Amyloidosis is an uncommon disease that occurs when a protein called amyloid misfolds or builds up in one or more organs. This leads to your organs not working properly.
When the protein build-up is in your heart, it is called cardiac amyloidosis.
Symptoms
Amyloidosis
Symptoms of amyloidosis can be the same as (or similar to) the symptoms of other types of heart disease and include:
swelling in your stomach, legs and ankles
palpitations or finding exercise difficult due to irregular heartbeats (arrhythmias)
shortness of breath
trouble breathing when you are lying down
feeling easily fatigued during physical activity
light-headedness or feeling dizzy when you go from lying or sitting to standing
unusual bruising
swelling in your tongue
pain and tingling or numbness in your hands or feet
carpal tunnel syndrome
Types of amyloidosis
Amyloidosis
These are the most common types of amyloidosis:
Hereditary or ‘variant’ transthyretin (ATTR) amyloidosis is a hereditary condition (passed down in families). As well as affecting the heart, this type of amyloidosis can also affect the peripheral nerves and autonomic nervous system.
Wild-type ATTR amyloidosis is the most common type of cardiac amyloidosis. The cause is unknown, but it is believed to be associated with ageing.
Light chain or AL amyloidosis happens when the amyloid protein causes too many ‘plasma cells’ in your bone marrow. It can affect your heart, kidneys, stomach, large intestine, nerves and other organs and issues. It often appears alongside multiple myeloma – a type of cancer that affects your bone marrow.
AA amyloidosis is associated with long-term inflammatory conditions like rheumatoid arthritis, inflammatory bowel disease and other types of chronic infections. This type of amyloidosis can affect your kidneys, liver, stomach and intestines.
When amyloidosis affects your heart, it is called cardiac amyloidosis (or ‘stiff heart syndrome’). As amyloid deposits build up on your heart, they replace the healthy tissue, causing your heart to become thicker and stiffer. This means your heart has to work harder to pump blood around your body. Cardiac amyloidosis can eventually lead to heart failure.
You are more at risk of developing cardiac amyloidosis if you:
have a family history of hereditary ATTR amyloidosis
are older – most people are diagnosed with amyloidosis once they’re over the age of 40
Prevention
Amyloidosis
While there is no known cure for amyloidosis, there are lifestyle changes you can make to help with any symptoms you may have.
Speak to your doctor about what you can do. Lifestyle changes can include:
aiming for and maintaining a healthy weight
reducing salt in your diet
minimising alcohol intake
controlling your blood pressure
managing your stress levels
quit smoking
Diagnosis
Amyloidosis
Early diagnosis and treatment of amyloidosis is important to help limit damage to your heart and other organs.
If amyloidosis is suspected, your doctor will carry out the following tests:
Blood and urine testing – Certain conditions can cause amyloid proteins to appear in your blood and urine. Testing for these proteins can help to confirm a diagnosis.
Echocardiogram (ECHO) – This test uses sound waves (ultrasound) to take a moving picture of your heart. If amyloidosis is suspected, your doctor will be able to see if parts of your heart have become thickened by amyloid build-up.
Electrocardiogram (ECG) – This test measures the rhythm and electrical activity of your heart. It can show if you are experiencing abnormal heartbeat patterns that may suggest cardiac amyloidosis.
Cardiac MRI – With an MRI, your doctor will be able to see if there is any thickening of your heart muscle or if there are any other changes in the structure of your heart due to the amyloid proteins.
‘DPD’ scan or ‘bone scan’ – In most cases, cardiac amyloidosis can be diagnosed with a DPD or bone scan. It is not routinely done in all hospitals, and you may need to be referred to another centre.
Biopsy –Some patients may need to have a heart biopsy to diagnose amyloidosis. If AL amyloidosis is suspected, a bone marrow biopsy may be done.
Genetic testing – If you have a family history of hereditary ATTR amyloidosis, your doctor may advise that you undergo genetic testing. If you are being diagnosed with cardiac amyloidosis, you will also likely have genetic testing. In Ireland, genetic testing is required for all patients with confirmed ATTR amyloidosis as it is part of the treatment application protocol.
Treatment
Amyloidosis
While there is no known cure, most types of amyloidosis are treatable.
Treatment will be tailored to you, but in general, treatment usually focuses on:
preventing the amyloid protein from depositing into the heart or other organs
stabilising heart function (especially if you have ATTR amyloidosis)
chemotherapy to help remove and neutralise amyloid fibrils (if you have AL amyloidosis)
Other treatments may be needed depending on any heart issues you may have and can include medications or heart procedures, like the placement of a pacemaker. Your doctor will advise you on the treatment options that are best for you.
Support for you
Amyloidosis
Getting a diagnosis of amyloidosis and living with this condition can be stressful and overwhelming.
We are here to help with professional counselling and emotional support programmes, our Nurse Support Line, information events and our online community.
In this video, consultant cardiologist, Professor Emer Joyce gives information and advice on amyloidosis.
