AL amyloidosis: symptoms, diagnosis and treatment in the UK

Amyloidosis is a group of rare conditions in which a protein called amyloid builds up in the body. Myeloma UK explains that in AL amyloidosis the amyloid deposits are made of light chains, which are proteins produced by abnormal plasma cells in the bone marrow. The amyloid protein folds abnormally and forms deposits in tissues.

The NHS lists AL amyloidosis as one of the main types, alongside AA amyloidosis (linked to long-term inflammatory conditions), hereditary ATTR, wild-type ATTR and beta-2 microglobulin amyloidosis. The types have different causes and treatments, which is why identifying the type is a key part of diagnosis.

Because the underlying problem lies in plasma cells in the bone marrow, the NHS links AL amyloidosis with multiple myeloma and signposts Myeloma UK for information.

Myeloma UK says AL amyloidosis can cause a wide range of symptoms because it can affect different organs. General symptoms include fatigue, weakness, weight loss and loss of appetite. The NHS lists common symptoms of amyloidosis as feeling very tired or weak, losing weight without trying, shortness of breath, swollen feet or legs, and bruising around your eyes.

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 advises getting them checked by a GP and says to see a GP if you have symptoms of amyloidosis.

Because symptoms vary and look like other conditions, the NHS says amyloidosis is often hard to diagnose. Persisting unexplained breathlessness, swelling, numbness or weight loss deserve review, particularly if more than one organ seems involved.

If a GP thinks you may have amyloidosis, the NHS says they will refer you to a specialist, and you may be seen in a specialist amyloidosis treatment centre. You will usually have blood and urine tests, heart and other organ tests such as an ECG, echocardiogram or MRI scan, a biopsy to check for amyloid, a SAP scan to show where amyloid has built up, and genetic testing to find out if you have a hereditary type.

Myeloma UK adds that tests include blood tests, tissue biopsies, kidney and heart tests and scans, and that guidelines recommend that, if possible, people should attend the National Amyloidosis Centre in London for a series of tests before they are diagnosed. These tests show what type of amyloidosis you have and how it is affecting you.

The NHS says there is no cure for amyloidosis, but some types can be managed well through treatment to improve symptoms. For AL amyloidosis, the aim is to reduce the abnormal cells producing light chains. The NHS says you may be offered chemotherapy to destroy the blood cells in the bone marrow that cause the condition and a stem cell or bone marrow transplant.

Supportive treatment is also important: the NHS lists medicines for symptoms such as painkillers, anti-sickness medicines and diuretics to reduce swelling, kidney dialysis if the kidneys are not working properly, and kidney or liver transplant if these organs are damaged. Myeloma UK says you will be given supportive treatments for side effects of both AL amyloidosis and its treatment.

Myeloma UK explains that treatment can be very effective in controlling the condition, managing symptoms and prolonging life, but that after every successful treatment and period of remission, you will eventually relapse and need treatment again.

The NHS says that for some people amyloidosis eventually leads to organs such as the heart or kidneys no longer working properly, and that your doctor will explain your treatment options and what to expect. Your specialist team can explain what to expect in your own case.

Myeloma UK says a diagnosis can have a considerable emotional impact and that support is available, including support for carers. Its guide covers how to cope with side effects and how to live well with the condition.

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

The NHS says you may be seen in a specialist amyloidosis treatment centre, and Myeloma UK says guidelines recommend attending the National Amyloidosis Centre in London for tests where possible. Local haematology and organ teams work alongside the specialist centre.

A private haematologist may be consulted for an initial assessment or second opinion, but identifying the amyloid type needs the specialist tests the NHS describes, including biopsy and a SAP scan. Whichever route you take, make sure results are shared with the specialist team and your GP.