Amyloidosis

1 What is Amyloidosis?

Amyloidosis refers to a group of diseases caused by the accumulation of the protein amyloid in different organs and tissues.

Amyloid protein is produced by the plasma cells in bone marrow. This abnormal protein is deposited in and around tissues, nerves and organs.

Buildup of amyloid protein affects the structure and function of the tissue and organ. The pattern of deposit varies with individual.

Symptoms of amyloidosis result from abnormal functioning of the organ or tissue with the protein buildup.

Diagnosis of amyloidosis is based on the biopsy of the tissue. Severe form of amyloidosis is potentially life-threatening due to multiple organ failure.

Treatment depends on the type of amyloidosis and focuses on treating the underlying condition and controlling production of amyloid protein. 

2 Symptoms

Symptoms of amyloidosis depend on the organ affected by the accumulation of abnormal protein. In most of the cases symptoms appear only after the condition has reached advanced stage.

Some of the general symptoms of amyloidosis include

Amyloid deposits in the heart wall makes it stiff and affect the heart rhythm. Heart amyloidosis is characterized by

Protein buildup in kidneys affect its functioning. It results in accumulation of fluid and toxins, leading to kidney failure. Symptoms of kidney amyloidosis are

  • Swelling of feet and ankles
  • Swelling around the eyes
  • Increased levels of protein in urine

Accumulation of protein in the gastrointestinal tract leads to gastrointestinal amyloidosis. It results in indigestion and is characterized by lack of appetite, diarrhea, nausea, stomach pain, and loss of weight.

Amyloid deposits in liver lead to enlargement of the organ, fluid buildup, and abnormalities in liver function tests.

Amyloid deposits in nerves result in amyloid neuropathy characterized by

  • Difficulty in balancing
  • Problems in controlling bladder and bowel movement
  • Excessive sweating
  • Tingling
  • Weakness
  • Light-headedness

3 Causes

Amyloidosis is caused by the accumulation of abnormal protein amyloid in and around tissues and organs.

There are different types of amyloidosis, and the cause depends on the specific type of amyloidosis.

  • AL amyloidosis – also known as primary or immunoglobulin light chain amyloidosis. It is caused by amyloid light chains (AL), a kind of protein produced by the bone marrow that are hard to be broken. These protein are normally deposited around kidney, liver, heart, nerves, and intestines.
  • AA amyloidosis – it was earlier known as secondary amyloidosis and is associated with chronic inflammatory conditions like rheumatoid arthritis and inflammatory bowel disease. AA stands for amyloid protein A that accumulates around the tissues. It mostly affects kidneys, liver, and adrenal glands.
  • Familial amyloidosis – or hereditary amyloidosis is a rare form of amyloidosis that runs in families. The abnormal protein accumulates in liver, nerves, heart, and kidneys. It is caused by the buildup of abnormal protein amyloid transthyretin. It is commonly seen among African-Americans.
  • Dialysis-related amyloidosis – it is commonly seen in people who have been on dialysis for several years. It is caused by the buildup of beta-2 microglobulin protein in blood and most commonly affects joints, bones, and tendons. 

Deposits may also happen in specific organs like skin, resulting in different symptoms.
The major risk factors of amyloidosis are

  • age,
  • gender,
  • other medical conditions,
  • family history,
  • and dialysis.

It is most commonly seen in men above the age of 50.

4 Making a Diagnosis

Symptoms of amyloidosis resemble that of many other medical conditions, making diagnosis hard.

A thorough physical examination and evaluation of medical history are the initial steps in diagnosis.

Laboratory tests are suggested to look for the abnormal protein in blood and urine.

Thyroid, kidney, and liver function tests are also useful.

Tissue biopsy aids in checking for protein buildup in tissues.

Imaging techniques help to visualize the extent of damage to the organ involved. Echocardiogram is used to assess the functioning of heart. 

5 Treatment

There is no definitive cure for amyloidosis, but treatment strategies help to alleviate the signs and symptoms of protein buildup.

Timely treatment also helps to limit the production of abnormal proteins. Treatment methods depend on the type of amyloidosis

  • Chemotherapy and stem cell transplant are the treatment options for AL amyloidosis. Chemotherapy limits the growth of cells that produce the abnormal protein. Patients with early stages of amyloidosis benefit from peripheral blood stem cell transplant. In this procedure stem cells are collected from the peripheral blood. These stem cells are then reintroduced into the patient after high-dose chemotherapy.
  • Anti-inflammatory medications are suggested to control the underlying conditions that result in AA amyloidosis. 
  • Liver transplant is the option for treating hereditary amyloidosis as the abnormal proteins in the condition are produced in liver. 
  • Kidney transplant or changing the type of dialysis helps to control dialysis-related amyloidosis. 
  • Medications are suggested to control symptoms like pain and fluid retention. Pain killers, diuretics, and blood thinning medications are commonly recommended.

6 Prevention

There is no standard prevention method for amyloidosis, as the actual cause of the condition is not known.

Preventing inflammatory diseases like rheumatoid arthritis helps to prevent secondary amyloidosis. 

7 Alternative and Homeopathic Remedies

A few alternative and homeopathic remedies exist for amyloidosis.

Natural remedies help to reduce the progression of amyloidosis.

Antioxidants like lipoic acid, carnosine, acetyl-l-carnitine, and vitamins C and E are suggested to control protein buildup. 

8 Lifestyle and Coping

There are different ways to adapt your lifestyle in coping with amyloidosis.

Having a balanced diet helps to improve energy levels of the patient.

Low-salt diet is usually recommended to control fluid buildup. Avoiding strenuous activities prevents shortness of breath.

Having a support group helps to discuss feelings and experiences. Supportive family and friends are equally important in coping with the disease.

Framing achievable goals and working towards it gives ample confidence. 

9 Risk and Complications

Risk and Complication of amyloidosis depends on the organ affected by protein buildup.

It may lead to kidney failure, shortness of breath, change in heart rhythm, pain and numbness of fingers, sudden drop of blood pressure, and fainting. 

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