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Do you know that your body can produce an abnormal protein?

Do you know that your body can produce an abnormal protein?

February 22, 2017 - alynchi

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Amyloidosis is a rare but serious disease caused by accumulation of amyloid fibrils (an abnormal protein that is usually produced in the bone marrow) found within the extracellular space in the tissues of the body.

Amyloidosis can affect different organs in different people; it frequently affects the heart, kidneys, liver, spleen, nervous system and digestive tract.

According to Sipe et al (2014) about 30 different proteins are known to form amyloid fibrils in humans, and amyloidosis are named and classified according to the identity of the respective fibril protein. Some common types of amyloidosis include:

  1. AL Amyloidosis (Primary amyloidosis): This is the most common form that occurs when the bone marrow produces too much of certain fragments of antibody proteins, which build up in the bloodstream and can deposit in body tissues.
  2. AA Amyloidosis (Secondary amyloidosis): This develops along with a chronic infectious or inflammatory disease, such as tuberculosis or rheumatoid arthritis.
  • Hereditary Amyloidosis (Familial amyloidosis): This is a genetic form passed down in families that often affects nerves and kidneys.

Signs and symptoms

Signs and symptoms of amyloidosis are not usually experienced until the condition is advanced, and they depend on which organs are affected. Some common signs and symptoms may include:

  1. Swelling in the ankles and legs
  2. Severe fatigue and weakness
  3. Shortness of breath
  4. Numbness, tingling or pain in the hands or feet, especially pain in the wrist (carpal tunnel syndrome)
  5. Diarrhea, possibly with blood, or constipation
  6. Feeling full quickly when eating, and significant weight loss
  7. An enlarged tongue
  8. Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
  9. An irregular heartbeat
  10. Difficulty swallowing

Test and Diagnosis

Signs and symptoms of amyloidosis can mimic those of more-common diseases. However, diagnosis usually starts with a thorough medical history and physical exam. The following tests can be carried out:

  1. Laboratory tests with blood and urine to analyze for abnormal protein that can indicate amyloidosis.
  2. Biopsy is done by taking a sample tissue sample to check for signs of amyloidosis. The biopsy may be taken from the patients’ abdominal fat, bone marrow, or an organ such as liver or kidney. Tissue analysis can help determine the type of amyloid deposit.
  3. Imaging tests is carried by taking Images of the organs affected by amyloidosis to help establish the extent of the disease. Echocardiogram may also be used to assess the size and functioning of the heart. Other imaging tests can evaluate the extent of amyloidosis in the liver or spleen.

Preventive measures for amyloidosis

  1. Those who have hereditary amyloidosis should consider going to genetic counseling to learn about the risks of passing the condition to their children.
  2. Studies suggest that the following dietary choices such as limiting meat consumption, taking fish oils supplement and vitamin c may help prevent amyloidosis in people who are at high risk, or help slow the disease once it has developed

Treatment options for amyloidosis

Treatment of amyloidosis usually involves decreasing the protein that forms the amyloids, which is carried out depending on the organ affected. The treatment options include:

  1. Use of drug therapies or chemotherapy such as corticoisteroid and alkeran.
  2. Surgical and other procedures such as;
  3. Dialysis, if the kidneys are failing
  4. Kidney, liver, heart, or bone marrow transplant
  • Spleen removal
  1. Pacemaker implantation to control heart rhythm
  2. Complementary and alternative suppliments such as; nutrition and herbal supplements.

 

Compiled by: Victoria Haruna, BSc. (Biochem), MPH (Health Promotion and education)

 

Reference

  1. Sipe, Jean D.; Benson, Merrill D.; Buxbaum, Joel N.; Ikeda, Shu-ichi; Merlini, Giampaolo; Saraiva, Maria J. M.; Westermark, Per (2014-12-01). “Nomenclature 2014: Amyloid fibril proteins and clinical classification of the amyloidosis”. Amyloid. 21 (4):22124. Doi:10.3109/13506129.2014.964858. ISSN1744-2818. PMID 25263598.
  2. Pepys MB and Hawkins PN, Amyloidosis. (2012). “Oxford Textbook of Medicine” (5th). Edited by Warrel DA, Cox TM, Firth JD. Doi:10.1093/med/9780199204854.001.1/med-9780199204854.
  3. Steven D. Ehrlich, Amyloidosis. (2014). University of Maryland medical center. Review provided by VeriMed Healthcare Network and A.D.A.M. Editorial team.
  4. Robert O Holmes and Herbert S Diamond; Definition of Amyloid and Amyloidosis. (2017). Medscape.
  5. Mayo Clinic; Amyloidosis: Lifestyle and home remedies. 2015

alynchi

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