Amyloidosis or amyloidosis is a rare disease that occurs due to the buildup of amyloid substances in body tissues. Amyloid itself is a protein that is produced in the bone marrow and can be stored in tissues or organs of the body.

In its early stages, amyloidosis often does not cause any symptoms. However, as the disease worsens, amyloid buildup can affect the functioning of the affected organ and cause serious complications.

Causes of Amyloidosis

Amyloidosis is caused by a buildup of amyloid in body organs, such as the kidneys, heart, or digestive organs. This amyloid buildup can occur due to the following conditions:

  • AL amyloidosis (immunoglobulin light chain amylodiosis) or primary amyloidosis This condition occurs when the bone marrow produces abnormal antibodies ( amyloid light chains ) that cannot be broken down. These antibodies can affect the work of the heart, kidneys, skin, nerves, and liver.
  • AA amyloidosis or secondary amyloidosis Secondary amyloidosis
    results from a buildup of type A amyloid (AA) caused by a chronic infectious or inflammatory disease, such as tuberculosis, Crohn's disease , or lupus . This type of amyloidosis can affect the kidneys, digestion, and heart.
  • Dialysis-related amyloidosis
    This condition occurs due to the buildup of the protein beta-2 microglobulin in the blood, joints, muscles, tendons, and bones. This type of amyloidosis often occurs in people who have had more than 5 years of dialysis or dialysis procedures.
  • Senile systemic amyloidosis
    This condition is caused by a buildup of the protein TTR ( transthyretin ) in the heart and surrounding tissues. This type of amyloidosis usually affects men over the age of 60.
  • Familial amyloidosis (ATTR) or hereditary amyloidosis
    This type of amyloidosis is caused by a genetic disorder, which is characterized by the accumulation of protein or amyloid in several organs, such as the heart, liver, and kidneys.
  • Organ-specific amylodiosis
    This condition is caused by the buildup of amyloid substances in one specific organ, such as the skin.

Amyloidosis risk factors

Some of the factors that can increase a person's risk of suffering from amyloidosis are:

  • Male gender
  • Over 60 years old
  • Suffering from chronic infectious diseases or certain inflammatory diseases
  • Have a plasma cell disease , such as multiple myeloma
  • Have a family history of amyloidosis
  • Have you ever had a dialysis procedure ?

Symptoms of Amyloidosis

Amyloidosis does not cause any symptoms until the disease is in a more advanced stage. Symptoms of amyloidosis can vary, depending on the organ or tissue affected.

Some of the common symptoms of amyloidosis are:

  • Tired and limp
  • Joint pain
  • Thickened skin or easy bruising
  • Swollen tongue
  • Tingling or numb hands and feet
  • Irregular heartbeat ( arrhythmia )
  • Hard to breathe
  • Swollen limbs
  • Diarrhea and bloody stools
  • Drastic weight loss

When to go to the doctor

Symptoms of amyloidosis are not typical, so the sufferer often goes unnoticed. Therefore, do an examination to the doctor if you experience the symptoms mentioned above, especially if these complaints do not improve.

Have regular check-ups with your doctor if you have been diagnosed with amyloidosis. The doctor will monitor the progress of the disease and your body's response to treatment.

Amyloidosis Diagnosis

To diagnose amyloidosis, the doctor will ask about the symptoms, the patient's and family's medical history, then perform a complete physical examination. Next, the doctor will ask the patient to undergo several supporting tests, such as:

  • Blood and urine
    tests Blood and urine tests are performed by examining the patient's blood and urine samples. This test aims to see the presence of abnormal proteins in the blood and urine, as well as to see the function of the thyroid gland and liver.
  • Biopsy A
    biopsy is done by taking a tissue sample from a part of the body suspected of having amyloidosis, to see the presence of amyloid. Samples may be taken from fatty tissue in the abdomen, bone marrow, and sometimes from the mouth or rectum.
  • Ultrasound (ultrasonography)
    Scanning with ultrasound aims to determine the severity of amyloidosis, especially in the liver.
  • Echocardiogram Echocardiogram
    procedure is done to see the function of the structure of the heart and detect amyloidosis that occurs in the heart.
  • Genetic testing
    This examination aims to determine whether amyloidosis is related or caused by genetic disorders.

Amyloidosis Treatment

There is no specific treatment for amyloidosis. The treatment given aims to relieve symptoms and inhibit the development of the disease. Methods that can be done by doctors include:

  • Chemotherapy Chemotherapy
    drugs are given to treat patients with primary amyloidosis ( AL amyloidosis ). Chemotherapy can be given as a single treatment or in combination with stem cell transplantation.
  • Drugs
    Certain drugs can be given to treat the cause of secondary amyloidosis ( AA amyloidosis ). For example, if it is caused by bacteria, the doctor may prescribe antibiotics and corticosteroids to reduce inflammation.
  • Liver transplantation Liver
    transplantation is the mainstay of treatment for amyloidosis caused by hereditary amyloidosis .
  • Autologous stem cell transplant (ASCT)
    This procedure is done by taking stem cells from the patient's own body to replace damaged cells. Generally, this procedure is done after chemotherapy. Autologous stem cell transplantation is usually recommended for patients with AL amyloidosis .
  • Kidney transplant
    If your amyloidosis is severe enough to damage your kidneys, your doctor will recommend a kidney transplant .

In addition to undergoing the above treatment, the doctor will advise the patient to apply a low-salt diet and provide supporting drugs, such as:

  • Diuretic drugs
  • Blood thinners
  • Medication to control heart rate
  • Medication to relieve diarrhea , nausea, and vomiting
  • Pain reliever

Complications of Amyloidosis

Untreated amyloidosis can lead to serious complications such as:

  • Heart failure
  • Nervous system damage
  • Kidney failure

Prevention of Amyloidosis

Amyloidosis cannot be prevented, but it can be detected early by having regular check-ups with your doctor, especially if you are at risk for amyloidosis. In addition, you are recommended to undergo treatment to completion if you suffer from diseases that can trigger amyloidosis.

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