Posted September 23, 2022 by Anusha ‐ 2 min read

Amyloidosis (also called 'primary' amyloidosis) is a blood illness in which a special protein builds up in various parts of the body. This protein, called 'M-protein', is actually made up of pieces from immunoglobulins (also called antibodies) which are naturally in the body and fight off infection.

Causes of Amyloidosis

  • We don’t yet know why some people get AL amyloidosis, even though 1,000-3,000 new cases are found each year in the US.

  • About 2/3 of these patients are male, and almost all of them are over the age of 40.

  • Although this type of amyloidosis can occur by itself, it often happens with other blood disorders, such as multiple myeloma and Waldenstrom’s Macroglobulinemia.

  • Both of these are diseases of the type of blood cells that produce antibodies.

Symptoms of Amyloidosis

Organ or Organ SystemSymptom
KidneyKidney failure, fluid retention, swelling, shortness of breath
HeartHeart failure, arrhythmias, heart attack
GastrointestinalLiver/spleen swelling, GI bleeding, malabsorption
NeurologicPain and numbness
Blood vesselsLow blood pressure
BloodBleeding, anemia
LungShortness of breath, fluid in the lung
SkinThickened skin, easy bruising

Diagnosis of Amyloidosis

Lab tests

  • Urinalysis is used to look for amyloid proteins in the urine and to check for kidney damage.

  • Blood tests are used to look for amyloid proteins in the blood and to check how well your kidneys are working.

  • A kidney biopsy may be performed to look for amyloid deposits in kidney tissue and help identify the type of amyloidosis.

  • Depending on your symptoms, your health care professional may suggest other lab tests.

Imaging tests

  • Health care professionals may use imaging tests to check for signs of dialysis-related amyloidosis, such as bone cysts, bone lesions, and amyloid deposits in or between bones, joints, tendons, and ligaments.

  • X-rays use a small amount of radiation to create pictures of the inside of your body.

  • Computed tomography (CT) scans use a combination of x-rays and computer technology to create images of the inside of your body.

  • Magnetic resonance imaging (MRI) uses a magnetic field and radio waves—without radiation—to make pictures of your organs and soft tissues inside your body.

  • Ultrasounds use sound waves to look at structures inside your body.

Genetic tests

Genetic testing can be used to look for specific gene mutations that are known to cause amyloidosis. Your health care professional may use genetic testing to help identify the type of amyloidosis you have.

Treatment of Amyloidosis

Because amyloidosis is caused by too many antibodies, which come from blood cells, it is best treated in collaboration with a doctor who looks at blood and blood cancers (Hematologist/Oncologist). Treatment usually includes some sort of chemotherapy; some of the most common drugs used are:

  • Steroids

  • Cyclophosphamide

  • Bortezomib

  • Rituximab

  • Lenalidomide

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