Amyloidosis - Symptoms, causes and treatment

Amyloidosis or amyloidosis is a rare disease that occurs when amyloid substances build up in body tissues. Amyloid is a protein that is produced in the bone marrow and can be stored in tissues or organs of the body.

Patients with amyloidosis often do not experience any symptoms early in the development of the disease. However, as the disease worsens, this amyloid buildup will affect the functioning of the affected organ and cause fatal complications.

Symptoms of Amyloidosis

In the early stages, people with amyloidosis do not feel any symptoms, until eventually the disease progresses to a more advanced stage. Symptoms that arise depend on where the accumulation of amyloid. 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
• 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 sufferers often do not realize that the complaints they are experiencing are symptoms of this disease. Consult a doctor if you experience the above symptoms, especially if these symptoms do not improve.

Regular check-ups with your doctor are necessary if you are diagnosed with amyloidosis. The doctor will monitor the progress of the disease and your body's response to treatment.

Causes of Amyloidosis

Amyloidosis is caused by an abnormal buildup of amyloid in the kidneys, heart, or digestive organs. Accumulation of amyloid produced in the bone marrow can interfere with the work of these organs.

Amyloid buildup can be caused by the following conditions:

• Primary amyloidosis or AL amyloidosis (immunoglobulin light chain amylodiosis)

  This condition occurs when the bone marrow produces abnormal antibodies called amyloid light chains that cannot be broken down and accumulate in the heart, kidneys, skin, nerves, and liver.

• Secondary amyloidosis or AA amyloidosis

  This condition occurs due to a buildup of type A amyloid (AA) caused by a chronic infectious or inflammatory disease, such as tuberculosis, Crohn's disease, or lupus.

• Dialysis-related amyloidosis

  This condition occurs due to the buildup of beta-2 microglobulin protein in the blood, joints, muscles, tendons, and bones. This type of amyloidosis often occurs in people who have undergone dialysis or dialysis for more than 5 years.

• Senile systemic amyloidosis

  This condition is caused by a buildup of the TTR protein (transthyretin) in the heart and surrounding tissues. This type of amyloidosis usually affects older men.

• Amyloidosis toderivative or familial amyloidosis (hATTR)

  This condition is caused by a genetic disorder, which is characterized by a buildup of protein or amyloid in several organs and tissues of the body.

• Organ-specific amylodiosis

  This condition is caused by the accumulation of amyloid substances in one specific organ, such as the skin.

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

• Male gender.
• Old age.
• Suffering from chronic infectious diseases or certain inflammatory diseases
• Have a plasma cell neoplasm.
• Have a family history of amyloidosis.
• Have a history of dialysis.
• Represents the African nation or race.

Amyloidosis Diagnosis

Amyloidosis is a rare and rare disease. In diagnosing amyloidosis, the doctor will ask about the symptoms and medical history, medications, and diseases in the patient's family. The doctor will also perform a complete physical examination. Next, the doctor will ask the patient to undergo several supporting tests, such as:

• Blood and urine test

  Blood and urine tests are performed by taking samples of the patient's blood and urine to see the presence of abnormal proteins in them, as well as to see the function of the thyroid gland and liver.

• Biopsy

  This biopsy examination 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)

  Ultrasound examination is performed to identify the severity of amyloidosis, especially in the liver and spleen.

• Echocardiogram

  An echocardiogram procedure is performed to see the function of the structure of the heart, and to identify amyloidosis that occurs in the heart.

• Genetic test

  This examination is carried out to identify whether amyloidosis is related or caused by heredity or genetics familial amyloidosis.

Amyloidosis Treatment

Amyloidosis cannot be cured. The treatment steps given are only aimed at inhibiting the development of the disease and relieving symptoms. The method of treatment given depends on the type of amyloidosis suffered by the patient.

The following are some of the treatment steps that can be taken for people with amyloidosis:

• Chemotherapy

  High-dose chemotherapy is given to treat patients with primary amyloidosis (AL amyloidosis). Chemotherapy drugs can be given alone or in combination with stem cell transplantation.

• Drugs

  Drugs may be given to treat the cause of secondary amyloidosis (AA amyloidosis), for example by giving corticosteroids to treat inflammation.

• Liver transplant

  Liver transplantation can be performed to treat 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. Usually, this therapy is done after chemotherapy. Doctors will recommend this therapy to patients AL amyloidosis.

• Kidney transplant

  If your amyloidosis is severe enough to damage your kidneys, your doctor will suggest a kidney transplant.

In addition, to help relieve symptoms of amyloidosis, doctors may advise patients to adopt a low-salt diet and give medications, such as:

• Diuretic drugs.
• Blood thinners.
• Medicines to control heart rate.
• Medicines to treat diarrhea, nausea, and vomiting.
• Pain reliever medication.

Complications of Amyloidosis

Amyloidosis can cause serious complications if not treated immediately. Some of these complications are:

• Heart failure.
• Damage to the nervous system.
• Kidney failure.

Prevention of Amyloidosis

Amyloidosis itself cannot be prevented. However, if you have any symptoms or risk factors for amyloidosis, see your doctor as soon as possible. If amyloidosis is caught early and treated promptly, disease progression can be slowed and complications prevented.