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

Pronounced: am’i-loy-dō’sis



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 or Familial amyloidosis—caused by mutations of amyloid in the blood

Risk Factors

Risk Factors

Men older than 40 are at increased risk for primary and secondary amyloidosis. People who are of Portuguese, Swedish, or Japanese descent are at increased risk for hereditary amyloidosis.

Factors that may increase your risk of getting amyloidosis include:

  • Primary amyloidosis —Multiple myeloma
  • Secondary amyloidosis

  • Hereditary amyloidosis

    • Family history of amyloidosis
    • Family history of 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
    • Clay colored stools
  • Neurological system

    • Confusion
    • Numbness, tingling, weakness in hands and feet
    • Swelling of nerves in the wrist
    • Weak hand grip
  • Cardiovascular system—Irregular heart beat
  • Respiratory system

    • Difficulty breathing
    • Shortness of breath

Edema in Lower Legs

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You will be asked 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:

  • Blood tests
  • Urine tests
  • Biopsy

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 (Amyloid light chain (AL) amyloidosis)
  • Secondary amyloidosis—from aggressive treatment of an underlying inflammatory process or disease
  • Hereditary amyloidodis

Stem Cell Transplantation

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. Medications, like chemotherapy drugs, may be used with this treatment.
  • Hereditary amyloidodis—Cells are transplanted from a donor body

Organ Transplantation

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

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 is no known way to prevent amyloidosis.


Amyloidosis Foundation

Office of Rare Diseases Research—National Institutes of Health


Canadian Organization for Rare Disorders

The Kidney Foundation of Canada


Amyloid light chain (AL) amyloidosis. EBSCO DynaMed website. Available at:
Updated April 2, 2014. Accessed August 7, 2015.

Amyloidosis. Cleveland Clinic website. Available at:
. Accessed August 19, 2014.

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

National Organization for Rare Disorders. A physician’s guide to amyloidosis. National Organization for Rare Disorders website. Available at: Published 2010. Accessed August 19, 2014.

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:
Accessed August 19, 2014.

Last reviewed August 2014 by Michael Woods, MD
Last Updated: 8/19/2014

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