
Amyloid may be deposited in articular cartilage, and arthritis occurs. The wrist, shoulder, and knee joints are affected, often symmetrically. The joints are swollen and a little painful.
When amyloid is deposited in the muscles, they become denser and increase in volume. Developing muscle weakness. Carpal tunnel syndrome may be detected - numbness and pain in the first three fingers of the hand, spreading to the forearm.
Due to the formation of cysts in the bones, fractures are possible.
When the respiratory system is affected, hoarseness of the voice appears, and sometimes (cough, shortness of breath).
Sometimes there is heart damage. It is manifested by an increase in this organ and rhythm disturbances. Heart failure gradually develops - shortness of breath occurs during exertion, and then at rest. Later swelling occurs. 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 damage is manifested by the formation of plaques slightly raised above its surface - papules. They do not itch, have a waxy appearance, and are located mainly in the axillary, anal, groin areas, as well as on the face and neck. Gently rubbing these papules with a finger can cause subcutaneous hemorrhage. Sometimes hemorrhagic syndrome (increased bleeding) occurs with hemorrhages around the eyes (“raccoon eyes”, “spectacles symptom”).
Amyloidosis also affects the nervous system. There are signs of damage to peripheral nerves. Sensitivity may be impaired and pain may appear in different parts of the body. In case of defeat motor nerves movement disorders and paralysis occur. 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). Intestinal movement disorder and diarrhea also occur. Characteristic dysfunctions pelvic organs, including erectile dysfunction.
Treatment of amyloidosis
The main direction of treatment of amyloidosis is therapy of the underlying disease. With remission of rheumatic disease, improvement and sometimes even reversal of amyloidosis is observed.
Prescribing large doses of vitamin C and eating raw liver are ineffective, although such methods have been used in the past.
What can you do?
The amount of salt in the diet of a person suffering from renal amyloidosis should be sharply limited. - In case of renal amyloidosis, it is necessary to limit daily use table salt up to 1–2 g per day.
- Wearing elastic (compression) stockings helps with swelling.
- In case of renal amyloidosis, it is necessary to control the volume of fluid consumed 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 worried about diarrhea, you need to reduce the consumption of solid fats (margarine, butter, lard, lamb, cooking fat, etc.) to 40 g per day. These fats need to be replaced vegetable oils containing polyunsaturated fatty acids.
What can a doctor do?
Drug 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 and glucocorticosteroid drugs, melphalan, colchicine, etc. are used. Treatment is often of a course nature.
Autologous stem cell therapy (the body's own undifferentiated cells) may be used.
For renal amyloidosis, administration of fresh frozen plasma and protein preparations is used to maintain protein levels in the blood. Patients in the azotemic stage of kidney damage undergo hemodialysis sessions. Kidney transplantation is indicated; however, as the underlying disease progresses, the transplanted kidney will undergo amyloidosis.
In the treatment of heart failure due to amyloidosis, loop diuretics (Furosemide) and low doses of ACE inhibitors are used. If heart rhythm disturbances develop (atrioventricular block, 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 should I contact?
Amyloidosis is a systemic process that occurs mainly against the background of rheumatic diseases, so its treatment and diagnosis is most often carried out by a rheumatologist. 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, a consultation with a cardiologist is necessary; in the lungs, a pulmonologist; if there are changes in the voice, you need to consult an ENT doctor. Skin lesions require examination by a dermatologist; for amyloidosis of peripheral nerves, a neurologist will help.
Kidney damage may be indicated by:
- Proteinuria ( the appearance of protein in the urine). It is the first and most significant manifestation of kidney damage in amyloidosis. Normally, the protein concentration in the urine does not exceed 0.033 g/l, but if the integrity of the kidney filter is damaged, blood cells and large molecular proteins begin to be excreted in the urine. Proteinuria more than 3 g/l indicates severe nephrotic syndrome and severe damage renal tissue.
- Hematuria ( the appearance of red blood cells in the urine). Normally, during microscopic examination of urine, no more than 1–3 red blood cells are allowed per field of view. Blood in the urine may indicate the development of nephrotic syndrome or be a sign of inflammatory damage to the kidney 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-inflammatory disease of the kidneys or other organs genitourinary system.
- Cylindruria ( the presence of casts in the urine). Cylinders are casts that are formed 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 red and white blood cells.
- Decreased urine density. Normal urine density ranges from 1.010 to 1.022, however, with the destruction of the renal nephrons, the organ’s concentrating ability is markedly reduced, as a result of which the urine density will decrease.
