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Amyloidosis, also called amyloidosis, is a disease in which an insoluble, fibrinous protein called amyloid builds up in the tissues and organs of the body.
Amyloidosis occurs in the primary form, i.e. without a specific cause, and in the secondary form, which usually occurs against the background of chronic rheumatic diseases or diseases of the connective tissue (collagen diseases).
The cause of primary amyloidosis is not well understood. It is only known that the source of the disease is the bone marrow, which produces, among others, antibodies (proteins) that protect the body, for example against infections. In a healthy person, these antibodies are broken down and broken down after their work is done. In the case of amyloidosis, this division does not go smoothly. Antibodies build up in the blood and then build up in various organs. Amyloid deposits are most often found in the kidneys, heart, liver and peripheral nervous system. The consequence of this is first the disturbance of the organ, which has become the amyloid store, and then a significant impairment of its function.
Secondary amyloidosis is a complication of various infectious or inflammatory diseases, such as rheumatoid arthritis, tuberculosis and bone diseases. Diseases that increase the risk of amyloidosis are, for example, rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis or Crohn’s disease.
Specialists also distinguish hereditary amyloidosis, but it is very rare. It occurs as a result of mutations of genes encoding various proteins.
Amyloidosis may be local in nature. This means that proteins accumulate in only one organ. If they are deposited in several organs, it is referred to as a generalized form of the disease, which is then considered a systemic disease.
No statistics on amyloidosis
It is not known how many patients in Poland suffer from amyloidosis, as there are no data assessing the incidence of this ailment. Data collected by scientists in the United States show that the incidence of the disease is 5,1-12,8 cases per million people per year. In 90 percent. cases, the disease occurs in people over 50 years of age. On the other hand, it is known from British data that the disease occurs twice as often in women than in men.
Symptoms of amyloidosis
In patients with amyloidosis, a monoclonal protein is present in the blood serum and / or urine. Other symptoms depend on in which organ the protein is deposited. The most common clinical symptoms include: nephrotic syndrome (with or without renal failure), congestive heart failure, sensorimotor and / or autonomic neuropathy, and hepatomegaly (the term for an enlarged liver). Fatigue and unreasonable weight loss dominate the general symptoms.
Kidney involvement as the dominant symptom occurs in 1/3 of patients with amyloidosis in the form of proteinuria or full-blown nephrotic syndrome and renal failure.
Cardiac amyloidosis is the dominant symptom in 20% of patients. sick at diagnosis. The characteristic symptoms include abnormal electrocardiographic recordings and symptoms of congestive heart failure and low-output syndrome. Cardiomyopathy in the course of amyloidosis is restrictive, which means that the size of the heart shape in radiographic examination may be normal. Echocardiography shows a thickening and the characteristic granular glow of the heart walls, characteristic of amyloidosis, due to amyloid infiltration.
Sudden cardiac death in patients with amyloidosis occurs much more frequently in the course of electrical-mechanical dissociation than due to ventricular tachyarrhythmias.
Peripheral polyneuropathy following amyloidosis is most often manifested by muscle weakness, numbness and paraesthesia (tingling, numbness or a change in skin temperature). Sensory polyneuropathy is observed more often than motor neuropathy, it is symmetrical and usually affects the lower limbs. Autonomic neuropathy often accompanies peripheral polyneuropathy, causing orthostatic hypotension (lowering blood pressure after repositioning), impotence, and gastrointestinal and bladder motility disorders.
The gastrointestinal tract involvement may be local or diffuse. The most common symptoms include enlargement of the tongue and liver, disturbances in intestinal peristalsis, and malabsorption syndrome.
Disturbances in homeostasis and a tendency to excessive bleeding are another clinical problem in amyloidosis. These complications are caused not only by the fragility of the blood vessels due to the deposition of amyloid in the vessel walls, but also by the abnormal structure of the clot. Factor X deficiency resulting from its binding by amyloid in the liver and spleen and decreased synthesis of coagulation factors by the liver are responsible for the blood coagulation disorders.
Diagnosis and treatment of amyloidosis
The diagnosis of amyloidosis can be confirmed after a biopsy is performed and the type of amyloid is determined. The tests are also to exclude the existence of multiple myeloma and to select the appropriate therapy for the patient.
The goal of treatment is remission or inhibition of progression and treatment supporting the function of the organs affected by amyloidosis. Treatment that could inhibit amyloid deposition and remove accumulated amyloid is experimental. Current treatment regimens are similar to those used in the treatment of multiple myeloma. The administered chemotherapy can be low, medium or high dose.
Supportive treatment is aimed at combating the symptoms accompanying the dysfunction of individual organs affected by amyloid deposits.
In general, however, amyloidosis does not give the patient a chance of a complete recovery. Late diagnosis of the disease reduces the chances of applying modern therapies and prolonging life.
Text: Anna Jarosz
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