Also known as secondary, reactive, systemic reactive (AA), serum amyloid A–related, or inflammation-associated amyloidosis

Inflammation is the body’s normal defence response to injury or infection. When inflammation occurs, the body produces proteins called serum amyloid A. However, in certain health conditions (e.g. rheumatoid arthritis), this defence system stays active for too long, leading to long-term inflammation. During long-term inflammation, too much serum amyloid A is produced, and it builds up in tissues or organs, affecting their ability to work normally. This is known as AA amyloidosis (“am-uh-loi-DO-sis”). AA amyloidosis most commonly affects the kidneys, but it can also affect the liver, spleen, thyroid, heart, and digestive system, leading to symptoms such as swelling, weight loss, weakness, and kidney problems.

Also known as amyloid fibril deposits, amyloid plaques, or amyloid aggregates

Clumps of abnormal transthyretin (“trans-THY-re-tin”, shortened to TTR) protein that have broken apart, and, over time, clump together and build up, causing damage to one or more parts of the body. Depending on which parts of the body are affected, different symptoms and conditions can arise.

Amyloidosis (“am-uh-loi-DO-sis”) is the name for a group of rare conditions that develop when abnormal deposits of protein (called amyloid) build up in different organs of the body, for example in the heart. Over time, the build-up of these deposits can cause damage to one or more parts of the body.

Also known as TTR amyloid cardiomyopathy or transthyretin-related cardiac amyloidosis (TTR-CA)

Transthyretin (“trans-THY-re-tin”) amyloid cardiomyopathy (“kaa-dee-ow-mai-o-puh-thee”) (ATTR-CM) is a type of amyloidosis (“am-uh-loi-DO-sis”) that affects the heart. In ATTR-CM, amyloid deposits build up in the heart muscle, causing the heart to become stiff and less able to pump blood to other parts of the body. Gradually this can lead to heart conditions, including an abnormal heartbeat and heart failure (a condition where, over time, the heart becomes less effective in helping blood move properly through the body).

Also known as familial amyloid polyneuropathy (FAP), familial amyloid neuropathy (FAN), transthyretin familial amyloid polyneuropathy (TTR-FAP), or hereditary amyloid polyneuropathy (HAP)

ATTR-PN is a type of amyloidosis (“am-uh-loi-DO-sis”) that affects mainly the nerves in the hands and feet but may include other parts of the body. In ATTR-PN, amyloid deposits collect around the peripheral nerves. These nerves are like wires that carry information between the brain and spinal cord and the rest of the body, allowing you to respond to your environment (for example, moving your hand away from a hot object). The build-up of amyloid in peripheral nerves can cause damage, which means they gradually lose their ability to work properly. This can also affect a type of peripheral nerve called autonomic nerves. These nerves control automatic body functions like digestion, blood pressure, and sweating. When they’re damaged, it leads to autonomic dysfunction, meaning these automatic processes do not work properly.

Also known as a biceps tendon tear, a biceps tendon avulsion, or rupture of the biceps tendon

A tear in the tendon that connects your upper arm muscle (biceps) to your shoulder or elbow.

Also known as tissue sampling, histologic sampling, or specimen collection

A medical procedure that involves taking a small sample of tissue or cells for examination under a microscope.

Also known as a cardiac physician, cardiology specialist, or cardiac consultant

Cardiologists are expert heart specialists who play a key role in confirming the diagnosis of transthyretin (“trans-THY-re-tin”) amyloid cardiomyopathy (“kaa-dee-ow-mai-o-puh-thee”) (ATTR-CM) and advising you about treatment options.

Cardiomyopathy (“kaa-dee-ow-mai-o-puh-thee”) is a term used to describe a group of diseases that affect the heart, causing the heart muscles to become abnormally stretched, thickened, or stiff. In turn, these conditions make it harder for the heart to pump blood around the body.

Also known as median nerve entrapment at the wrist or median neuropathy at the wrist (MNW)

Numbness, tingling, or pain in your hands and arms caused by a squeezed nerve in the wrist.