Biochemical blood test
This study allows not only to assess the functional state of internal organs, but also to suspect the cause of amyloidosis.Diagnostic value for amyloidosis is:
- proteins of the general phase of inflammation;
- cholesterol level;
- 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 and prevent damage to healthy tissue.
Squirrels acute phase inflammation
| Protein | Normal values |
| Whey 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 | No 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 often occurs with hereditary forms amyloidosis, which must be taken into account when assessing this indicator.
Liver tests
IN this group includes a number of indicators that allow you to assess the functional state of the liver.
Liver tests for liver amyloidosis
| Indicator | What does it mean | Norm | Changes in liver amyloidosis |
| Alanine aminotransferase(AlAT) | These substances are contained in liver cells and enter the bloodstream in large quantities only with massive destruction of the organ tissue. | M: up to 41 U/l. | Concentrations increase with the development of liver failure. |
| AND:
up to 31 U/l. |
|||
| Aspartate aminotransferase(ASAT) | |||
| Total bilirubin | When red blood cells break down in the spleen, unbound bilirubin is formed. It enters the liver with the bloodstream, where it binds with glucuronic acid and in this form is excreted from the body as part of bile. | 8.5 – 20.5 µmol/l. | Concentrations increase with massive amyloid deposition in the liver. |
| Bilirubin (unrelated faction) | 4.5 – 17.1 µmol/l. | Concentration increases with liver failure and disruption of the bile-forming function of the organ. | |
| Bilirubin (associated faction) | 0.86 – 5.1 µmol/l. | The concentration increases when intrahepatic or extrahepatic bile ducts are compressed. |
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 cells in the body. 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.
Blood protein level
The normal level 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 ( as a result of protein loss in urine), as well as in severe liver failure, since all the body’s 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 ( norm – 44 – 80 µmol/l in women and 74 – 110 µmol/l in men) is formed in muscle tissue, after which it enters the blood 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 renal dysfunction in amyloidosis.
Ultrasound examination of internal organs
This study allows us to assess the structure and structure of internal organs, which is necessary to assess the degree of dysfunction and determine the extent of the pathological process.Ultrasound for amyloidosis can reveal:
- Compaction and enlargement ( or decrease in the azotemic stage) kidney.
- Presence of renal cysts ( what could cause secondary amyloidosis).
- Enlargement and hardening of the liver and spleen, as well as disruption of blood flow in these organs.
- Hypertrophy various departments heart muscle.
- Amyloid deposits in the walls of large vessels ( for example, the aorta, the largest artery in the body).
- Accumulation of fluid in body cavities ( ascites, hydrothorax, hydropericardium).
Genetic research
Genetic testing is prescribed if hereditary amyloidosis is suspected ( that is, if it is not possible to confirm the secondary nature of the disease). Typically, polymerase chain reaction is used for this, the principle of which is to take genetic material from a sick person ( This is usually blood, urine, saliva or any other biological 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, genetic testing is recommended for all family members and close relatives of the patient to exclude the presence of this disease.
Biopsy
A biopsy is the intravital removal of a small piece of tissue or organ and its examination in the laboratory using special techniques. This study is the “gold standard” in the diagnosis of amyloidosis and can confirm the diagnosis in more than 90% of cases.In case of amyloidosis, samples can be taken for research. muscle tissue, tissue of the liver, spleen, kidney, intestinal mucosa or other organ ( depending on the clinical picture of the disease). The material is collected in a sterile operating room, usually under local anesthesia. Using a special needle with sharp edges, the skin is punctured and a small amount of organ tissue is collected.
In the laboratory, part of the obtained material is treated with Lugol's solution ( iodine in an aqueous solution of potassium iodide), and then with a 10% sulfuric acid solution. If there is a large amount of amyloid, it will turn blue-violet or greenish color, which will be visible to the naked eye.
For microscopic examination the material is painted with special dyes ( for example, Congo red, after which the amyloid acquires a specific red color), and examined under a microscope, and amyloid fibrils are clearly defined as randomly arranged rod-shaped formations.
Treatment of amyloidosis
It is quite difficult to identify amyloidosis and begin treatment in the early stages of its development, since the disease clinically manifests itself decades after its onset. At the same time, in cases of severe renal failure therapeutic measures are ineffective and are of a supportive nature. Is hospitalization necessary to treat amyloidosis?
