Living with amyloidosis overview

Overview

Amyloidosis is a rare condition in which abnormal proteins, called amyloids, build up in your organs and tissues. This buildup can stop organs from working properly. It can affect the heart, kidneys, liver, nerves, and digestive system.

No, amyloidosis is rare. Experts estimate that only about 1 to 5 people out of 100,000 are diagnosed each year.

Amyloidosis can affect anyone, but it is more common in older adults, particularly men over 60. Some forms are hereditary and can run in families.

Symptoms

Common symptoms

• Unexplained fatigue and weakness
• Swelling in your ankles, legs, or belly
• Shortness of breath or chest discomfort
• Numbness, tingling, or pain in your hands and feet
• Unexplained weight loss
• An enlarged tongue, especially if you have a type called AL amyloidosis

Causes

Main causes

• The most common type (AL amyloidosis) is caused by abnormal antibody-producing cells in the bone marrow making too much light-chain protein, which then forms amyloid.
• Another type (AA amyloidosis) can occur after long-term inflammation from diseases like rheumatoid arthritis or chronic infections.
• A hereditary type happens when a faulty gene causes the liver to make an abnormal protein that forms amyloid.

Risk factors

• Age over 60, especially men
• A family history of hereditary amyloidosis
• Long-term inflammatory conditions, such as rheumatoid arthritis or inflammatory bowel disease
• Long-term kidney dialysis treatment

When to see a doctor

See a doctor urgently if:

• If you have sudden shortness of breath, chest pain, fainting, or new weakness, seek emergency care immediately.
• If you notice a sudden change in how much urine you pass or have confusion, get medical help the same day.

Book a routine appointment if:

• If you have ongoing fatigue, weight loss, swelling, or numbness that does not go away, make an appointment with your doctor.
• If you have an existing condition that increases your risk, ask your doctor if testing for amyloidosis is appropriate.

Diagnosis

To diagnose amyloidosis, your doctor will ask about your symptoms, do a physical exam, and order tests. The only way to confirm it is to find amyloid deposits in a tissue sample, usually from a biopsy.

Tests that may be done

• Blood tests to check organ function and look for abnormal proteins
• Urine tests to detect protein in the urine
• Biopsy (taking a small tissue sample, often from skin, belly fat, or an affected organ)
• Imaging scans such as echocardiogram or MRI to check heart function

What to expect at your appointment

A diagnosis of amyloidosis can take time. Your doctor may send you to a specialist, such as a cardiologist, kidney doctor, or haematologist (a blood specialist). It may involve several appointments and tests to pinpoint the type and plan treatment.

Treatment

There is no single cure for amyloidosis, but many treatments can slow or stop the buildup of abnormal protein, reduce symptoms, and protect your organs. The best plan depends on the type of amyloidosis and which organs are affected.

Self-care at home

• Follow your doctor's advice for managing fluid intake if you have heart or kidney problems
• Get support for eating well to avoid unintended weight loss
• Wear compression stockings or raise your legs if told to, to help with swelling
• Let your care team know about any new symptoms right away

Medical treatments

Medical treatments may include medicines that target the abnormal cells making the protein, therapies to reduce inflammation, or medicines to help your heart or kidneys work better. In some types of amyloidosis, a stem cell transplant may be an option. Your specialist team will explain the risks and benefits of each option for your situation. Always ask questions if anything is unclear.

When is surgery considered?

Surgery is rarely the main treatment for amyloidosis. In some people with hereditary amyloidosis, a liver transplant may be considered because the abnormal protein is made in the liver. Other procedures may be needed to treat complications, such as inserting a pacemaker if the heart's electrical system is affected.

Living with this condition

Living with amyloidosis can be challenging, but many people manage it for years with a good support network. Work with your healthcare team to manage symptoms, and keep up with your regular appointments. It is okay to ask for help with daily tasks when you need it.

Lifestyle tips

• Keep a diary of your symptoms to share with your doctors
• Get enough rest and pace your activities to avoid becoming overtired
• Stay connected with family and friends
• Ask about physical therapy or rehabilitation to help you stay strong

Diet and exercise

Eat a balanced diet with plenty of protein if your doctor advises it, and avoid too much salt if you have fluid buildup. Gentle activity, such as walking, can help maintain muscle strength, but always check with your doctor about what is safe for you, especially if your heart is affected.

Mental health and emotional wellbeing

A diagnosis like amyloidosis can bring worry, sadness, and stress. It is normal to feel this way. Talk to your doctor about your feelings, and consider counselling or joining a support group. If you ever feel overwhelmed or have thoughts of harming yourself, reach out to a mental health crisis line immediately.

Prevention

Most types of amyloidosis cannot be prevented because they are linked to changes in your own cells or genes. However, treating the underlying inflammatory condition may help prevent the AA type. If you have a family history, genetic counselling can help you understand your risk.

Vaccines

It is important to stay up to date on recommended vaccines, such as flu and pneumonia vaccines, because infections can make your condition worse. Ask your doctor or pharmacist which vaccines are right for you.

Screening programmes

Screening for amyloidosis is generally not offered to the public. If you have symptoms or a strong family history, your doctor may recommend regular checks for early signs of organ involvement.

Complications

If left untreated

• Progressive kidney damage that may lead to kidney failure
• Heart failure, which means the heart can't pump blood well enough
• Nerve damage that causes weakness, pain, or trouble with digestion
• An increased risk of infections because of organ dysfunction or treatment

Long-term outlook

The outlook for amyloidosis varies widely. Some types respond very well to treatment, and many people live active lives for many years. Early diagnosis and specialist care make a big difference. Even with the challenges, there is always support and reason to hope.

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