Also known as DPD scintigraphy, radionuclide, nuclear medicine, isotope, gamma, or nuclear scan

A test that shows if amyloid has built up in the heart. Before the scan, a small amount of a radioactive substance (containing DPD) is injected into the blood. The substance sticks to amyloid, and a scanner takes pictures that show where the protein has collected.

Also known as cardiac ultrasound

A type of scan that uses sound waves to image your heart, to show its size and shape, and the flow of blood within it.

Proteins are building blocks of the body and help make up important parts of our cells, tissues, and organs. Much like how bricks build a house, together, they help to maintain normal bodily functions and are essential for the structure, growth, and repair of your body.

Also known as an EKG, an electrocardiograph test, or a cardiac electrical tracing

Sensors called electrodes are placed on the body to check your heart’s rhythm and electrical signals.

Phenotypes are the observable features of an individual, for example their appearances or behaviour

 Phenotypes are influenced by the environment and genetics (their genotype). 

Also known as a GI specialist or gastroenterology physician

Gastroenterologists are digestive system doctors. They will be involved in your care if your digestive system is affected.

Also known as mixed-type ATTR, combined phenotype ATTR, overlap phenotype ATTR, or dual phenotype ATTR

It is possible for people with ATTR to have symptoms of polyneuropathy and cardiomyopathy (“kaa-dee-ow-mai-o-puh-thee”), which means they may experience symptoms related to the heart and nerves.

Also known as primary amyloidosis or immunoglobulin light-chain amyloidosis

The body makes antibodies (your body’s natural defence force which help to fight germs and other things such as cancer) in the bone marrow, which is the soft, spongy centre of most bones. In AL amyloidosis (“am-uh-loi-DO-sis”), a part of the antibody (called a light-chain) is misfolded. Faulty light-chains misfold and form clumps which build up in different parts of the body, such as the heart. As well as the heart, AL amyloidosis can affect the kidneys, digestive system, and nervous system, leading to symptoms such as tiredness, unexplained weight loss, and swelling.

Also known as a medical geneticist, clinical geneticist, or genetic physician

Genetic specialists are doctors who check DNA to see if there are any faulty genes. They can confirm whether ATTR is variant (the hereditary form that runs in the family).

Also known as genetic analysis, DNA testing, molecular testing, genomic testing, mutation analysis, or genotyping

Genetic testing usually involves taking a blood or saliva sample to find out the cause of amyloidosis. A scientist will check your DNA to see if you have a gene change linked to variant-type transthyretin (“trans-THY-re-tin”) amyloid cardiomyopathy (“kaa-dee-ow-mai-o-puh-thee”) (vATTR-CM). If you are diagnosed with vATTR-CM, your doctor may recommend that some of your family members also consider genetic testing.

Also known as cardiac failure, congestive heart failure, or cardiac insufficiency

A condition where, over time, the heart becomes less effective in helping blood move properly through the body.

Also known as an implantable defibrillator, an automatic implantable cardioverter-defibrillator (AICD), or a cardiac defibrillator implant

An ICD is a small electronic device placed inside the body to help the heart work effectively. It detects dangerous heart rhythms and delivers a life-saving shock if needed.

Also known as a clinical study, interventional study, clinical investigation, or randomised controlled trial

Clinical trials are studies that test new treatments on people living with a disease to make sure they work how they should. For example, a trial may explore whether people living with a disease who are taking a new treatment show symptom improvement compared to those who have not taken the active treatment. 

Also known as lumbar canal stenosis, lumbar spinal canal stenosis, or degenerative lumbar stenosis

A narrowing in the lower spine that can cause back pain, leg pain, or difficulty walking.

Also known as MR imaging, cardiovascular magnetic resonance (CMR) imaging, or magnetic resonance scan

A medical imaging technique that uses strong magnetic fields and radio waves to create detailed images of the inside of the body.

Monomers are individual building blocks that group together to form larger structures. For the protein transthyretin (“trans-THY-re-tin”, shortened to TTR) to work normally, four monomers must join together.

