- Amyloidosis (amyloidosis): causes
- Amyloidosis (amyloidosis): symptoms
- Amyloidosis (amyloidosis) - types
- Amyloidosis (amyloidosis): diagnosis
- Amyloidosis (amyloidosis): treatment
- Amyloidosis (amyloidosis): prognosis
Amyloidosis (amyloidosis, betafibrillosis) is a disease in which proteins are stored in the body. Depending on where these plaques are located, patients experience different symptoms - for example, if the kidneys are involved, proteinuria may occur, and when proteins accumulate between the cells of the heart muscle - heart rhythm disturbances or heart failure. What other symptoms of amyloidosis may be? What is the treatment of amyloidosis and what is the prognosis of patients who will develop this disease?
Amyloidosis( Amyloidosis ,betaphibrillosis ) is not one, but actually a group of diseases whose common denominator is the accumulation of protein deposits between the cells of various tissues of the body.
These proteins are referred to as amyloid, diseases related to its deposition are sometimes characterized not only by the above-mentioned name, but also they are called amyloidoses - the second name comes from the fact that after treating protein deposits with iodine - similar to how it is place in the case of starches - they have a bluish color.
Amyloidosis - due to how many problems can lead to its occurrence - can develop in patients of all ages, but typically this disease is found in people over 40 years of age.
Amyloidosis (amyloidosis): causes
The main problem in the course of amyloidosis is the accumulation of proteins in the extracellular spaces - this situation is unfavorable because it ultimately disrupts the functioning of those tissues in which such protein deposits are found.
The direct causes of amyloidosis are different, however: some amyloidoses can generally be considered congenital diseases, resulting from various genetic mutations, others with kpei amyloidosis are acquired during life and are associated with various diseases.
Amyloidosis (amyloidosis): symptoms
For quite a long time after developing amyloidosis, the patient may not be aware of it at all - symptoms of amyloidosis,especially in the early stages of the disease, they can be very difficult to catch.
The exact symptoms of amyloidosis depend on the organ in which the abnormal protein builds up.
However, along with the accumulation of more and more protein deposits between various cells of the body, there are more and more disturbances in their functions, and therefore patients may experience more and more ailments.
One of the symptoms that may appear first is an enlarged liver (spleen enlargement is less common).
Renal involvement is quite common in the course of amyloidosis - in this case, patients may develop proteinuria (which may be an isolated problem or part of the nephrotic syndrome), and eventually even lead to renal failure.
And if protein deposits accumulate within the heart, then symptoms of amyloidosis may be heart rhythm disturbances, as well as complaints related to progressive heart failure.
In general, amyloidosis may also include:
- tongue enlargement (a symptom considered quite characteristic of amyloidosis)
- diarrhea
- weight loss
- weakness, fatigue
- bloody runs in various parts of the body (i.e. bruises)
- bruises around the eyes
- sensory disturbance in the hands and feet
- symptoms of carpal tunnel syndrome
Amyloidosis (amyloidosis) - types
The most common type of amyloidosis isprimary amyloidosis(AL - light-chain amyloidosis). In this case, protein deposits are made of light chains of monoclonal immunoglobulins and it develops in the course of diseases classified as monoclonal gammapathies (multiple myeloma can be mentioned as an example).
Other types of amyloidosis appear:
- secondary amyloidosis(AA - amyloidosis A, also known as reactive) - in this case there is a deposition of a protein, the precursor of which is SAA - acute phase protein;
secondary amyloidosis develops in connection with various diseases in which inflammation occurs - here diseases that may contribute to the occurrence of amyloidosis, e.g. rheumatoid arthritis, systemic lupus erythematosus or Crohn's disease,
the body can also develop in connection with various infections (especially those that persist for a long time; there is a possibility of amyloidosis also in drug addicts who inject drugs- the disease may develop in them due to infections caused by injecting drugs) - dialysis amyloidosis(Aβ2M - beta-2-microglobulin amyloidosis) - it develops in connection with chronic dialysis therapy, in its case the amyloid precursor is β2-microglobulin
- familial amyloidosis -a rare, genetically determined form of amyloidosis; it may occur as a result of a mutation of various genes (e.g. genes for transthyretin - thyroxine transporting protein - then the disease is abbreviated as ATTR - transthyretin amyloidosis)
In addition to those already mentioned, other diseases are also associated with the deposition of amyloid deposits, such as Alzheimer's disease, prion diseases, cerebral amyloid angiopathy and familial corneal amyloidosis.
Amyloidosis (amyloidosis): diagnosis
The image of the disease is extremely uncharacteristic and difficult to recognize. For this reason, people who have diseases that may be potentially associated with amyloidosis (e.g. in RA) should inform their attending physician about any new ailments that they notice - then it is possible to start a diagnosis that will confirm or exclude amyloidosis.
If amyloidosis is suspected, first of all laboratory tests are performed (e.g. urine test with the assessment of its protein concentration or tests of monoclonal proteins and light chains of immunoglobulins in blood serum or urine).
However, the final confirmation that the patient suffers from amyloidosis can be obtained only after biopsy, microscopic examination of the material obtained from it, and observation of protein deposits.
Preliminary biopsy is taken from easily accessible tissues (e.g. adipose tissue), and only when it becomes absolutely necessary, material is taken from other organs, e.g. from the kidneys or liver.
Amyloidosis (amyloidosis): treatment
The method of treating amyloidosis depends on the exact form of the disease in a given patient. If the patient suffers from primary amyloidosis, chemotherapy and bone marrow transplantation are used primarily.
- How does chemotherapy work?
- Bone marrow transplantation: indications, course, complications
If the patient has secondary amyloidosis related to some other disease, then it is first of all necessary to treat the related inflammation and to control the course of this disease as much as possible.diseases.
As an alternative, it is possible to give patients a drug that reduces the accumulation of protein deposits - colchicine.
There are also attempts to use anti-inflammatory and immunosuppressive agents in the treatment of amyloidosis - reducing the intensity of inflammation in this case would lead to a reduction in the production of amyloid precursors, but so far it has not been possible to clearly confirm the effectiveness of such therapy.
Additionally - depending on the organs involved - patients receive treatment aimed directly at their disorders.
For example, in patients with heart amyloidosis, which led to cardiac failure, diuretics or preparations belonging to angiotensin converting enzyme inhibitors (ACEI) may be used.
Amyloidosis (amyloidosis): prognosis
Like treatment, the prognosis for amyloidosis depends on the type of disease in the patient. In the case of primary amyloidosis - if untreated - patients usually die within a year of the onset of the disease.
The prognosis of patients with secondary amyloidosis is better - on average, they survive for about a decade after the onset of the disease.
The exact prognosis depends on the results of amyloidosis treatment, and (in the case of secondary amyloidosis) the results of the treatment of the underlying disease.
In general, amyloidosis is an incurable disease, but it is possible to slow down its course, and to administer medications to the patient to alleviate the symptoms associated with the disease.
Sources:
- Interna Szczeklik 2016/2017, ed. P. Gajewski, publ. Practical Medicine
- Zdrojewski Z., Amyloidosis in rheumatic diseases, Annals of the Pomeranian Medical University in Szczecin, 2010, 56, Suppl. 1, 7-15
- Olesińska M. et al., Primary AL amyloidosis with cardiac involvement, Folia Cardiologica Excerpta 2012, vol. 7, no. 4, 194-200
- Robert O Holmes, Amyloidosis, Medscape, May 2022; on-line access: https://emedicine.medscape.com/article/335414-overview