If amyloidosis is suspected, hospitalization in the nephrology or therapy department is recommended in order to conduct a thorough examination of the genitourinary system, since kidney damage is the most common 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 the diagnostic process does not reveal serious functional disorders of any organs, further treatment can be performed on an outpatient basis ( at home) provided that the patient strictly follows all the doctor’s instructions and comes for 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;
- renal failure;
- liver failure;
- heart failure;
- adrenal insufficiency;
- severe anemia ( hemoglobin concentration less than 90 g/l);
- hypersplenism;
- internal bleeding.
In the treatment of amyloidosis the following is used:
- drug treatment;
- diet therapy;
- peritoneal dialysis;
- organ transplantation.
Drug treatment
Drug treatment is aimed at slowing down the process of amyloid formation ( if possible). Good effectiveness 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 secondary amyloidosis is susceptible.Drug treatment of amyloidosis
| Group of drugs | Representatives | Mechanism therapeutic effect | Directions for use and doses |
| Steroidal anti-inflammatory drugs | Prednisolone | They inhibit immune reactions and have a pronounced anti-inflammatory effect. They reduce the rate of formation of lymphocytes and also inhibit the migration of leukocytes to the site of inflammation, which is responsible for the positive effect in amyloidosis. | The dosage, duration of use and route of administration are selected individually in each case, depending on the severity of the underlying and concomitant diseases. |
| Dexamethasone | |||
| Antitumor drugs | Melphalan | Disturbs 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 process of amyloid formation ( especially in the primary form of the disease). | Orally, 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. | Orally, 500–750 mg daily or every other day. The duration of treatment is determined by the effectiveness and tolerability of the drug. |
| Antigout drugs | Colchicine | Inhibits the rate of formation of leukocytes and the process of synthesis of amyloid fibrils in amyloidoblasts. Effective for familial Mediterranean fever and to a lesser extent for secondary amyloidosis. | Orally 1 mg 2-3 times a day. Long-term treatment ( more than 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 effects 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 liquid ( 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 during nephrotic syndrome and at the same time reduce their consumption from food, since in case of renal failure the process of excretion of by-products of their metabolism is disrupted.
Diet for amyloidosis
| What is recommended to eat? | What is not recommended to eat? |
|
|
Peritoneal dialysis
The principle of this method is similar to the principle of hemodialysis ( which is described earlier), however there are certain differences. In peritoneal dialysis, the semi-permeable membrane through which metabolic by-products are removed 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 injected 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 that blood purification is slower than with hemodialysis.The main advantages of this method over hemodialysis are:
- Removal of B2-microglobulin, which can cause the development of amyloidosis.
- Constant ( continuous) cleansing the blood of metabolic by-products.
- Possibility of use in outpatient settings ( at home).
The catheter is installed 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 dialysate solution is injected into the abdominal cavity through a catheter, after which the catheter is tightly closed and the liquid 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 specified period of time ( usually every 6 – 8 hours) it is necessary to drain the “old” solution from the abdominal cavity and replace it with a new one. The entire 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;
- for infectious skin diseases in the abdominal area;
- for mental illness.
Organ transplant
Donor organ transplantation is the only means of saving the lives of patients with developed organ failure. However, it is worth remembering that this method treatment is only symptomatic and does not eliminate the cause of amyloidosis, therefore, in the absence of constant adequate treatment, a relapse of the disease is possible.In case of 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 ( drugs that inhibit activity immune system ), to prevent the rejection of “foreign” tissue by one’s own body.
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 cause the patient's death. The most dangerous complications of amyloidosis are:
- Myocardial infarction. When systemic blood pressure increases ( 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 heart tissue, which further impairs its blood supply. As a result, during sudden physical exertion or emotional stress, a discrepancy may develop between the need of the heart muscle for oxygen and the level of its delivery, which can lead to the death of cardiomyocytes ( heart muscle cells). If a person does not die immediately ( which is observed quite often), a scar forms in the area of the heart attack, which further “weakens” the heart ( because scar tissue is unable to contract) and can lead to chronic heart failure.
- Stroke. A stroke is an acute disruption of the blood supply to 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 nerve cells being soaked in 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.
- Hepatic vein thrombosis. This complication can develop as a result of an increase in fibrinogen concentration ( blood coagulation protein) in the renal vein system, which leads to the formation of blood clots that clog the lumens of blood 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 released through the kidneys ( major blood plasma proteins), while fibrinogen remains in the blood and its relative concentration increases.
