What is Amyloidosis? Facts, Signs and Effects (2022)

If you have never heard of Amyloidosis, you are not alone. The condition is not commonly discussed or diagnosed. When it does occur, however, it can be life-threatening. Amyloidosis usually has a genetic component and results from an abnormal protein known as amyloid that builds up in the body instead of being excreted properly.

Amyloidosis can affect any organ in the body, but it most commonly affects the heart, kidneys and liver. It can also impact other areas, such as bones and the central nervous system. If you believe that you might be at risk for this condition, take time to learn more about Amyloidosis and its related risks to take action if necessary.

What is Amyloidosis?

Amyloidosis is a type of disease caused by a buildup of abnormal proteins in your organs and tissues. The abnormal protein can build up in any part of your body, including the heart, kidneys, liver, bones, and even your nerves. There are two types of Amyloidosis: primary Amyloidosis and secondary Amyloidosis.

Primary Amyloidosis is caused by a gene mutation that leads to the production of too much amyloid protein. This disease can happen at any age and affects about one in every 10,000 people.

Secondary Amyloidosis occurs when an abnormal protein builds up because of another disease or condition, such as a chronic infection or a cancerous tumor. Primary Amyloidosis usually leads to more severe symptoms than secondary Amyloidosis. However, the type of Amyloidosis does not necessarily indicate which organs will be affected by the disease.

Types of Amyloidosis

1. Primary Amyloidosis

The most common form of Amyloidosis, this type accounts for 95% of all cases. Primary Amyloidosis is triggered by a genetic mutation that causes the body to produce too much of a particular protein called amyloid. Amyloid is a normal part of the human body, but it is normally broken down and excreted. When people with Amyloidosis have too much amyloid in their bodies, it begins to build up in organs and tissues and can lead to serious health problems.

Amyloidosis can occur at any age, but it is most commonly diagnosed in people who are in their 50s and 60s. Primary Amyloidosis usually leads to more severe symptoms than secondary Amyloidosis.

However, the type of Amyloidosis does not necessarily indicate which organs will be affected by the disease. The abnormal protein can build up in any part of your body, including the heart, kidneys, liver, bones, and nerves.

2. Secondary Amyloidosis

Less common than primary Amyloidosis, secondary Amyloidosis is associated with various underlying conditions, including certain infections and cancers. It is triggered by the production of amyloid proteins in the body that are not produced by the body's cells but rather by immune cells. Amyloidosis associated with underlying conditions is often referred to as secondary Amyloidosis. It is not a separate type of disease but a variety of primary Amyloidosis.

What Causes Amyloidosis?

The precise cause of Amyloidosis is unknown in most cases, but it is generally associated with a genetic mutation. This mutation is believed to lead to an abnormal protein buildup within the body, although the reasons are unclear. Primary Amyloidosis is most commonly diagnosed in patients with the genetic mutation commonly associated with the condition.

According to the Genetics Home Reference, about 1 in every 10,000 people have this mutation, although not everyone with the mutation will develop Amyloidosis. Other genetic mutations can lead to Amyloidosis.

Symptoms of Amyloidosis

The symptoms of Amyloidosis vary depending on which organs are affected by the condition. The most common symptoms are related to the heart, kidneys and liver. Other organs can also be affected, although this is less common. 

Heart – The most common organ affected by Amyloidosis, the heart is usually affected by primary Amyloidosis. Symptoms of Amyloidosis of the heart include chest pain, palpitations, shortness of breath and fatigue. While many conditions can cause these symptoms, they are common symptoms of Amyloidosis in the heart.

Kidneys – The next most common organ affected by Amyloidosis, the kidneys are usually affected by primary Amyloidosis. Symptoms of Amyloidosis of the kidneys can include swelling in the legs and abdominal pain

Liver – Another common organ affected by Amyloidosis, this organ is usually affected by primary Amyloidosis. Liver amyloidosis can cause abdominal pain and swelling or stiffness in the abdomen. 

Other organs – Amyloidosis can also affect other organs in the body, such as the nerves, gastrointestinal tract and thyroid. Symptoms of Amyloidosis in these organs include pain and numbness, nausea, vomiting and abdominal pain.

Risk Factors for Amyloidosis

Anyone can develop Amyloidosis, but it is most commonly diagnosed in people over the age of 50 who have a family history of the condition. In fact, people who have a family history of Amyloidosis are between 10 and 40 times more likely to develop the condition. People of East Asian descent also have a higher risk of developing Amyloidosis. People with another disease affecting their immune system are also at a higher risk of developing Amyloidosis.

Some examples of these conditions include lupus, chronic hepatitis B and C, HIV and rheumatoid arthritis. A doctor will conduct blood tests and imaging tests such as an MRI or CT scan to diagnose Amyloidosis. They will also perform a physical examination of your organs. In certain cases, you may be asked to have a biopsy.

A biopsy is a procedure in which a small tissue sample is removed from your body and examined in a laboratory to diagnose the presence of amyloid.

How to Care for Yourself if You Have Amyloidosis?

There is no cure for Amyloidosis, but doctors can manage the condition's symptoms. If Amyloidosis is detected in its early stages, doctors may recommend lifestyle changes and medications to slow the progression of the disease. Amyloidosis can be life-threatening and can significantly shorten a person's lifespan.

That being said, if it is detected early and treated appropriately, it can be managed, and the prognosis can be positive. While no specific diet will cure Amyloidosis, doctors recommend following a heart-healthy diet that is low in fat and sodium. You should also avoid smoking, drinking and taking certain medications, such as acetaminophen.

Conclusion: Prevention Amyloidosis

Amyloidosis is a rare condition, but it can be life-threatening when it occurs. It is important to seek medical attention if you notice any of the signs or symptoms of Amyloidosis. While there is no cure for Amyloidosis, it can often be managed with lifestyle changes and medications.

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