What is amyloidosis? Can it be cured?

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Amyloidosis or amyloidosis is the name for a group of rare, serious conditions caused by the accumulation of an abnormal protein called amyloid in organs throughout the body. This buildup can make it difficult for organs to function properly, and if left untreated, the disease can lead to irreversible organ failure.

1. What is amyloidosis?

Amyloidosis (or amyloidosis) is a rare and serious protein deposition disease. It is caused by an abnormal protein called amyloid that builds up in tissues or organs. When the amount of amyloid protein deposits increases, they disrupt the structure and interfere with the physiological function of the tissue or organ. Eventually, amyloid protein deposition will begin to cause symptoms and organ failure, possibly even death.
Amyloid protein deposition in amyloidosis can be localized to any organ in the body, such as the lungs, skin, bladder or intestines, or it can be systemic. This is also the most common form. Although amyloidosis is not classified as a cancer, it can be associated with some blood cancers such as multiple myeloma.

2. Classification of amyloidosis

There are different types of amyloidosis or amyloidosis, including the following:
Light chain amyloidosis: This is the most common type of amyloidosis. Amyloid proteins that accumulate in tissues are called light chains, such as kappa or lambda chains. This type of disease is a disorder of the white blood cells, which are responsible for the production of immunoglobulins or antibodies, which are proteins that fight infection, and have been linked to multiple myeloma. In this type of amyloidosis, light chain proteins are misfolded and overproduced, deposited in tissues and can damage one or more organs such as the heart, kidneys, nerves, and digestive system. Autoimmune amyloidosis: This type of amyloidosis is also called “secondary amyloidosis” or “inflammatory amyloidosis.” The disease is characterized by amyloid protein accumulation in tissues and has been implicated in a number of chronic diseases, such as diabetes, tuberculosis, rheumatoid arthritis, and inflammatory bowel disease. In addition, the disease is also thought to be related to aging. Hereditary or familial amyloidosis: This is a very rare type where the disease is passed on from generation to generation in a family. Proteins made in hereditary amyloidosis can cause heart problems and can cause carpal tunnel syndrome and eye abnormalities.

3. What are the symptoms of amyloidosis?

Degenerative amyloidosis is a multisystem disease that leads to a variety of clinical manifestations. As a result, the patient may see or be referred to one of several subspecialists, most commonly a nephrologist, cardiologist, or neurologist.
Recent advances in interventional therapy have made early and accurate diagnosis crucial if patients are to benefit early and adequately. Most patients have more than one organ affected by the disease and therefore the discovery of a combination of any of the following will raise suspicion of amyloidosis:
Renal : Proteinuria is indicative of amyloidosis. This is a common manifestation of the disease, which is often severe and leads to nephrotic syndrome. In some cases, there is progressive uremia, as one of the early manifestations of kidney disease. In addition, abnormal accumulation of body fluids, such as swelling in the legs and abdomen, in the absence of heart failure is an important feature of nephrotic syndrome. Cardiac: Degenerative amyloidosis is also commonly associated with the heart. Amyloid infiltration into the myocardium leads to thickening of the ventricular wall and progression to heart failure. Rapidly progressive congestive heart failure with thickened ventricular walls is the classic manifestation of cardiac amyloidosis. Nervous system: Although less common than kidney or heart involvement, neuropathy can be a significant problem in amyloidosis. This is sometimes the predominant and present feature of neurologic amyloidosis. Lesions of this type are usually painless, but are replaced by numbness and tingling sensations in the feet that progress to the legs and eventually the upper extremities, manifesting as loss of movement in the feet and extending upward. Carpal tunnel syndrome is also commonly seen, due to soft tissue infiltration causing compression of the median nerve. In the liver and spleen: When amyloidosis has caused disease in the liver, the spleen will increase the risk of spontaneous rupture. Therefore, in most patients, there are usually no symptoms in the liver. However, when the liver is enlarged, it feels very hard to the touch with an enlarged spleen becoming the most noticeable signs. Gastrointestinal: Accumulation of amyloid in the gastrointestinal tract can affect motility in the esophagus and small and large intestines. There may also be malabsorption, ulceration, bleeding, weak gastric function, gastrointestinal obstruction, protein loss, and diarrhea. In addition, loss of taste and difficulty in eating solid foods due to an enlarged tongue are due to amyloid infiltration. Respiratory system: Respiratory problems associated with amyloidosis often go hand-in-hand with symptoms of heart disease. In the focal form of amyloidosis, the airways and airways can become blocked by amyloid deposition in the nose - sinuses, larynx, and trachea. In addition, fluid accumulation in the pleural space (pleural effusion) is quite common in patients with congestive heart failure due to amyloidosis. Osteoarthritis: Joint abnormalities occur in amyloidosis due to the accumulation of amyloid deposits in the lining of the joints. Joint cartilage or the synovial membrane and joint fluid can also be affected with symptoms similar to those of rheumatoid arthritis.

4. How is amyloidosis diagnosed?

When suffering from amyloidosis, early diagnosis is considered the key to survival and treatment to regain life.
The diagnosis of amyloidosis is suspected after a detailed history and clinical evaluation, including the requirement for aspiration biopsies of the abdomen and/or biopsies of relevant organs. The biopsy specimen will be examined microscopically and stained with a dye called Congo red, which will produce a green color when viewed in a polarized microscope if amyloid is present. When amyloidosis is diagnosed on tissue biopsy, the patient must also be further evaluated to determine which organs are also affected.
When a tissue biopsy of amyloidosis has been conducted, it is important to determine the type of amyloidosis. This essential step is meant to contribute to the development of a specific treatment regimen later.

5. Can amyloidosis be cured?

Treatments available depend on the type of amyloidosis and the patient's clinical condition.
In light chain amyloidosis, the cause is abnormal plasma cells and, therefore, targeted chemotherapy to destroy those cells, underpinning the treatment. The two most important determinants of long-term survival with light-chain amyloidosis are the presence and extent of cardiac disease and hematologic response to therapy. In contrast, hereditary amyloidosis can be treated with liver transplantation. At the same time, genetic counseling is recommended for individuals with hereditary amyloidosis and family members. In addition, the primary treatment of autoimmune amyloidosis is supportive. However, kidney transplantation has been performed successfully for autoimmune amyloidosis nephropathy.
Besides, supportive treatment such as congestive heart failure treatment, nutritional attention, autonomic neuropathy treatment is a very important concurrent measure. Because of the complexity of the disease, the patient should be treated and monitored at a center experienced in amyloidosis or at least the patient should have an initial assessment at the center and with ongoing communication throughout the course of the disease. local treatment.
In a nutshell, amyloidosis or amyloidosis is a group of diseases in which abnormal proteins, called amyloids, accumulate in tissues. Symptoms and treatment depend on the type and severity of the disease. However, with early intervention, the function and structure of tissues and organs are more likely to recover intact.

With the dangers that the disease causes, we should not be subjective with amyloidosis. If you need more in-depth advice on your medical condition, you can go directly to Vinmec International General Hospital to be examined and consulted by a team of highly qualified doctors with many years of experience in medical examination and treatment. treatment.

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Source: cancer.net - rarediseases.org - nhs.uk