Amyloidosis: symptoms, types, diagnosis and treatment

The NHS says common symptoms include feeling very tired or weak, losing weight without trying to, shortness of breath, swollen feet or legs and bruising around the eyes. Other symptoms depend on which parts of the body are affected, so you may not have all of them. The NHS stresses that these symptoms can be caused by many different conditions and having them does not definitely mean you have amyloidosis, but it is important to get them checked by a GP.

Myeloma UK explains that in AL amyloidosis the symptoms depend on which organ or organs are most affected, referred to as the dominant organ, and most patients will have more than one organ affected. It lists general symptoms of fatigue, weakness, weight loss and loss of appetite, and the particular features in the table below.

The NHS describes amyloidosis as a group of rare conditions where a protein called amyloid builds up in the body. Myeloma UK explains that the term is a general one for a group of conditions where an abnormal protein, amyloid, accumulates in tissues, and the build-up is called an amyloid deposit. Deposits can occur in various organs or tissues and cause problems.

Different types are named according to the type of amyloid protein produced, beginning with "A" for amyloidosis followed by letters that identify the protein, for example AL, AA and ATTR. Myeloma UK says the L in AL stands for light chain: in AL amyloidosis, abnormal plasma cells in the bone marrow produce light chains that form amyloid proteins, which the body breaks down only very slowly, so they build up in tissues and gradually damage organs.

The NHS says there are several types of amyloidosis, with different causes. Myeloma UK adds that AL amyloidosis is not itself cancer, but may occasionally be associated with the bone marrow cancer myeloma, and that the cause of AL amyloidosis is not known and is likely to be a combination of genetic and environmental factors.

The NHS says there is no cure for amyloidosis, but some types can be managed well through treatment to improve symptoms. For some people, amyloidosis eventually leads to organs such as the heart or kidneys no longer working properly. If amyloidosis is caused by another health condition such as rheumatoid arthritis, treating that condition can improve symptoms.

The NHS lists other treatments depending on the type and the parts of the body affected: medicines to help with symptoms (painkillers, anti-sickness medicines, or diuretics that reduce swelling), medicines to reduce the amount of amyloid the body produces, kidney dialysis if the kidneys are not working properly, and a kidney or liver transplant if these organs are damaged.

For AL amyloidosis the NHS says you may be offered chemotherapy to destroy the blood cells in the bone marrow that cause the condition, or a stem cell or bone marrow transplant. Myeloma UK says treatment can be effective at controlling AL amyloidosis, reducing symptoms and improving quality of life, but that it is currently incurable and is a relapsing-remitting condition. Treatment aims to kill the abnormal plasma cells that produce the amyloid protein, drugs are often used in combination, and depending on fitness and age you may be offered high-dose therapy with stem cell transplantation.

For transthyretin amyloidosis with cardiomyopathy (ATTR-CM), NICE says tafamidis is recommended as an option in adults with wild-type or hereditary disease, because the main trial shows it reduces deaths and hospitalisations from heart and blood vessel conditions compared with placebo, and it is the first treatment that aims to treat the condition rather than only manage symptoms.

The NHS says that if a GP thinks you may have amyloidosis they will refer you to a specialist, and you may be seen in a specialist amyloidosis treatment centre. It is often hard to diagnose because the symptoms vary and are similar to other conditions. The tests are listed below, and the results show what type of amyloidosis you have and how it is affecting you.

Myeloma UK says that if AL amyloidosis is suspected you will be sent to the National Amyloidosis Centre in London for a combination of tests. These include biopsies of the affected organ or bone marrow, blood tests, the serum free light chain assay, which measures normal and abnormal light chains, and the SAP scan, which shows where amyloid has built up and is available only at the National Amyloidosis Centre.

• Blood tests and urine tests.

• Tests to check the heart and other organs, such as an electrocardiogram (ECG), echocardiogram or MRI scan.

• A biopsy, where a small sample of cells is removed and tested for amyloid.

• A SAP scan, to show where amyloid has built up in the body.

• Genetic testing, to find out if you have a hereditary type.

Myeloma UK says that eating a healthy and balanced diet can help keep energy levels up and aid recovery after treatment, and that gentle exercise can help boost mood and reduce fatigue. For people with AL amyloidosis it says it is vital to limit liquid intake to no more than 1.5 litres a day and to have a low salt intake to prevent fluid overload. Because needs differ by organ involvement, follow the advice of your own care team.

The NHS says that if you have amyloidosis your care team will pass information on to the National Congenital Anomaly and Rare Disease Registration Service, which helps scientists look for better ways to prevent and treat the condition, and that you can opt out at any time.

The NHS says amyloidosis cannot be cured, but some types can be managed well, and that your doctor will explain your treatment options and what to expect. Myeloma UK describes AL amyloidosis as a condition in which treatment can give a period of remission, after which it is likely to relapse and need further treatment, sometimes with the same drugs or a different combination.

Outlook varies by type and by which organs are involved, so it is best discussed with your specialist team rather than from general figures.

The NHS says to see a GP if you have symptoms of amyloidosis, such as unexplained tiredness or weakness, weight loss, shortness of breath, swollen feet or legs, bruising around the eyes, frothy pee or numbness and tingling in the hands and feet. These symptoms have many causes, but it is important to get them checked.

If you have chest pain, severe breathlessness or fainting, treat it as an emergency and call 999, as for any such symptoms.

On the NHS, a GP refers you to a specialist, and you may be seen at a specialist amyloidosis treatment centre. Myeloma UK says AL amyloidosis tests are done at the National Amyloidosis Centre in London. Myeloma UK and the ATTR Amyloidosis Patients Association are the support organisations signposted by the NHS.

Some people also choose a private haematologist, cardiologist or nephrologist. Because amyloidosis is rare and typing the amyloid correctly matters, ask how the diagnosis will be confirmed and how results will be shared with your NHS specialist centre and GP.