Amyloidosis: Everything You Need to Know

Are you feeling constantly fatigued or experiencing unexplained weight loss? Have you noticed a decline in your cognitive abilities and overall health? If so, it may be time to investigate the possibility of amyloidosis. This rare but serious disease is caused by the buildup of abnormal proteins in your organs and tissues. This causes damage and potentially life-threatening complications. 

In this blog post, we'll cover everything you need to know about amyloidosis - from its symptoms and causes to diagnosis and treatment options - so you can take control of your health and make informed decisions.

What is Amyloidosis?

Amyloidosis is a rare disorder. It occurs when an abnormal protein called amyloid builds up in the body's organs and tissues. Amyloid is an abnormal protein. It is produced by certain cells in the body. It can build up in different organs, such as the heart, kidneys, liver, nervous system, and skin. Over time, amyloidosis can cause these organs to become damaged and stop working properly.

Types of Amyloidosis

AL Amyloidosis (Amyloid Light Chain or Primary Amyloidosis)

AL amyloidosis is a rare progressive disease. It is caused by the buildup of amyloid proteins in organs and tissues. These proteins are produced from an abnormal form of a plasma cell protein called immunoglobulin light chain (LC).

AL amyloidosis can affect many organs. These include the heart, kidneys, liver, nerves and skin. Symptoms may vary depending on which organ or tissue is affected but can include fatigue, weight loss, weakness and swelling.  

AA Amyloidosis (Amyloid A)

AA amyloidosis is also known as secondary amyloidosis or AA amyloidosis. It is a rare condition caused by the accumulation of abnormal protein deposits called amyloid in tissues and organs. It is caused by chronic inflammation, such as rheumatoid arthritis, inflammatory bowel disease, or infection.

Familial Amyloidotic Plyneuropathy

Familial amyloidotic polyneuropathy (FAP) is a rare, inherited disorder. It is characterised by the buildup of abnormal proteins in nerves and other tissues throughout the body. It is caused by mutations in genes that are responsible for producing transthyretin (TTR), a protein normally found in the bloodstream.

Senile Systemic Amyloidosis

Senile systemic amyloidosis is a condition that occurs when abnormal deposits of proteins called amyloids build up in organs and tissues. This leads to organ dysfunction and other health problems. It only occurs in elderly people over the age of 70. 

Symptoms of Amyloidosis

Symptoms of amyloidosis can vary depending on the type and which organs are affected. There are two main types of amyloidosis:

Primary amyloidosis occurs when the proteins that make up amyloid are produced by your body's cells.

Secondary amyloidosis occurs when other diseases or conditions cause your body to produce too many of the proteins that make up amyloid.

Some of the most common symptoms of all types of amyloidosis include:

• Swelling in the ankles, legs, or abdomen

• Shortness of breath

• Feeling very tired

• Unexplained weight loss

• An irregular heartbeat (arrhythmia)

• An enlarged tongue 

• An enlarged liver or spleen 

• Numbness or tingling in the hands or feet 

• Recurrent infections 

• Skin changes such as purpura (bruises) and easy skin bleeding

Causes of Amyloidosis

Amyloidosis is a condition in which there is an abnormal buildup of protein in the body. The protein, called amyloid, can build up in any organ or tissue, but most often affects the heart, kidneys, liver, and nervous system.

Amyloidosis can be caused by several different conditions. These include multiple myeloma, familial Mediterranean fever, and certain infectious diseases. 

Diagnosing Amyloidosis

There are several ways to diagnose amyloidosis. The first step is usually to see your GP if you have any of the symptoms listed above. They will then refer you to a specialist for further tests.

These tests may include:

• Blood Tests - to check for abnormal levels of certain proteins in your blood.

• Urine Tests - to check for abnormal levels of certain proteins in your urine.

• Skin Biopsy - a small sample of skin is taken and examined under a microscope.

• Bone Marrow Biopsy - a small sample of bone marrow is taken and examined under a microscope.

• Liver Biopsy - a small sample of liver tissue is taken and examined under a microscope.

• Kidney Biopsy - a small sample of kidney tissue is taken and examined under a microscope.

Treatment for Amyloidosis

In some cases, treatment may focus on managing the symptoms and slowing the progression of the disease. In other cases, more aggressive treatment may be necessary to target the underlying cause.

The most common treatments for amyloidosis include:

Corticosteroids: These drugs can help reduce inflammation and suppress the immune system.

Immunomodulatory Agents: These drugs can help to modulate the immune system and reduce inflammation.

Plasmapheresis: This is a procedure in which plasma (the liquid portion of blood) is removed from the blood and replaced with a fresh plasma or saline solution. Plasmapheresis can help to remove abnormal proteins from the bloodstream.

Bone Marrow Transplant: This procedure involves replacing damaged bone marrow with healthy bone marrow from a donor. Bone marrow transplants can be very effective at treating certain types of amyloidosis, but they are also very risky and should only be considered as a last resort.

Living with Amyloidosis

If you have amyloidosis, it's important to work with your healthcare team to create a treatment plan that meets your needs. Treatment for amyloidosis may include:

Medications: Drugs called immunomodulators can help reduce inflammation and slow the progression of amyloidosis. Chemotherapy drugs may also be used to treat amyloidosis.

Lifestyle Changes: There are some lifestyle changes you can make to help manage the symptoms of amyloidosis and slow the progression of the disease. These include eating a healthy diet, getting regular exercise, and managing stress levels.

Conclusion

Amyloidosis is a serious condition. It can affect many different parts of the body and must be treated quickly to prevent complications. It is important to recognise early symptoms, get tested

for underlying causes, and begin treatment as soon as possible. 

By understanding amyloidosis, its common symptoms, how it's diagnosed and the available treatments you can become better prepared to manage this disease in its various forms. If you or your loved ones are showcasing symptoms of Amyloidosis, you should seek a doctor's advice for further diagnosis. Metropolis Labs provides home visits for 100+ tests and accurate results via WhatsApp and email for a hassle-free experience.