What is Amyloidosis?

As news about his death was doing the rounds on social media on Friday, former Pakistan President General Pervez Musharraf’s (retired) family clarified that he is in a serious condition after his health worsened in the last three weeks.

Explaining his condition, Musharraf’s family, via a statement, said: “He is not on the ventilator. Has been hospitalized for the last 3 weeks due to a complication of his ailment (Amyloidosis). Going through a difficult stage where recovery is not possible and organs are malfunctioning. Pray for ease in his daily living.”

We take a look at what Amyloidosis is, its causes and modes of treatment.

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 build up in the heart, brain, kidneys, splen and other parts of the body, leading to life-threatening conditions like organ failure.

Amyloid isn’t normally found in the body, but can be formed from several different types of proteins. Some varieties of amyloidosis occur in association with other diseases. These types may improve with treatment of the underlying disease. Some 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, but usually, the cause of amyloidosis remains unknown.

What is the cause of the disease?

Many different proteins can lead to amyloid deposits, but only a few lead to major health problems. The type of protein and where it collects tell the type of amyloidosis one has. Amyloid deposits may collect throughout one’s body or in just one area.

Moreover, while some varieties are hereditary, others are caused by outside factors, such as inflammatory diseases or long-term diagnosis.

There are also different amyloidosis that are prevalent:

Light-chain (AL) amyloidosis is the most common type in developed countries which can affect the kidneys, spleen, heart, and other organs. People with conditions such as multiple myeloma or a bone marrow illness are more likely to have AL amyloidosis.

This starts in plasma cells within the bone marrow. Plasma cells create 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 bits can accumulate in the body’s tissues and damage vital organs such as the heart.

Another type is the AA amyloidosis. Previously known as secondary amyloidosis, this condition is the result of another infectious 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 refers to the amyloid type A protein that causes it.

Dialysis-related amyloidosis is more common in older adults and people who have been on diagnosis for more than 5 years. This form of amyloidosis is caused by deposits of beta-2 microglobulin 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 can be inherited from a family member and is hence commonly referred to as familial amyloidosis. Transthyretin is a protein that is also known as prealbumin made in the liver. As such, this often affects the liver, nerves, heart, and kidneys and many genetic defects are linked to a higher chance of amyloid disease.

What are the symptoms?

Symptoms of amyloidosis are often subtle and can vary greatly depending on where the amyloid protein is collecting in the body. As amyloidosis progresses, the deposits of amyloid can harm the heart, liver, splen, kidneys, digestive tract, brain or nerves.

The general signs or symptoms would include:

  • 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

Diagnosis and treatment

One or more imaging procedures to take a look at the body’s internal organs, such as an echocardiogram, nuclear heart test or liver ultrasound, are the normal tests to diagnose the condition.

The goals of amyloidosis treatment are to slow the progression, reduce the impact of symptoms, and prolong life. The actual therapy depends on which form of amyloidosis one has. Chemotherapy is one form of treatment as some medicines used to kill cancer cells or stop them from growing 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, and then chemotherapy is used to kill the abnormal cells in the bone marrow, is another form of treatment. The stem cells are then infused back into one’s body where they travel to the bone marrow and replace the unhealthy cells destroyed by the chemotherapy.

Secondary (AA) amyloidosis is treated by controlling the underlying disorder and with powerful anti-inflammatory medicines which fight inflammation.

The United States Food and Drug Administration has also recently approved multiple medications for transthyretin amyloidosis. These medicines work by either “silencing” the TTR gene or by stabilizing the TTR protein. As a result, further amyloid plaque should not deposit in the organs. The medication for one will depend on one’s symptoms and the hereditary form of TTR amyloidosis.

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