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(Amyloid; Primary Amyloid; Secondary Amyloid; Hereditary Amyloid)

Pronounced: am’i-loy-dō’sis
En Español (Spanish Version)

Definition | Causes | Risk Factors | Symptoms | Diagnosis | Treatment | Prevention


Amyloidosis is a group of rare diseases. It involves deposits of a protein called amyloid. These proteins build up in body tissues and organs. There are three major forms:

  • Primary amyloidosis—found in the heart, lungs, skin, tongue, thyroid gland, intestines, liver, kidneys, and blood vessels
  • Secondary amyloidosis—found in the spleen, liver, kidneys, adrenal glands, and lymph nodes
  • Hereditary amyloidosis—found in the nerves, heart, blood vessels, and kidneys


The causes of amyloidosis vary in its different forms.

  • Primary amyloidosis—caused by the deposit of antibody fragments; associated with bone marrow disorders such as multiple myeloma
  • Secondary amyloidosis—develops in response to chronic infection or inflammatory disease
  • Hereditary amyloidosis—caused by mutations of amyloid in the blood

Risk Factors

The following factors increase your chance of developing amyloidosis:

  • Primary amyloidosis
    • Sex—men are at greater risk
    • Age—older than 40
    • Multiple myeloma
  • Secondary amyloidosis
    • Sex—men are at greater risk
    • Age—older than 40
    • Underlying chronic inflammatory or infectious diseases, such as: tuberculosis, rheumatoid arthritis, and osteomyelitis
    • History of Mediterranean fever
    • Hemodialysis —removal of blood from the arteries, cleansing it, adding nutrients, and returning it to the veins
    • Family history
  • Hereditary amyloidosis
    • Family history of amyloidosis
    • Ethnicity: Portuguese, Swedish, Japanese
    • Familial Mediterranean fever


Symptoms for all forms of amyloidosis include:

  • Fatigue
  • Weight loss

The extent of the disease and the type of organ affected determine the symptoms. Symptoms can vary from mild to severe. The following is a list of additional symptoms as they relate to specific body systems:

  • Urinary tract— kidney failure
  • Skin—easy bruising, purplish skin around the eyes caused by small blood vessels leaking into the skin
  • Lymphatic system—enlarged lymph nodes
  • Endocrine system—enlarged thyroid gland
  • Digestive system
    • Swallowing difficulties
    • Enlarged tongue
    • Diarrhea
    • Intestinal obstruction
    • Malabsorption—poor absorption of nutrients from the intestinal tract
    • Clay colored stools
  • Neurological system
    • Dementia
    • Numbness, tingling, weakness in hands and feet
    • Swelling of nerves in the wrist
    • Weak hand grip
  • Cardiovascular system
    • Fluid build up in the tissues, causing swelling
    • Abnormal heart rhythm
    • Enlarged heart
    • Sudden death
  • Respiratory system
    • Difficulty breathing
    • Shortness of breath

Edema in Lower Legs

Pedal Edema
Copyright © Nucleus Medical Media, Inc.


Your doctor will ask about your symptoms and medical history. A physical exam will be done. The doctor may refer you to specialists.

Your bodily fluids and tissues may be tested. This can be done with:

Images may be taken of your bodily structures. This can be done with:

Your nerves may be examined. This can be done with nerve conduction velocity.


There is no cure for any form of this disease. The main goal is to treat an underlying condition. Treatment to decrease or control symptoms and complications has been only slightly successful. Talk with your doctor about the best plan for you. Treatment options include:

Chemotherapy is the use of a series of drugs. It may be given by pill, injection, or via a catheter. In this case, it is used to help improve symptoms and slow the progression of the disease by interrupting the growth of the abnormal cells that produce amyloid protein. It is used in:

  • Primary amyloidosis
  • Secondary amyloidosis—an aggressive treatment of the underlying inflammatory process or disease
  • Hereditary amyloidodis

Stem cells are immature cells. They are transplanted to replace damaged or diseased cells. This process is used in:

  • Primary amyloidodis—Your own immature blood cells are transfused. This process is called autologous stem cell transplant. Medicines, like chemotherapy drugs, may be used with this treatment.
  • Hereditary amyloidodis—Cells are transplanted from a donor body.

This is the removal of a diseased organ and transfer of a healthy donor organ to the recipient. In these cases, it is the liver or kidney. It may be done in all major forms of amyloidosis. In the case of hereditary amyloidosis, it may stop the progression of the disease.

This is the removal of the spleen. This can decrease the production of amyloid. It may be done for primary and secondary amyloidodis.

Treatments for all forms of amyloidosis include:

  • Medications—such as diuretics to rid your body of excess fluid and steroids to relieve inflammation
  • Dietary changes—The diet chosen will depend on the organ affected and related complications.
  • Hospice—Treatment to relieve pain and suffering from progressively fatal complications.


There are no known preventative steps.


Amyloidosis Foundation


NIH Office of Rare Diseases



Canadian Organization for Rare Disorders


The Kidney Foundation of Canada



National Organization for Rare Disorders. A physician's guide to amyloidosis. National Organization for Rare Disorders website. Available at: http://www.rarediseases.org/docs/Amyloidosis_10_22.pdf. Published 2010. Accessed August 1, 2013.

Amyloid light chain (AL) amyloidosis. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php. Updated July 3, 2013. Accessed August 1, 2013.

Amyloidosis. Cleveland Clinic website. Available at: http://my.clevelandclinic.org/disorders/diseases/amyloidosis/can_overview.aspx. Accessed August 1, 2013.

Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003; 349:583.

Westermark P, Benson MD, Buxbaum JN, et al. Amyloid: toward terminology clarification. Report from the Nomenclature Committee of the International Society of Amyloidosis. Amyloid 2005; 12:1.

What is amyloidosis? Boston University website. Available at: http://www.bu.edu/amyloid/about/what/. Accessed August 1, 2013.

Last reviewed August 2013 by Igor Puzanov, MD; Michael Woods, MD

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.

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