- Infectious diseases. Depletion of protective systems, loss of large amounts of proteins in the urine and the development of multiple organ failure make the patient’s body practically defenseless against various pathogenic microorganisms. Pneumonia is often reported with amyloidosis ( pneumonia), pyelonephritis and glomerulonephritis, skin infections ( erysipelas ) and soft tissues, foodborne diseases, viral infections ( for example, mumps) and so on.
Is pregnancy possible with amyloidosis?
Pregnancy with amyloidosis is possible only in cases where functional activity vital important organs a woman is enough to bear and give birth to a child. Otherwise, the pregnancy may result in the death of both the fetus and the mother. Some local forms of amyloidosis do not pose any danger to pregnancy. If amyloid accumulation 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 functions;
- liver functions;
- adrenal functions;
- rate of amyloid formation.
A dangerous complication of amyloidosis is heart failure ( CH), developing due to the deposition of amyloid in the heart tissue. This leads to disruption contractile activity, as a result of which certain symptoms appear during exercise - weakness, shortness of breath ( feeling of lack of air), rapid heartbeat, chest pain. Since bearing 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, there are 4 functional classes of HF. The first is characterized by the appearance of symptoms only during extremely heavy physical exertion, while the fourth is diagnosed to patients who cannot care for themselves. Women with functional class I - II can safely carry a child, but artificial delivery is recommended for them ( by caesarean section). In the presence of functional class III - IV, 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 requires a constant supply of various nutrients, including proteins. However, when amyloid is deposited in the mother's kidneys, the kidney tissue is destroyed, 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 proteins ( being the main building material for a growing organism), as a result of which developmental delays may occur, and after birth, developmental defects, growth retardation, and mental and psychological disabilities may occur.
The extreme level of kidney damage associated with amyloidosis is chronic renal failure, in which the kidneys are unable to remove metabolic byproducts from the body. As a result of this, 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 light delay development until intrauterine death).
Liver functions
When amyloid is deposited in the liver tissue, the blood vessels of the organ are compressed, resulting in increased pressure in the so-called liver system. portal vein, which collects blood from all unpaired organs of the abdominal cavity ( from the stomach, intestines, spleen and others). 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 may result in developmental delays, various congenital anomalies, and with severe tense ascites ( if the amount of liquid exceeds 5 - 6 liters) intrauterine fetal death may occur.
Functions of the adrenal glands
IN normal conditions adrenal glands secrete certain hormones involved in regulation metabolic processes in the body. When affected by amyloidosis, the amount functional fabric in these organs decreases, resulting in a noticeable 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 weakly expressed 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
Typically, 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, developing against the background of chronic purulent inflammatory processes in the body) amyloid is formed very quickly. This may result in amyloid infiltration of placental vessels ( organ that ensures metabolism between mother and fetus), which will lead to oxygen starvation fetus, delayed development or even intrauterine death.
Does amyloidosis occur in children?
Children suffer from amyloidosis somewhat less frequently, which is obviously due to the time required for the development of the pathological process ( this usually takes several years). However, with some forms of hereditary amyloidosis, as well as with secondary amyloidosis, damage to internal organs is possible in early childhood. Amyloidosis in children can be caused by:
- 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 defective genes from both parents. If a child receives a defective gene from one parent, and a normal one from the other, 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 manifests itself as generalized amyloidosis, which develops in the first 10 years of life. Kidney tissue is predominantly affected. In addition to amyloidosis, attacks of fever are observed ( increased body temperature, chills, increased sweating) And mental disorders.
- English amyloidosis. It is characterized by predominantly kidney damage, as well as attacks 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 crawling sensation, impaired sensitivity and movement disorders. The prognosis for life is favorable, but paralysis often develops ( inability to perform voluntary movements).
- American amyloidosis. Characterized by predominant damage to the nerves of the upper extremities. Clinical manifestations are the same as for Portuguese amyloidosis.
- Secondary amyloidosis. This form the 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 - 10 ( and sometimes less) years, the first signs of generalized amyloidosis will begin to appear. The prognosis in this case is extremely unfavorable - multiple organ failure develops quite quickly and death occurs. The treatment given gives positive results only in half of the cases and short period time, after which the disease usually recurs ( worsens again).
Is there effective prevention of amyloidosis?
