Amyloidosis

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

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

Causes of Amyloidosis

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

• AL amyloidosis (immunoglobulin light chain amyloidosis) 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 heart, kidneys, skin, nerves, and liver.
  
• AA amyloidosis or secondary amyloidosis
  Secondary amyloidosis occurs due to the accumulation of type A (AA) amyloid caused by chronic infectious or inflammatory diseases, such as tuberculosis, Crohn’s disease, or lupus. This type of amyloidosis can affect the kidneys, digestive tract, and heart.
• Dialysis-related amyloidosis
  This condition occurs due to the accumulation of beta-2 microglobulin protein in the blood, joints, muscles, tendons, and bones. This type of amyloidosis often occurs in people who have been on dialysis for more than 5 years.
• Senile systemic amyloidosis
  This condition is caused by the accumulation 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 amyloidosis
  This condition is caused by the accumulation of amyloid substances in one specific organ, such as the skin.

Risk factors for amyloidosis

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

• Male gender
• Aged over 60 years
• Suffering from certain chronic infectious diseases or inflammatory diseases
• Suffering from plasma cell disease, such as multiple myeloma
• Having a family history of amyloidosis
• Have undergone dialysis procedures

Symptoms of Amyloidosis

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

Some common symptoms of amyloidosis are:

• Tired and weak
• Joints feel sore
• Thickened skin or easy bruising
• Swollen tongue
• Tingling or numb hands and feet
• Irregular heartbeat (arrhythmia)
• Hard to breathe
• Swollen legs
• Diarrhea and bloody stools
• Drastic weight loss

When to see a doctor

Amyloidosis symptoms are not typical so that sufferers often do not realize it. Therefore, go to the doctor if you experience the symptoms mentioned above, especially if the complaint does not improve.

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

Diagnosis of Amyloidosis

To diagnose amyloidosis, the doctor will ask about the symptoms, the patient’s and his/her 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 done by examining blood and urine samples from the patient. 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 organs.
• Biopsy
  A biopsy is done by taking a tissue sample from a part of the body suspected of having amyloidosis, to see if amyloid is present. Samples can be taken from fatty tissue in the abdomen, bone marrow, and sometimes from the mouth or rectum.
• USG (ultrasonography)
  Ultrasound scans are used to determine the severity of amyloidosis, especially in the liver.
• Echocardiogram
  An echocardiogram procedure is performed to see the function of the heart structure and detect amyloidosis that occurs in the heart.
• Genetic testing
  This examination aims to determine whether amyloidosis is related to or caused by genetic disorders.

Amyloidosis Treatment

There is no specific treatment for amyloidosis. Treatment is aimed at relieving symptoms and inhibiting the progression of the disease. Methods that can be performed 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.
• Medications
  Certain medications may be given to treat the cause of secondary amyloidosis (AA amyloidosis). For example, if it is caused by bacteria, your doctor may prescribe antibiotics and corticosteroids to reduce inflammation.
• Liver transplantation
  Liver transplantation is the main treatment for amyloidosis caused by hereditary amyloidosis .
• Autologous stem cell transplantation (ASCT)
  This procedure involves taking stem cells from the patient’s own body to replace damaged cells. This procedure is usually performed after chemotherapy. Autologous stem cell transplantation is usually recommended for people with AL amyloidosis .
• Kidney transplant
  If the amyloidosis condition is severe enough to damage the kidneys, the doctor will recommend a kidney transplant .

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

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

Complications of Amyloidosis

Untreated amyloidosis can cause 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 undergoing regular check-ups with a doctor, especially if you are at risk for amyloidosis. In addition, you are advised to undergo complete treatment if you suffer from a disease that can trigger amyloidosis.

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