Amyloidosis is a systemic disease characterized by the deposition of amyloid (a complex protein-polysaccharide complex) in tissues.
Amyloidosis leads to atrophy, sclerosis and failure of various organs.
The frequency of occurrence is at least 1:50 000 (mainly occurs after 60 years).
1. Primary amyloidosis is caused by cell changes in myeloma , monoclonal hypergammaglobulinemia, Waldenstrom macroglobulinemia.
Amyloid consists of light chains of immunoglobulins, their synthesis is dramatically increased in these diseases.
2. Secondary amyloidosis occurs due to chronic inflammatory diseases (for example, with rheumatoid arthritis, osteomyelitis, bronchiectasis, malaria, tuberculosis, leprosy ).
Amyloid consists of the amyloid fibrillar protein and its degradation products – serum amyloid protein.
3. Familial (idiopathic) amyloidosis. Usually – a congenital defect of enzymes. There are several forms of congenital amyloidosis, for example, with Mediterranean fever (family paroxysmal polyserosis is a disease of unclear cause, manifested by abdominal pain, febrile episodes, pleurisy, arthritis and skin rashes).
4. Senile amyloidosis.
5. Dialysis amyloidosis develops during hemodialysis.
The reasons for the predominant damage of certain organs (kidneys, intestines, skin) are unknown.
The symptoms and course of the disease are diverse and depend on the localization of amyloid deposits, the degree of their prevalence in the organs, the duration of the disease, the presence of complications.
More often observed is a complex of symptoms associated with lesions of several organs.
- Increase the size of the tongue
- Swallowing disorder
- Diarrhea or constipation
- Tumor deposits of amyloid in the stomach or intestines (not often)
Amyloidosis of the esophagus is usually accompanied by damage to other parts of the digestive system. Difficulty in swallowing when swallowing solid and dry food, belching.
Amyloidosis of the stomach is usually combined with amyloidosis of the intestine and other organs. Manifestations: feeling of heaviness in the pit of stomach after eating, heartburn, belching, nausea.
Amyloidosis of the intestines occurs frequently, manifested by a feeling of discomfort, heaviness, less often moderate abdominal pain, impaired stool (constipation or persistent diarrhea). Isolated tumor-like amyloidosis of the intestine occurs under the mask of the tumor (pain, intestinal obstruction ), and is usually detected during surgery.
Amyloidosis of the liver is observed relatively often, characterized by an increase and thickening of the liver, often the syndrome appears portal hypertension , less pain in the right hypochondrium, nausea, belching, jaundice , hemorrhage.
Amyloidosis of the pancreas usually occurs under the mask chronic pancreatitis; characterized by dull pain in the left hypochondrium, belching, nausea, vomiting.
- Resistant to stagnant treatment heart failure
- Disorders of rhythm and conduction
- Focal lesions of the myocardium (pseudo-infarction).
* nervous system
- Peripheral polyneuropathy (burning sensation, tingling, goosebumps in the limbs, impaired sensitivity)
- Disorders of the autonomic nervous system (headaches, dizziness, sweating)
- Orthostatic hypotension
- Sphincter disorders (urinary and fecal incontinence).
* tendons, cartilage
- Carpal tunnel syndrome (numbness, tingling and throbbing pain in fingers)
- Symmetric polyarthritis, humeroscapular periarthritis, dense periarticular edema.
- Enlarged spleen.
* respiratory organs
- Tumor pulmonary amyloidosis.
Skin lesions – papules, plaques, nodes, hemorrhages around the eyes (“glasses symptom”).
- The involvement of the thyroid gland with a decrease in its function.
- The involvement of the adrenal glands with their failure.
- Amyloidosis is renal, typical of all forms of amyloidosis.
- In the blood, anemia, leukocytosis, increased ESR, in almost 80% of cases at the beginning of the disease there is a decrease in the amount of proteins, hyperglobulinemia, decrease in the level of platelets , sodium, calcium.
- With liver damage – increased levels cholesterol , in some cases – bilirubin , increased alkaline phosphatase activity
- Evaluation of thyroid function – possible reduction of thyroid function
- Assessment of kidney function – in almost 50% of cases, amyloidosis begins with renal failure. In the study of urine, in addition to protein , in the sediment detect cylinders, red blood cells, white blood cells
- In primary amyloidosis, an increase in amyloid content is found in the blood plasma and / or urine.
- When secondary amyloidosis should pay attention to laboratory signs of chronic inflammatory diseases.
- In the feces – a large amount of fat, starch, muscle fibers.
- Echocardiography (for suspected heart disease)
- X-ray examination
- Functional clinical tests with Congo red and methylene blue (the rapid disappearance of dyes when administered intravenously from blood serum due to their
- amyloid fixation and a significant reduction in their excretion by the kidneys). In primary amyloidosis, these samples are not always informative.
- Organ biopsy is the most informative method.
General principles of therapy
The home mode, with the exception of severe conditions (severe heart failure, chronic renal failure )
With primary amyloidosis in the initial stages of the process – chloroquine 0.25 g 1 p. / Day. long-term combination of melphalan and prednisolone, melphalan, prednisolone and colchicine or colchicine only
In secondary amyloidosis, treatment of the underlying disease (tuberculosis, osteomyelitis , empyema, etc.), after cure of which amyloidosis often disappears
Transfer of a patient with dialysis amyloidosis to peritoneal dialysis
When intestinal amyloidosis occurs with persistent diarrhea – astringents (bismuth subnitrate, adsorbents)
In secondary amyloidosis, specific treatment of the underlying disease.
With familial amyloidosis, colchicine (0.6 mg 2-3 times a day.)
Symptomatic therapy: vitamins, diuretics, drugs that reduce pressure, plasma transfusions, etc.
Patients with amyloidosis show a prolonged (1.5–2 years) intake of raw liver (100–120 g / day).
Restriction of protein and salt intake in patients with chronic renal failure
Salt restriction for heart failure patients
Surgical treatment of amyloidosis
Removal of the spleen can improve the condition due to a decrease in the amount of amyloid produced in the body.
The prognosis for amyloidosis is determined by the underlying disease. The average survival rate is 12-14 months. Women often live longer. The disease is more severe in the elderly.