KnowYourDisease.Com Amyloidosis Definition, Causes, Symptoms, Diagnosis & Treatment, Cardiac Amyloidosis, Primary Amyloidosis, Secondary Amyloidosis, Amyloidosis Disease, Hereditary Amyloidosis
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(Amyloid, Primary Amyloid, Secondary Amyloid, Hereditary Amyloid)

Amyloidosis is a group of rare diseases characterized by deposits of a protein called amyloid which accumulate in body tissues and organs, impairing normal function.
  • 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
  • These conditions are serious and require care from your doctor.
The causes of amyloidosis vary in its different forms.
  • Primary amyloidosis–cause unknown
    • The condition is related to bone marrow and the inability of antibodies to breakdown in the blood stream ormultiple myeloma (cancer of the plasma cells).
    • No other disease is present.
  • Secondary amyloidosis
    • Develops in response to infection, inflammatory disease, or sometimes cancer.
  • Hereditary amyloidosis
    • Caused by mutations of specific proteins (amyloid) in the blood.

Risk Factors:
The following factors increase your chances 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
    • 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
    • Ethnicity: Portuguese, Swedish, Japanese
    • Familial Mediterranean fever
If you experience one or more of these symptoms, contact your doctor for a complete physical examination.
  • Symptoms for all forms of amyloidosis
    • Fatigue
    • Weight loss
    • Enlarged liver
    • Enlarged spleen
    • Signs of heart failure
  • Symptoms can be none to several and mild to severe, depending on the extent of the disease and the type of organ affected. The following is a list of additional symptoms as they relate to specific body systems:
    • Urinary tract
      • Kidney failure
    • Skin
      • Easy bruising
      • Skin purpura (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
      • Enlarged liver
      • Diarrhea
      • Intestinal obstruction
      • Malabsorption (inadequate absorption of nutrients from the intestinal tract)
      • Clay colored stools
    • Neurologic system
      • Dementia–possible link to development of Alzheimer’s disease
      • Numbness, tingling, weakness in hands and feet
      • Swelling of nerves in the wrist
      • Weak hand grip
    • Cardiovascular system
      • Fluid accumulation in the tissues, causing swelling (edema)
      • Abnormal heart rhythm (arrhythmia)
      • Enlarged heart
      • Heart failure
      • Sudden death
      • Respiratory system
      • Difficulty breathing
      • Shortness of breath
Amyloidosis can be difficult to recognize because it produces so many complications. Underlying conditions may be fatal before amyloidosis is either suspected or diagnosed.

Your doctor will ask about your symptoms and medical history and perform a physical exam. Depending on your symptoms and his findings the doctor may refer you to see one or many different specialists.

Tests may include the following :

  • Biopsy–removes a small sample of tissue or organ, either by needle or incision.
  • Electrocardiogram (ECG)–measures the electrical activity of the heart to diagnose heart disease
  • Echocardiogram–creates a detailed, moving image of your heart using high frequency sound waves
  • Kidney Function Evaluation–determines if there is excess protein in the urine
  • Urinalysis–chemically and microscopically examines urine for disease
  • Serum Creatinine–blood test to measure kidney function and muscle mass
  • Blood Urea Nitrogen (BUN) levels–blood test to measure kidney function
  • Abdominal Ultrasound–a test that uses sound waves to examine internal organs and blood vessels for abnormalities
  • Nerve Conduction Velocity–evaluates the condition of the nerves
There is no cure for any form of amyloidosis. The main consideration is to treat an underlying condition. Treatment to decrease or control symptoms and complications of amyloidosis has been only modestly successful. Talk with your doctor about the best treatment plan for you. Treatment options include:

Primary Amyloidosis

  • Autologous stem cell transplantation–the process of transfusing one’s own immature blood cells to replace diseased or damaged cells. Drugs which are often used include:
    • Melphalan
    • Prednisone
    • Thalidomide
    • Colchicine

Surgical Intervention

  • Organ transplantation–removal of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient
  • Splenectomy–removal of the spleen to decrease the production of amyloid

Secondary Amyloidosis

Aggressive treatment of the underlying inflammatory process or disease to improve symptoms and/or slow progression of the disease. Drugs which are often used include:

  • Melphalan
  • Prednisone
  • Thalidomide
  • Colchicine

Surgical Intervention

  • Organ transplantation–removal of a diseased organ (liver or kidney) and transfer of a healthy donor organ (liver or kidney) to the recipient
  • Splenectomy–removal of the spleen to decrease the production of amyloid

Hereditary Amyloidosis

The use of chemicals to treat or control symptoms and/or slow progression of the disease using Colchicine.

Surgical Intervention

  • Organ transplantation–removal of a diseased organ (liver) and transfer of a healthy donor organ (liver) to the recipient
  • Stem cell transplantation–the process of transferring cells from a donor body to the recipient (patient)

The Following Are Broad Treatments Used in All Forms of Amyloidosis:

  • Medications
    • Diuretics–to rid your body of excess fluid
    • Steroids–to relieve inflammatory process
  • Lifestyle
    • Special diets depending on the organ(s) affected and resultant complications
  • Hospice
    • Treatment to relieve pain and suffering from progressively fatal complications
There is no known prevention for amyloidosis.
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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