The 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 relapse of the disease) is ineffective and does not give the desired results. Prevention of amyloidosis
| Form of amyloidosis | Brief description | Preventive measures |
| 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 ( There are only 23 pairs of them in the human genetic apparatus). These genes are passed on from generation to generation, as a result of which all the offspring of a sick person with a certain degree of probability may develop amyloidosis. Defective genes trigger the formation of mutant cells ( amyloidoblasts), synthesizing fibrillar proteins, which are subsequently converted into amyloid and deposited in the tissues of the body. |
|
| 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 of timely and full treatment chronic inflammatory and purulent processes in the body. This is done by using antibacterial drugs 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 complete recovery. |
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 unfavorable - more than half of patients die within the first year after diagnosis. However, it is more often 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. If renal failure develops, the patient dies within a few months. Hemodialysis ( blood purification using a special device) prolongs the patient’s life by 5 years or more. Kidney transplantation can be an effective treatment, but amyloid deposition in donor organ observed in more than half of the cases.
- Liver function. With pronounced portal hypertension (increased pressure in the portal vein system) 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 such patients without radical treatment (liver transplants) does not exceed 1 – 2 years.
- Heart function. With the development of stage VI heart failure, most patients die within 6 months. Heart transplant can prolong the life of patients ( provided that other organs and systems are functioning normally).
- Bowel function. In intestinal amyloidosis, malabsorption can reach extreme expressiveness. In the absence specific treatment (complete intravenous nutrition) the patient's death 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. Manifested by damage to all organs and tissues, rapid development multiple organ failure and death of the patient. A year after diagnosis, only 51 out of a hundred people are still 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 unfavorable. Death usually occurs due to kidney failure within a few years of diagnosis.
- Secondary amyloidosis. Forecast determined functional state internal organs. The main cause of death in this form of the disease is also chronic renal failure.
Is it possible to cure amyloidosis with folk remedies?
There are traditional methods, which have been used for many years in the treatment of this disease. However, it is worth noting that self-medication with this serious illness As amyloidosis can lead to the most undesirable consequences, therefore, before starting to use traditional recipes, it is strongly recommended to consult a doctor. For amyloidosis you can use:
- Herbal anti-inflammatory infusion. Contains fresh wild chamomile flowers ( have anti-inflammatory and antimicrobial effect ), immortelle flowers ( have an anti-inflammatory effect and also improve the secretion of bilirubin with bile), St. John's wort herb ( 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 this, close the lid tightly and leave in a dark place for 5 - 6 hours. Take 200 ml 1 time per day before bedtime. The duration of continuous treatment is no more than 3 months.
- Infusion of rowan and blueberry fruits. 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 of dead nettle. This plant contains tannins, ascorbic acid, histamine and many other substances. Used for chronic infectious kidney diseases. To prepare the infusion, 3–4 tablespoons of crushed nettle herb should be poured into a thermos with 500 milliliters hot water (not boiling water) and take 100 milliliters 4 - 5 times a day.
- Infusion of juniper fruits. 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 leave in a dark place for 2 – 4 hours. Take 1 tablespoon 3-4 times a day before meals.
- Oat grass tincture. It has anti-inflammatory and general tonic effects. Increases the body's performance and resistance to stress. To prepare the tincture, you need to pour 200 mg of crushed oat grass with 70% alcohol and leave in a dark place for 3 weeks, shaking the jar daily. After this, strain and take 1 teaspoon 3 times a day, diluting in 100 ml of warm boiled water.
Amyloidosis is a disease based on protein metabolism disorders. With this illness 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 statistics, amyloidosis most often affects middle-aged and elderly men. Renal amyloidosis is detected in approximately 1-2 patients per 100,000 inhabitants.
What is it?
Amyloidosis is a systemic disease characterized by the extracellular deposition of various insoluble proteins. These proteins can accumulate locally, causing the corresponding symptoms, or have widespread, including many organs and tissues, causing significant systemic disorders and damage.
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 location of amyloid deposits, the degree of their prevalence in 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 as a result of hemodialysis, when a certain immunoglobulin is not filtered, but accumulates in the 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. Mostly occurs due to inflammatory lesions of organs, chronic destructive diseases,. Secondary amyloidosis of the kidneys can be a consequence of chronic intestinal diseases (nonspecific ulcerative colitis), as well as as a result of tumor growth. Type AA amyloid is formed from the alpha globulin protein, synthesized by the liver in the event of a long-term inflammatory process. A genetic breakdown in the structure of the alpha globulin protein leads to the production of insoluble amyloid instead of the usual soluble protein.
