Amyloidosis

Amyloidosis Description, Causes and Risk Factors: Amyloidosis is a disease that occurs when substances called amyloid proteins build up in your organs. Amyloid is an abnormal protein usually produced by cells in your bone marrow that can be deposited in any tissue or organ. Amyloidosis can affect different organs in different people, and there are different types of amyloid. Amyloidosis frequently affects the heart, kidneys, liver, spleen, nervous system and gastrointestinal tract. Amyloidosis occurs when abnormal proteins build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should. There are three main types of amyloidosis: Amyloidosis Primary - with no known cause.
  • Secondary - caused by another disease, including some types of cancer.
  • Hereditary amyloidosis is rare. It is a specific type of amyloidosis that can be passed down from generation to generation in a family. It may cause peripheral sensory and motor neuropathy problems (issues relating to the central nervous system), carpal tunnel syndrome, and eye abnormalities. The most common subtypes involve the transthyretin (TTR) protein.
Amyloidosis is caused by the misfolding and build-up of a protein called light chain, which is produced by abnormal white blood cells in the bone marrow. The abnormal bone marrow cells are usually benign (non-cancerous), but are malignant in a proportion of cases (in multiple myeloma, cancer of the bone marrow). Amyloidosis is sometimes referred to as 'light chain amyloidosis.' The abnormal light chain protein is typically deposited in the heart, kidneys, nerves or gut, or a combination of these. Amyloidosis testSymptoms: Symptoms may include: Fatigue.
  • Weight loss.
  • Fluid retention (edema).
  • Shortness of breath.
  • Lightheadedness.
  • Numbness or a tingling feeling in the hands and feet.
  • Hoarseness.
  • Carpal tunnel syndrome (compression of the nerve in your wrist).
  • Blood spots on the skin.
  • An enlarged tongue - sometimes with blood spots, plaques and blisters.
Diagnosis: The diagnosis can be confirmed by taking a biopsy (tissue sample) of the affected part of the body, and examining this under a microscope in the laboratory, using special stains for amyloid proteins. The type of biopsy will depend on which organs are affected. In some patients in whom amyloidosis is suspected, a biopsy of tummy fat or a biopsy from the gut (taken during an endoscopy) may give a positive result. Amyloidosis is diagnosed using a number of tests including: General tests - include blood and urine tests.
  • Bone marrow biopsy - a small tag of bone marrow is removed and examined for abnormalities.
  • Tissue biopsy - a small tag of abdominal fat or rectal tissue is removed with a slender needle and examined in a laboratory.
Treatment: The aims of treatment are to prevent further deposits of amyloid proteins and ease the symptoms. Treatment options depend on the form of amyloidosis, what organs are affected and the associated symptoms. Treatment may include: Adequate rest.
  • Treatment for any underlying disorder such as rheumatoid arthritis.
  • Drugs to slow amyloid activity.
  • A special diet tailored to your needs - for example, a person with affected kidneys will benefit from a low-salt diet.
  • Dialysis, if the kidneys are affected.
  • Drugs to stabilize the heartbeat, if the heart is affected.
  • Transplants of affected organs may be considered.
  • Current trials include the use of particular chemotherapy medications and bone marrow transplants.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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