What forms are there?
The type of amyloidosis is determined by which protein is deposited, and treatment depends entirely on this. AL amyloidosis is associated with abnormal immunoglobulin light chains produced by a clone of plasma cells in the bone marrow; it often accompanies myeloma. AA amyloidosis develops against the background of many years of inflammation in rheumatoid arthritis, tuberculosis, chronic suppuration, and periodic illness. Transthyretin amyloidosis can be hereditary or age-related and primarily affects the heart and nerves. A separate form is identified that is associated with long-term dialysis.
- AL amyloidosis - immunoglobulin light chains
- AA amyloidosis is a consequence of chronic inflammation
- Transthyretin: hereditary and age-related
- Amyloidosis with long-term dialysis
- Local forms affecting one organ
How it manifests itself
Symptoms depend on which organ is most affected. The renal form is manifested by increasing edema, foamy urine and large loss of protein, eventually leading to renal failure. The cardiac form causes shortness of breath, swelling, arrhythmias and fainting; the heart becomes hard and does not relax well. Nerve damage causes numbness, burning and weakness in the feet, dizziness when standing, constipation and diarrhea. There are also clues that are noticeable upon examination: an enlarged tongue, bruises around the eyes, thickening of the skin, carpal tunnel syndrome on both sides.
- Swelling, foamy urine, loss of protein
- Shortness of breath, arrhythmias, fainting
- Numbness and burning in the feet
- Dizziness when standing up
- Enlarged tongue, bruises around the eyes
- Diarrhea, constipation, weight loss
Causes and risk factors
Amyloidosis is not contagious and is not related to diet. It develops either due to overproduction of an abnormal protein, as in bone marrow diseases, or due to long-term inflammation in which the liver produces excess acute phase proteins for years, or due to inherited mutations that change the structure of the protein. A separate variant is age-related: over the years, transthyretin becomes less stable and can be deposited in the heart, so this form is often detected in elderly men with heart failure.
- Monoclonal gammopathy and multiple myeloma
- Rheumatoid arthritis and other chronic inflammations
- Tuberculosis, bronchiectasis, chronic suppuration
- Periodic illness
- Hereditary transthyretin mutations
- Old age
- Long-term hemodialysis
Diagnostics
A combination of unexplained symptoms allows one to suspect amyloidosis: large loss of protein in the urine, thickening of the walls of the heart with normal or low pressure, polyneuropathy. Next, blood and urine tests are performed for abnormal proteins, echocardiography, and assessment of kidney function. The diagnosis is confirmed only by a biopsy: a piece of tissue - kidney, subcutaneous fat, mucous membrane - is stained with Congo red and the characteristic glow is observed in polarized light. The obligatory next step is amyloid typing, because the choice of treatment depends on the form.
- Urinalysis and daily protein
- Creatinine and filtration calculation
- EchoCG and ECG
- Blood and urine tests for monoclonal proteins
- Biopsy with Congo red staining
- Amyloid typing
- Genetic research for hereditary forms
Treatment
There is no universal treatment: therapy is aimed at stopping the formation of abnormal protein. In the AL form, regimens that suppress the plasma cell clone are used, sometimes with transplantation of one's own stem cells. With the AA form, the main thing is to control the chronic inflammation that caused the disease. For the transthyretin form, protein stabilizing drugs are used. At the same time, they support the functioning of the organs: salt restriction, diuretics under the supervision of a doctor, treatment of arrhythmias, if necessary, dialysis or discussion of transplantation. Treatment is prescribed and administered by a team of specialists.
- Suppression of abnormal protein production
- Treatment of the underlying inflammatory disease
- Transthyretin stabilizing drugs
- Control of edema and heart failure
- Treatment of rhythm disturbances
- Dialysis and transplantation for severe kidney damage
- Regular monitoring and control of tests
