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Rare Diseases 2023

Amyloidosis: what é, symptoms, causes and treatment

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Amyloidosis: what é, symptoms, causes and treatment
Amyloidosis: what é, symptoms, causes and treatment
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Amyloidosis is a rare disease that occurs when amyloid protein, a type of rigid fiber, is deposited and accumulated in different organs such as the heart, skin, kidneys, liver, lungs, nervous system or digestive tract, preventing the its proper functioning.

Symptoms caused by amyloidosis vary according to the organ that the disease affects, and can cause heart palpitations, difficulty breathing or thickening of the tongue, for example.

Treatment of amyloidosis should be done with medical indication with drugs to reduce the production of amyloid protein and control symptoms.

Main symptoms

In an early stage, amyloidosis usually has no symptoms, however, in more advanced stages, symptoms such as:

  • Swelling in the legs, ankles or feet;
  • Weakness and tiredness when performing small efforts;
  • Shortness of breath during physical exertion, at rest or when lying on your back;
  • Heart palpitations;
  • Tingling or stinging sensation in hands or feet;
  • Pain in wrist, especially at night;
  • Weight loss with no apparent cause;
  • Bloody diarrhea or constipation;
  • Foamy urine;
  • Tongue thickening;
  • Difficulty swallowing;
  • Hoarseness;
  • Bleeding or bruising on the skin;
  • Excessive swelling in the belly;
  • Dizziness and fainting.

It is important to consult the general practitioner when symptoms arise that suggest amyloidosis, so that the diagnosis can be made and the most appropriate treatment initiated, in order to prevent serious damage to the affected organs.

How to confirm the diagnosis

The diagnosis of amyloidosis is made by the general practitioner through the evaluation of symptoms and blood and urine tests, which help to detect the presence of amyloid protein.

In addition, the doctor may perform a biopsy, which consists of taking a small sample of tissue from the affected organ, such as the heart, liver or kidneys, for example, to determine the type of amyloid protein.

Other tests that the doctor may order to assess organ damage are echocardiogram or magnetic resonance imaging, for example.

Possible causes

Amyloidosis is caused by the deposition of amyloid protein in tissues and some factors can contribute to the development of this disease such as age, sex, presence of other diseases or family history.

According to the cause, amyloidosis can be classified as:

1. Primary amyloidosis or AL

Primary amyloidosis, or AL, also called light-chain amyloidosis, is caused by changes in blood plasma cells and is very common in people with multiple myeloma. In the most advanced stages, this type of amyloidosis can affect the functioning of organs such as kidneys, skin, heart, liver or nerves, for example.

2. Secondary amyloidosis or AA

Secondary amyloidosis, or AA, can be caused by chronic diseases or due to prolonged periods of inflammation or infection in the body, usually longer than 6 months, as in cases of rheumatoid arthritis, familial Mediterranean fever, osteomyelitis, tuberculosis, lupus or inflammatory bowel disease. This type of amyloidosis can affect the kidneys, liver, spleen, lymph nodes, or intestines.

3. Hereditary amyloidosis or AF

Hereditary amyloidosis, also called familial amyloidosis or FA, is a form of the disease caused by a change in the baby's DNA during pregnancy, leading to the production of an abnormal protein in the liver called transthyretin (TTR), which ends up affecting mainly the nervous system, the heart and the kidneys.

Generally, the symptoms of this type of amyloidosis start in adulthood, from the age of 50 or during old age, but there are cases in which the symptoms never appear and the person never discovers that they have the disease.

4. Senile systemic amyloidosis

Senile systemic amyloidosis, also called wild-type amyloidosis, occurs when the liver produces normal TTR protein, but it can accumulate in tissues throughout life, and is more common in elderly men older than 70 years and can affect the heart or cause carpal tunnel syndrome.

5. Localized amyloidosis

Localized amyloidosis is the mildest form of amyloidosis, and occurs by the deposit of amyloid protein in specific places in the body, not affecting the body as a whole, as the protein is not transported by the blood to other organs.

The exact cause of this type of amyloidosis is unknown and usually affects the bladder, skin, or airways such as the larynx or trachea.

How the treatment is done

Treatment of amyloidosis aims to control the symptoms of the disease according to the organ affected, and may include the use of antihypertensives, anticoagulants or diuretics, when amyloidosis affects the heart.

In addition, the use of medicines such as patisiran, inotersen or tafamidis meglumine may also be recommended, to decrease the production of amyloid protein or prevent pieces of the protein from reaching the bloodstream and depositing in the organs.

The doctor may also recommend chemotherapy for cases of primary or AL amyloidosis, as well as bone marrow transplantation.

Other treatments for amyloidosis include surgery to remove the site affected by amyloid protein deposits or even a transplant of the affected organ, for example.

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