Recognising Early Signs of Amyloidosis

Understanding your health is important for living a long and active life. Sometimes, the body gives small signs that are easy to ignore. Some health conditions start quietly, with mild symptoms that don’t seem serious at first. One such condition is amyloidosis, a rare disease where a protein called amyloid builds up in the organs. Over time, this can affect how the organs work and may lead to serious problems if not treated.

The early symptoms are often unclear and can be confused with common health issues, so many people don’t notice them in time. However, spotting these signs early can help with better treatment. In this blog, we will explore the different forms of this condition, amyloidosis symptoms to watch for, and how it is diagnosed and managed.

What is Amyloidosis?

Amyloidosis is a group of rare diseases in which an abnormal protein called amyloid builds up in the body. Normally, proteins have a specific shape that allows them to function properly. In this condition, the proteins fold incorrectly and cannot break down easily. As a result, they stick together and form deposits in different tissues.

Over time, these deposits accumulate in organs such as the heart, kidneys, and liver, affecting their normal function. As the buildup increases, it puts pressure on healthy cells and interferes with how the organs work, such as making the heart stiff or reducing the kidneys’ ability to filter blood. Because it can affect multiple parts of the body, amyloidosis is often considered a systemic condition.

What are the Types of Amyloidosis?

Amyloidosis includes different types, each caused by a specific protein. Identifying the exact type is important because treatment can vary for each one.

AL Amyloidosis

This is the most common type and was earlier known as primary amyloidosis. It occurs when plasma cells in the bone marrow produce abnormal light chains, which misfold and form amyloid deposits. These deposits often build up in organs such as the heart, kidneys, and nervous system, affecting how they function. This type is usually treated with therapies similar to those used for certain blood cancers.

AA amyloidosis

AA amyloidosis, also called secondary amyloidosis, develops due to long-term inflammation in the body. In such cases, the body produces a protein called Serum Amyloid A, which can gradually turn into amyloid deposits. Conditions like rheumatoid arthritis or inflammatory bowel disease are common causes. This type mainly affects the kidneys, and treating the underlying condition can help slow its progression.

ATTR amyloidosis

This type involves a protein called transthyretin, which is produced by the liver. It has two forms: hereditary and age-related. The hereditary form is passed down through families due to a gene change, while the age-related form develops gradually, especially in older adults. This type mainly affects the heart and the nerves, particularly in the hands and feet.

What are the Symptoms of Amyloidosis?

Amyloidosis can affect multiple organs, so its symptoms are often varied and may develop gradually. Recognising these signs early can help in timely diagnosis and care.

• Severe fatigue that does not improve with rest.
• Shortness of breath during light physical activity.
• Swelling in the ankles and legs.
• Numbness or a tingling sensation in the hands and feet.
• A feeling of fullness in the stomach after eating very little.
• Significant weight loss without a change in diet.
• An enlarged tongue that may have ripples along the edges.
• Purple patches or easy bruising around the eyes.
• Changes in the colour of the skin or skin thickening.
• Irregular heartbeat or palpitations.
• Diarrhoea or constipation that lasts for a long time.

Causes and Risk Factors of Amyloidosis

Amyloidosis happens due to problems in how the body makes and handles proteins. It is not an infection and cannot spread from one person to another.

Genetic Factors

Some people inherit changes in their genes that cause the body to produce unstable proteins. This is common in ATTR amyloidosis. These gene changes can be passed from parents to children. Not everyone with the gene develops the disease, but the risk is higher.

Underlying Conditions

In many cases, amyloidosis develops due to other health conditions. Long-term infections like tuberculosis or inflammatory diseases such as lupus can increase the risk. Certain bone marrow disorders can also lead to the production of abnormal proteins, raising the chances of AL amyloidosis.

Risk Factors

While anyone can develop amyloidosis, some people have a higher risk due to certain factors. Doctors often consider these when identifying and diagnosing the condition.

• Age: Most people diagnosed are between 60 and 70 years old
• Sex: Men are more likely to develop this condition than women
• Race: Some genetic types are more common in people of African descent
• Other conditions: Long-term inflammatory diseases increase the risk of AA amyloidosis. Around 12% to 15% of people with AL amyloidosis also have Multiple myeloma
• Long-term dialysis: People on kidney dialysis for many years may develop protein buildup in the joints
• Family history: Having a close relative with a hereditary form increases the risk

What are the Complications of Amyloidosis?

If amyloid builds up over time, it can damage organs and affect how they work. Early detection is important to prevent serious complications.

