What is Amyloidosis

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Anupama Nair



Have you heard of the disease Amyloidosis? This deadly disease became famous when it was confirmed that Parvez Musharraf, the ex-president pf Pakistan was diagnosed with it. What is Amyloidosis? “Amyloidosis is a rare disease that occurs when an abnormal protein, called amyloid, builds up in one’s organs, affecting their shape and functioning.

Amyloid deposits can be deposited in the heart, brain, kidneys, spleen and other parts of the body, leading to life-threatening conditions like an organ failure. Amyloid is rarely found in the body, but can be formed from several different types of proteins. Many varieties of Amyloidosis occur in association with other diseases. These types might be treated with proper diagnosis of the underlying disease. Many varieties of Amyloidosis may lead to life-threatening organ failure. Amyloidosis may be secondary to a different health condition or can develop as a primary condition as well. Sometimes, it is due to a mutation in a gene, however the cause of Amyloidosis is still not known.

Many types of proteins can lead to amyloid deposits, but only a very few lead to major health problems. The type of protein and where it is collected convey the type of Amyloidosis. Amyloid deposits may be collected throughout your body or in just one area. It has been discovered that while some varieties are hereditary, others are caused by external factors, like inflammatory diseases or long-term dialysis.

There are also different types of Amyloidosis that are prevalent:

Light-chain (AL) Amyloidosis

This is the most common type which can affect the kidneys, spleen, heart, and other organs. People suffering from multiple myeloma or a bone marrow illness are more likely to have AL amyloidosis. It begins with plasma cells within the bone marrow. Plasma cells form antibodies with both heavy-chain and light-chain proteins. If the plasma cells undergo abnormal changes, they produce excess light chain proteins that can end up in the bloodstream. These damaged protein can accumulate in the body’s tissues and damage vital organs such as the heart.

AA Amyloidosis or Secondary Amyloidosis

AA Amyloidosis was previously known as secondary Amyloidosis. This condition is the result of another chronic infections or inflammatory disease, such as rheumatoid arthritis, Crohn’s disease, or ulcerative colitis. It mostly affects one’s kidneys, digestive tract, liver, and heart. AA is the amyloid type A protein that causes it.

Dialysis-related amyloidosis

This is more common in older adults and people who have been on dialysis for more than 5 years and is caused by deposits of beta-2 micro-globulin that build up in the blood. Deposits can build up in many different tissues, but it most commonly affects bones, joints, and tendons.

Transthyretin amyloidosis

This disease can be inherited from a family member and is hence commonly referred to as ‘familial Amyloidosis’. ‘Transthyretin’ is a kind of protein that is also known as ‘pre-albumin’ that is made in the liver. It often affects the liver, nerves, heart, and kidneys. Many genetic defects are linked to a higher chance of amyloid disease. Symptoms of Amyloidosis are often subtle and can differ greatly depending on where the Amyloid protein is being made in the body. While Amyloidosis progresses, the deposits of amyloid can harm the heart, liver, spleen, kidneys, digestive tract, brain or nerves.

The general  symptoms are:

  • Severe fatigue
  • Loss of weight
  • Swelling in the belly, legs, ankles or feet
  • Numbness, pain or tingling in hands or feet
  • Changes in skin color
  • Purple spots (purpura) or bruised-looking areas of skin around the eyes
  • Bleeding more than usual after an injury
  • Swelling of the tongue
  • Shortness of breath

How is the disease detected? You can go for imaging procedures to take a look at the body’s internal organs, like an echocardiogram, nuclear heart test or liver ultrasound, to diagnose the condition. Once the doctors diagnose Amyloidosis their aim is to treat and to slow the progression, and reduce the impact of symptoms, and to prolong your life. The actual therapy depends on which form of Amyloidosis one has. Chemotherapy is one form of treatment as some medicines are used to kill cancer cells or stop them from growing. It can also stop the growth of cells that are making the abnormal protein in people with AL amyloidosis.

A bone marrow transplant, where the stem cells are removed from one’s blood, or chemotherapy is used to kill the abnormal cells in the bone marrow, are the treatments used. The stem cells are then filled back into your body when they travel to the bone marrow and replace the unhealthy cells destroyed by chemotherapy. Secondary (AA) Amyloidosis is treated by controlling the underlying disorder and with powerful anti-inflammatory medicines which fight inflammation. Transthyretin amyloidosis work by either ‘silencing’ the TTR gene or by stabilizing the TTR protein which prevents further deposit of amyloid plaque in the organs. The medication will depend on an individual’s symptoms and the hereditary form of TTR Amyloidosis.






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