- Hereditary AF amyloidosis (Mediterranean fever) has an autosomal recessive transmission mechanism 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 varied: symptoms are determined by the duration of the disease, the localization of amyloid deposits and their intensity, the degree of organ dysfunction, and the peculiarities of the biochemical structure of amyloid.
In the initial (latent) stage of amyloidosis, there are no symptoms. The presence of amyloid deposits can only be detected by microscopy. Subsequently, as deposits of the pathological glycoprotein increase, functional failure of the affected organ occurs and progresses, which determines the characteristics of the clinical picture of the disease.
For renal amyloidosis long time moderate proteinuria is noted. Then nephrotic syndrome develops. The main symptoms of renal amyloidosis are:
- the presence of protein in the urine;
- arterial;
- swelling;
- chronic renal failure.
With amyloidosis of the gastrointestinal tract, attention is drawn to an enlargement of the tongue (macroglossia), which is associated with the deposition of amyloid in the thickness of its tissue. Other manifestations:
- nausea;
- heartburn;
- constipation followed by diarrhea;
- impaired absorption of nutrients from the small intestine (malabsorption syndrome);
- gastrointestinal bleeding.
Cardiac amyloidosis is characterized by a triad of symptoms:
- heart rhythm disturbance;
- cardiomegaly;
- progressive chronic heart failure.
In later stages of the disease, even minor physical activity lead to severe weakness and shortness of breath. Polyserositis may develop against the background of heart failure:
- effusion pericarditis;
- effusion pleurisy;
Amyloid lesions of the pancreas usually occur under the mask chronic pancreatitis. Amyloid deposition in the liver causes portal hypertension, cholestasis and hepatomegaly.
With amyloidosis of the skin, waxy nodules appear in the neck, face and natural folds. Often, skin amyloidosis in its course resembles lichen planus, neurodermatitis or scleroderma.
Amyloidosis of the nervous system is severe and is characterized by:
- persistent headaches;
- dizziness;
- orthostatic collapse;
- paralysis or paresis of the lower extremities;
- polyneuropathy.
With amyloidosis of the musculoskeletal system, the patient develops:
- myopathies;
- carpal tunnel syndrome;
- polyarthritis affecting symmetrical joints.
Kidney amyloidosis
The development of this disease can occur against the background of existing chronic diseases in the body. But it can also develop independently. It is this type of pathology that clinicians consider the most dangerous. In almost all clinical cases patients require hemodialysis or organ transplantation. 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, renal amyloidosis occurs if the patient suffers from pulmonary tuberculosis.
Kidney amyloidosis
Liver amyloidosis
This disease almost never occurs on its own. Most often, it develops together with the same amyloid lesions of other organs: spleen, kidneys, adrenal glands or intestines.
Most likely, its cause is immunological disorders or severe purulent infectious and inflammatory diseases. The most striking sign of the manifestation of this disease will be enlargement of the liver and spleen. Very rarely it is accompanied by any pain symptoms or jaundice. This disease is characterized by an erased clinical picture and slow progression. On late stages The disease may 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 type of infection.
The skin also undergoes characteristic changes with liver amyloidosis - it becomes pale and dry. Manifestations of portal hypertension and subsequent symptoms are possible: 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 identify and will require a series of tests. The secondary form of the disease is easier to detect than the primary form, since it has a disease that precedes its occurrence.
The standard test for this disease is amyloid urine tests using methylene blue and Congorot. These chemicals normally change the color of urine, but in patients with amyloidosis they do not.
- For 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.
- For renal amyloidosis, the Kakovsky-Adissa method is used, which makes it possible to detect protein and red blood cells in the urinary sediment in the early stages of the disease; with the development of nephropathy, protein is detected in the urine - albumin, casts and many leukocytes.
- According to an ECG study, cardiac amyloidosis can be detected; it is characterized by low wave voltage, with ultrasound examination The echogenicity of the heart changes, thickening of the atria is visualized. Data from these instrumental studies allow diagnosing amyloidosis in 50-90% of cases.
Primary amyloidosis is extremely difficult to diagnose, since its manifestations are rarely detected in laboratory tests, and most often no specific changes are observed in the urine and blood. If the process is severe, the ESR and platelet count may increase significantly and the hemoglobin content may decrease.
Treatment of amyloidosis
The lack of complete knowledge about the etiology and pathogenesis of amyloidosis causes difficulties associated with its treatment. In case of secondary amyloidosis, active treatment of the underlying disease is important.
Dietary recommendations suggest limiting the intake of table salt and protein, and 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, unithiol, 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 death 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.
