Amyloidosis overview

Overview

Amyloidosis is a rare condition in which abnormal proteins called amyloid build up in the body’s organs and tissues. Over time, this buildup can stop organs like the heart, kidneys, or liver from working as well as they should.

No, amyloidosis is rare. Experts estimate that it affects about 9 to 14 people per million each year, though it may be underdiagnosed.

Amyloidosis most often affects adults over 60, and some types are more common in men. The type linked to bone marrow problems, called AL amyloidosis, can also occur in younger adults. Certain hereditary forms run in families.

Symptoms

Common symptoms

• Feeling very tired or weak
• Shortness of breath, especially with activity
• Swelling in the ankles, legs, or belly
• Numbness, tingling, or pain in the hands or feet
• Dark bruising around the eyes
• An enlarged tongue that can affect chewing or swallowing
• Unexplained weight loss
• Changes in digestion, such as diarrhea or constipation
• Frothy or swollen-looking urine (which can be a sign of kidney protein loss)

Causes

Main causes

• Amyloidosis happens when the body makes abnormal proteins that clump together and settle in tissues.
• The AL type is linked to abnormal plasma cells in the bone marrow.
• The AA type is linked to long-term inflammation or infection.
• Hereditary types are passed through families due to gene changes.
• The wild-type (or senile) type is related to aging and often affects the heart.

Risk factors

• Being older than 60
• Having a family history of hereditary amyloidosis
• Living with a long-term inflammatory condition, such as rheumatoid arthritis
• Having a bone marrow disorder
• Being on long-term kidney dialysis

When to see a doctor

See a doctor urgently if:

• See a doctor the same day if you have new or worsening swelling, shortness of breath, fainting, or any sign of bleeding or infection.

Book a routine appointment if:

• Make a routine appointment if you have ongoing fatigue, unexplained weight loss, numbness, or changes in your usual health that worry you.

Diagnosis

Doctors diagnose amyloidosis using a combination of blood and urine tests, imaging scans, and often a tissue biopsy. A biopsy involves taking a small sample of tissue, usually from the belly, kidney, heart, or a nerve, to check for amyloid protein. Sometimes amyloidosis is found by chance during a test for another condition.

Tests that may be done

• Blood tests
• Urine tests
• Echocardiogram (an ultrasound of the heart)
• MRI or CT scans
• Biopsy (tissue sample)
• Genetic testing if a hereditary form is suspected

What to expect at your appointment

Getting a diagnosis can take time because symptoms often overlap with other illnesses. Your doctor may refer you to a specialist center. It helps to bring a list of your symptoms and any family history to your appointment.

Treatment

Treatment for amyloidosis depends on the type, which organs are affected, and your overall health. The main goals are to stop the production of abnormal protein, relieve symptoms, and protect organs. Your care is usually managed by a team of specialists.

Self-care at home

• Attend all appointments and keep your care team updated.
• Track any new or worsening symptoms in a notebook.
• Rest when you need it, but try to stay gently active if you feel able.
• Ask family members or friends for help when you need it.

Medical treatments

Medical treatment may include medicines that reduce the activity of the cells making the abnormal protein, treatments for any underlying inflammation, and supportive medicines to manage heart, kidney, or nerve symptoms. In some cases, a stem cell transplant might be considered. Your healthcare team will talk with you about the best plan for your situation.

When is surgery considered?

Surgery is rarely the first treatment for amyloidosis. In some cases, a small device may be placed to help the heart pump, or surgery might be needed to address an enlarged organ, but this depends on each person’s individual circumstances.

Living with this condition

Living with amyloidosis often means adjusting your routines to match your energy levels. Many people benefit from pacing activities and planning rest breaks. If your heart or kidneys are affected, you may need to follow specific lifestyle advice from your specialist.

Lifestyle tips

• Stay connected with friends and family, even if it’s just a phone call.
• Take your medicines exactly as prescribed.
• Keep a symptom diary to share with your care team.
• Ask for support when you feel overwhelmed.

Diet and exercise

Eat a balanced diet and talk to a dietitian, especially if you have kidney or digestive symptoms. Light exercise, like walking or gentle stretching, may help with strength and mood — but always check with your doctor first.

Mental health and emotional wellbeing

Receiving an amyloidosis diagnosis can bring anxiety, sadness, or uncertainty. These feelings are normal and important to acknowledge. Speaking with a counselor or joining a support group can help you process your emotions and feel less alone.

Prevention

Most types of amyloidosis cannot be prevented, because they are related to genetics or conditions you cannot control. However, some cases linked to long-term inflammation may be prevented by treating the underlying condition carefully.

Vaccines

There is no vaccine to prevent amyloidosis. Staying up to date with recommended vaccines, such as flu and pneumonia vaccines, is still important — especially if the condition affects your immune system.

Screening programmes

There is no routine screening test for the general population. If you have a family history of hereditary amyloidosis, genetic counseling and testing may be something to discuss with your doctor.

Complications

If left untreated

• Chronic kidney disease that can lead to kidney failure
• Heart rhythm problems or heart failure
• Nerve damage causing pain, numbness, or weakness
• Digestive problems such as poor nutrition or bowel changes
• Enlarged liver or spleen

Long-term outlook

The outlook for amyloidosis has improved greatly in recent years. With newer treatments, many people live for many years after a diagnosis. Even though amyloidosis is serious, there is always something that can be done to manage symptoms, protect organs, and support quality of life.

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