Also known as a renal specialist or physician

Nephrologists are kidney doctors. They will be involved in your care if amyloid has affected your kidneys.

Also known as a neurology specialist or physician

Neurologists are nerve and brain doctors. They will be involved in your care if you experience symptoms such as numbness, tingling, or weakness.

Also known as organ transplantation, transplantation surgery, organ grafting, or allograft

For some people with transthyretin (“trans-THY-re-tin”) amyloid cardiomyopathy (“kaa-dee-ow-mai-o-puh-thee”) (ATTR-CM), an organ transplant (usually a heart or liver transplant) is considered if no other treatments are appropriate. In this case, the damaged organ is removed and replaced with a healthy donor organ by surgery.

Also known as cardiac, artificial, implantable cardiac, or electronic pacemaker

A pacemaker is a small electronic device placed inside the body to help the heart work effectively. It sends electrical signals to keep the heart beating at a steady rhythm.

Polyneuropathy describes damage to the peripheral nerves

These nerves are like wires that carry information between the brain and spinal cord and the rest of the body, allowing you to respond to your environment (for example, moving your hand away from a hot object).

Tetramers are proteins made up of four parts. These individual building blocks (or “monomers”) are connected like four building blocks clicked tightly together. Transthyretin (“trans-THY-re-tin”, shortened to TTR) is an example of a tetramer that requires four equal parts to work normally. 

Transthyretin (“trans-THY-re-tin”, shortened to TTR) is a protein mainly made in the liver. TTR is a “transport protein,” which means it carries important substances through the blood, including thyroxine (thai-rok-seen”, which is a hormone that helps control growth and development) and retinol (“reh-tuh-nol”, which is a type of vitamin A that helps eyesight).

ATTR amyloidosis (“am-uh-loi-DO-sis”) is caused by the protein transthyretin (“trans-THY-re-tin”, shortened to TTR). Normally, TTR proteins travel around the body as a pack of four (known as a tetramer - a protein made of four parts), like four building blocks clicked tightly together. 

In ATTR amyloidosis, this pack becomes unstable and falls apart into single pieces (monomers). These loose pieces can misfold and stick together in the wrong way, forming clumps of amyloid deposits that can build up in the heart and other places, preventing them from working as they should.

Also known as TTR gene silencers, TTR RNA silencers, TTR synthesis inhibitors, or TTR expression inhibitors

TTR silencers are medicines that reduce the body’s production of TTR protein. With less TTR being made, less amyloid forms and builds up in organs like the heart or nerves.

Also known as TTR stabilising agents, TTR kinetic stabilisers, or TTR tetramer stabilisers

TTR stabilisers are medicines that keep the TTR protein in its normal shape. By doing so, they stop the protein from breaking apart into pieces. This means fewer amyloid deposits build up in the body, and TTR can continue to do its important job of carrying vitamin A through the blood.

Also known as hereditary, inherited, familial, or mutant ATTR amyloidosis

vATTR amyloidosis (“am-uh-loi-DO-sis”) is inherited, which means it is passed down the family tree through the genes (your DNA). An affected gene can cause the protein transthyretin ("trans-THY-re-tin”, shortened to TTR) to become unstable and break apart into pieces, which then clump together and build up in different parts of the body.

Also known as nonhereditary, age-related, or senile ATTR amyloidosis

wtATTR is not hereditary; instead, it develops over the course of a person’s life. In this case, natural processes such as getting older can cause the protein transthyretin (“trans-THY-re-tin”, shortened to TTR) to become unstable and break apart into pieces.

Also known as disease advancement, clinical progression, or disease course

The progression of transthyretin (“trans-THY-re-tin”) amyloid cardiomyopathy (“kaa-dee-ow-mai-o-puh-thee”) (ATTR-CM) refers to the speed at which your disease gradually worsens over time. There are treatments available to help slow down ATTR-CM, stopping or slowing the condition from getting worse over time.