Amyloidosis

Overview

Amyloidosis is a rare disease that happens when a protein called amyloid builds up in your organs and tissues. Over time, this buildup can stop organs such as your heart, kidneys, liver, and nerves from working as they should.

No, amyloidosis is uncommon. Around 4 or 5 people per million are diagnosed each year. Many cases are not picked up until later because the symptoms are vague.

Amyloidosis is most often seen in adults over 50, and it affects men slightly more than women. Some rare inherited forms can run in families and may appear earlier in life.

Symptoms

Common symptoms

• Tiredness and weakness that is not relieved by rest
• Swelling in the ankles, legs, or around the eyes
• Unexplained weight loss
• Shortness of breath
• Numbness, tingling, or a burning feeling in the hands or feet
• An enlarged tongue that makes it hard to swallow or speak
• Skin changes like easy bruising or a waxy appearance
• An irregular or uneven heartbeat
• Digestive problems such as diarrhea, constipation, or feeling full quickly

Symptoms in children

• Amyloidosis is extremely rare in children.
• For inherited types, symptoms might first appear in the teenage years, such as unusual tiredness, swelling, or numbness in the hands and feet.

Symptoms in older adults

• Older adults may dismiss symptoms as normal aging.
• Look for increasing breathlessness, leg or belly swelling, and exhaustion that does not improve.
• Nerve problems like numbness, balance issues, or changes in walking can also be signs.

Causes

Main causes

• In the most common type (called AL), the bone marrow produces abnormal proteins that clump together to make amyloid.
• In the inherited type, a faulty gene leads to an abnormal protein, often made by the liver, that forms amyloid.
• Some long-term medical conditions, such as chronic inflammation or long-term kidney dialysis, can also cause amyloid to build up.

Risk factors

• Being over 50 years old
• Being male
• Having a close family member with an inherited amyloidosis
• Having an ongoing inflammatory condition, such as rheumatoid arthritis
• Receiving kidney dialysis for many years

When to see a doctor

See a doctor urgently if:

• If you have chest pain, fainting, or severe breathing difficulty, call your local emergency number right away.
• If you develop sudden weakness or numbness on one side of your body, get urgent medical help.
• If you have new or worsening leg swelling and breathlessness, contact a doctor the same day.

Book a routine appointment if:

• Make an appointment if you have ongoing fatigue, swelling, weight loss, or nerve symptoms that don't improve after a few weeks.
• If you have a family history of amyloidosis and you’re worried about your risk, ask your doctor about genetic counseling.

Diagnosis

A diagnosis of amyloidosis requires a biopsy, where a doctor takes a tiny piece of tissue to look at under a microscope. Before that, your doctor will do a physical exam, blood tests, and urine tests, and may refer you to a specialist center for rare diseases.

Tests that may be done

• Blood tests to check your organ function and look for abnormal proteins
• Urine tests to measure protein leaking from the kidneys
• A biopsy, usually from belly fat, bone marrow, or an affected organ
• An echocardiogram or MRI to see how your heart is working
• Genetic testing to look for the inherited form

What to expect at your appointment

This can feel like a long process, because several tests are needed to identify the type of amyloidosis and which organs are affected. Your specialist team will explain each step. Be sure to ask questions if anything is unclear.

Treatment

There is no cure for amyloidosis, but treatment can slow the buildup of amyloid, relieve symptoms, and protect your organs. The exact plan depends on the type of amyloidosis you have, how much it has spread, and your overall health.

Self-care at home

• Attend all your appointments and take your medicines exactly as prescribed.
• Rest when you need to and pace your activities to avoid exhaustion.
• Weigh yourself regularly and bring a record of your weight to appointments.
• Ask your doctor or pharmacist before taking any over-the-counter medicines, including pain relievers.

Medical treatments

Medical therapies for amyloidosis work to stop the abnormal protein from being made and to help clear it from the body. This may involve medicines that target the bone marrow, immunotherapy to calm the immune system, or medicines that stabilize the faulty protein. In some people, a stem cell transplant may be an option. Your specialist team will discuss which approach is right for you and what to expect.

When is surgery considered?

Surgery is not usually the first treatment. It can help with specific problems, such as carpal tunnel syndrome caused by nerve compression, or in rare inherited cases, a liver transplant may be considered because the faulty protein is made in the liver.

Living with this condition

Living with amyloidosis asks you to pay attention to your body’s signals. Plan your days with rest built in, ask family or friends for help when you need it, and keep a list of your medicines. Let your care team know about any new symptoms.

Lifestyle tips

• If you smoke, take steps to stop. Your doctor can support you.
• Manage your fluid intake if you have kidney or heart problems—ask your doctor how much to drink.
• Avoid heavy alcohol, which can strain your liver and heart.
• Find small ways to stay active, such as short walks or chair exercises, if you feel able.

Diet and exercise

A balanced diet with vegetables, fruits, whole grains, and lean protein gives your body energy. If your heart or kidneys are affected, your doctor or a dietitian may suggest lower salt or lower protein choices. Try to remain gently active, but always tell your care team before starting any new exercise program.

Mental health and emotional wellbeing

A diagnosis like amyloidosis can bring anxiety, sadness, or fear. These feelings are completely normal. Please talk about them with your doctor or a counselor. If you ever feel that you might harm yourself, this is a crisis—contact your local crisis support line or go to the nearest emergency department right away. Your emotional health matters just as much as your physical health.

Prevention

Most cases of amyloidosis cannot be prevented, because they are not linked to a specific lifestyle choice. If you have a family history of the inherited type, genetic counseling can help you understand your risk and make informed decisions.

Vaccines

There is no vaccine to prevent amyloidosis. Staying up to date with recommended vaccines, such as for the flu, pneumonia, and COVID-19, helps protect your body from infections that could put extra strain on your organs.

Screening programmes

For people with a family history of inherited amyloidosis, genetic testing can show whether they carry the faulty gene. There is no routine screening for the general population.

Complications

If left untreated

• Heart failure, when amyloid weakens the heart muscle
• Kidney failure, when amyloid damages the kidneys
• Nerve damage that causes pain, numbness, or weakness
• Digestive problems that make it hard to eat or absorb nutrients
• Life-threatening damage to multiple organs over time

Long-term outlook

The outlook for amyloidosis has improved significantly thanks to earlier diagnosis and better treatments. Some people stay stable for many years and lead full lives. The outcome depends on the type of amyloidosis, the organs involved, and how quickly treatment starts. Your team will do everything they can to help you live well.

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