Heart

Amyloid can make the heart walls thick and stiff. This makes it harder for the heart to fill and pump blood properly, leading to heart failure. It can also affect the heart’s rhythm, causing irregular heartbeats, fainting, or even sudden cardiac arrest.

Kidneys

Amyloid deposits can damage the kidneys’ filtering system. This may cause protein to leak into the urine, often seen as foamy urine. Over time, the kidneys may stop working, leading to the need for dialysis or a transplant.

Nerves

Amyloid can damage the nerves and disrupt signals between the brain and body. This can cause numbness, tingling, or pain, especially in the hands and feet. It may also affect blood pressure control, leading to dizziness and a higher risk of falls.

How is Amyloidosis Diagnosed?

Diagnosing amyloidosis can take time because its symptoms often look like more common conditions. Doctors usually begin with basic tests and move step by step to more specific ones to confirm the disease.

Blood and urine tests

These are usually the first tests done. Doctors check for abnormal proteins in the blood and urine. In some cases, a test called the serum free light chain assay is used to measure certain proteins. High levels may indicate a problem with how proteins are being produced in the body.

Echocardiogram

If there are symptoms related to the heart, doctors may perform an ultrasound of the heart. This test helps them check the size, thickness, and function of the heart. While it cannot confirm amyloidosis on its own, it can show signs that suggest the condition.

Biopsy

A biopsy is the most reliable way to diagnose amyloidosis. In this test, a small sample of tissue is taken from the body, such as from fat, the kidney, or another organ. The sample is then examined under a microscope using a special dye. If amyloid is present, it shows a clear and distinct pattern.

Bone marrow test

Doctors may also examine the bone marrow, especially if they suspect certain types of amyloidosis. A small sample is taken using a needle to check if the cells are producing abnormal proteins. This helps identify the source of the problem.

Stages of Amyloidosis

Staging helps doctors understand how advanced the disease is and plan the right treatment. It is usually based on blood tests that show how much the heart and other organs are affected.

• Stage 1: This is the early stage, with low levels of stress markers and minimal organ impact
• Stage 2: At this stage, one marker is higher than normal, showing moderate protein buildup
• Stage 3: Multiple markers are high, and organs begin to have difficulty functioning properly
• Stage 4: This is the most advanced stage, with severe organ involvement and very high levels of markers in the blood

How is Amyloidosis Treated?

No cure completely removes amyloid from the body, but treatments can stop new deposits from forming and protect your organs. The goal is to manage the disease and improve the quality of life.

Chemotherapy

This is the main treatment for AL amyloidosis. It targets abnormal plasma cells in the bone marrow, stopping them from producing faulty proteins. This prevents new amyloid deposits, and over time, the body may slowly clear some existing deposits.

Targeted Therapy

Newer medicines focus on stabilising proteins. For ATTR amyloidosis, some drugs prevent the transthyretin protein from misfolding, while others reduce its production in the liver. These treatments have improved outcomes, especially for hereditary cases.

Organ Transplant

In cases where one organ is severely damaged, a transplant may be an option, commonly for the heart or kidneys. However, the underlying cause must also be treated, or the new organ could be affected by amyloid over time.

Living with Amyloidosis

A diagnosis of amyloidosis affects daily life, so it’s important to take an active role in your care. Focus on physical health by eating nutritious meals, following a low-salt diet to manage fluid buildup, and doing gentle exercise like walking or swimming to keep circulation healthy.

Mental health is just as important. Living with a chronic illness can be emotionally challenging, so consider joining support groups or talking to others with amyloidosis. Connecting with people who understand fatigue and uncertainty can make coping easier.

Wrapping Up

Amyloidosis is a complex and rare condition, but understanding its types, symptoms, causes, and treatments can help you take charge of your health. Early detection and timely care are key to managing the disease and protecting your organs. By staying informed and monitoring changes in your body, you can work closely with your healthcare team to improve your quality of life.

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FAQs

1. What are the early symptoms of amyloidosis?

Early signs include fatigue, swelling in the legs, shortness of breath, weight loss, and tingling in the hands or feet.

2. Is amyloidosis life-threatening?

It can become serious if not treated, especially when vital organs like the heart or kidneys are affected.

3. How rare is amyloidosis?

Amyloidosis is considered a rare disease, which is why it is often misdiagnosed or detected late.

4. Can amyloidosis be mistaken for other conditions?

Yes, its symptoms often resemble common conditions like heart disease, kidney problems, or nerve disorders.