Amyloidosis

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:

  • Causes

    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

  • Definition

    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

  • Diagnosis

    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:

    • Blood tests
    • Urine tests
    • Biopsy

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

    • Electrocardiogram (ECG)
    • Echocardiogram
    • Abdominal ultrasound
    • MRI

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

  • Prevention

    There are no known preventative steps.

  • 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

    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.

  • Treatment

    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: