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Amyloidosis: Types, Causes, Symptoms, Diagnosis, Risk Factors, Treatment

Jun 01, 2023

Amyloidosis Types, Causes, Symptoms, Diagnosis, Risk Factors, Treatment

Amyloidosis is an uncommon illness in which your body's proteins alter or mutate, resulting in twisted clumps of misfolded proteins that accumulate in your organs and tissues. The heart, kidneys, liver, and lungs are just a few of the organs that some amyloidosis types might affect. Others are dispersed all across your body. Organ transplantation, chemotherapy, and targeted medicines are examples of treatments.

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Types of Amyloidosis:

The most prevalent type of amyloidosis is referred to as systemic amyloidosis, which is characterized by aberrant protein deposits throughout the body. By the particular type of amyloidosis protein involved, healthcare professionals classify amyloidosis. The following are the top three forms of amyloidosis:

  • Amyloid light chain (also known as A-light chain or AL): AL affects plasma cells. The typical immune system in your body includes plasma cells. They produce immunoglobulin proteins, which are composed of heavy and light protein chains, as well as antibodies that fight infection. Your plasma cells produce an excessive number of aberrant light chains when you have AL amyloidosis. Light chains misfold and group together to form amyloid fibrils, which are then lodged in your organs. Your heart and kidneys are often affected by AL amyloidosis (also known as cardiac amyloidosis). Additionally, your stomach, big intestine, liver, nerve and skin.
Types of Amyloidosis
  • Serum Amyloid This type of amyloidosis develops when your body produces an excessive amount of serum A protein (AA or SAA). Serum If you have prolonged aberrant inflammation in your body, a protein will accumulate. Rheumatoid arthritis, inflammatory bowel disease, and recurrent infections are among the illnesses that can lead to AA. Alcohol abuse may have an impact on your heart, liver, stomach, and intestines.
  • TRR protein, also known as amyloid transthyretin protein (ATTR): Transthyretin protein, commonly known as TRR, is created in your liver (pronunciation: "trans-thigh-re-tin"). In your blood, this protein transports thyroid hormone and vitamin A. When the transthyretin protein fragments, fibrils are created that lodge in your heart and/or nerves, causing ATTR. An inherited condition is ATTR.

Some of the diseases are listed below along with the type of amyloidosis present in them:

Chronic inflammationAA associated with IL6
CancersAA associated with IL6
Familial Mediterranean FeverAA associated with IL6
Medullary Carcinoma ThyroidAcal (calcitonin)
Systemic Senile AmyloidosisATTR (increased Quantity)
Familial Amyloidotic PolyneuropathyATTR (Mutant)
Alzheimer's Diseases (brain)A beta (Beta plaque)
Hemodialysis (kidney)A beta2 (β2microglobulin)
DMAIAPP (Amyloid islet pancreatic polypeptide)
Multiple MyelomaAL (light chain)

Signs And Symptoms of Amyloidosis

Amyloidosis symptoms and signs can include:

  • Extreme weakness and weariness
  • Breathing difficulty
  • Tingling sensation
  • Swolledn legs and ankles
  • Constipation or possible bloody diarrhea
  • Purplish patches under the eyes and thickening or easy bruising of the skin are examples of skin alterations.

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Risk Factors For Amyloidosis

Amyloidosis risk factors include the following:

  • Age. Most amyloidosis diagnoses are made in patients between the ages of 60 and 70.
  • Sex. Men are more prone to developing amyloidosis.
  • other illnesses. A persistent inflammatory or viral illness raises the likelihood of developing AA amyloidosis.
  • Familial history  Amyloidosis can run in families in some cases.
  • Renal dialysis. Large proteins in the blood cannot usually be removed by dialysis. When receiving dialysis, aberrant proteins may accumulate in the blood and eventually deposit in tissue. Modern dialysis methods reduce the prevalence of this illness.
  • Race. A genetic mutation linked to a kind of amyloidosis that can affect the heart appears to be more common among people of African heritage.

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Diagnosis of Amyloidosis:

Medical professionals may perform a variety of tests, but ultimately they rely on bone marrow aspiration and bone marrow biopsy to pinpoint the mutant protein responsible for particular amyloidosis kinds, such as:

  • Blood tests: Doctors may check your blood for abnormal protein levels.
  • Your urine may be tested by the professionals to check for unusual protein levels.
  • CT scan: This imaging test can be used by healthcare professionals to examine the damage to any afflicted organs.
  • An echocardiogram is a test to evaluate your heart health.
  • By use of certain stains we can analyze amyloidosis. Some of the stains are listed below:
Gross stainLugol iodine (Mahogany brown)
Microscopic stains
Congo red Light microscopy: Salmon pink/Red stains
congo red stain

Polarizing microscopy: Apple Green birefringence
Polarizing microscopy: Apple Green birefringence
Polarizing microscopy shows apple green birefringence  due to Beta pleated sheets which can be detected through  o X-ray crystallography
Thioflavin TUV light
Methyl VioletAmyloid is positive
Crystal VioletAmyloid is positive
PASAmyloid is positive
Electron microscopyElectron microscopy
Non-branching fibrils
Indefinite length
7.5-10 nm diameter
X ray crystallographyBeta pleated sheets (responsible for apple green birefringence)

Treatment of Amyloidosis

Healthcare professionals treat amyloidosis by addressing the underlying cause as well as the symptoms, including organ damage. For instance, chemotherapy is used by medical professionals to eradicate the aberrant plasma cells that lead to AL amyloidosis. The following additional standard therapies for various forms of amyloidosis:

Targeted therapy is a form of medicine that specifically targets the tissues, genes, or proteins that lead to amyloidosis. Angiogenesis inhibitors, monoclonal antibody treatment, and proteasome inhibitors are examples of targeted therapy for amyloidosis.

Transplantation of bone marrow or stem cells: Specialists utilize high-intensity chemotherapy to kill bone marrow harboring defective plasma cells and replace them with healthy plasma cells.

Organ transplantation: To treat some forms of hereditary amyloidosis, healthcare professionals may advise kidney, liver, or heart transplantation.

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