AL amyloidosis

If it’s suspected you have AL amyloidosis, you will be sent to the National Amyloidosis Centre (NAC) in London for a combination of tests. Some of these tests are done mainly to confirm a diagnosis and are rarely repeated; others will be repeated to monitor the condition.

Here are some of the tests you may have:

• Biopsies: Biopsies involve the removal of a small sample of tissue, which is then examined for amyloid deposits. A biopsy will usually be taken from the organ affected. You can also have a biopsy taken from your bone marrow which looks for abnormal plasma cells producing amyloid proteins
• Blood tests: Blood tests will look at the number of blood cells you have. The amount of creatinine in your blood can also be measured to monitor your kidney function
• Serum free light chain assay: The serum free light chain assay measures the amount of normal and abnormal light chains in your blood
• SAP scan: Serum amyloid P component (SAP) is a normal protein that binds to amyloid deposits. The SAP scan is a scan that shows where in the body SAP is present and so where there is a build-up of amyloid. This scan is only available at the NAC in London

AL amyloidosis can cause a number of symptoms and affect the body in several ways. This is because the amyloid protein can be deposited in almost any organ in the body.

The symptoms you have will depend on which organ or organs are most affected by amyloid deposits. Most patients will have more than one organ affected by amyloid deposits. The organ that is most affected is referred to as the ‘dominant organ’.

The most common symptoms of AL amyloidosis include:

• General symptoms: fatigue, weakness, weight loss and loss of appetite
• Shoulder pad sign: swelling of the shoulders which is caused by amyloid deposits in the tissues around the shoulders
• Kidney disease: amyloid deposits in the kidneys can affect how well they work. This can increase the risk of fluid retention
• Heart problems: amyloid deposits in the heart can cause it to become unusually stiff and unable to work properly. This can cause shortness of breath. Amyloid deposits can also cause irregular heartbeats (arrhythmia) which can cause breathlessness, dizziness or fainting
• Neuropathy: amyloid deposits affecting your nerves. The nerves of your hands, feet and lower extremities can be affected, causing pain, numbness and tingling (known as peripheral neuropathy). The nerves affecting your internal organs like your heart and gut can also be affected (known as autonomic neuropathy), causing a variety of symptoms such as dizziness, nausea, diarrhoea and/or constipation
• Digestive problems: amyloid deposits in the digestive system can cause feelings of nausea, diarrhoea or of feeling full after eating small amounts. It can also cause weight loss
• Skin changes: bruising, skin changes or nail changes. This is particularly obvious when it causes bruising around the eyes, known as raccoon eyes
• Carpal tunnel syndrome: amyloid deposits in the wrist press on nerves, causing tingling and pain in the wrists and pins and needles in the hands and fingers. Carpal tunnel syndrome is quite common but only rarely caused by AL amyloidosis
• Macroglossia: marked enlargement of the tongue because of amyloid deposits

Not everyone will have all or any of these symptoms and complications. Supportive treatments are commonly used to relieve and, in some cases, help prevent these symptoms and complications.

Treatment for AL amyloidosis can be effective at controlling the condition, reducing symptoms and improving quality of life. Unfortunately, however, AL amyloidosis is currently incurable.

Current treatment aims to kill the abnormal plasma cells that produce the amyloid protein. This can help to prevent new deposits forming.

There are a number of different types of drugs available to treat AL amyloidosis and they are often used in combination with each other.

Depending on your general fitness and age, you may be offered high-dose therapy and stem cell transplantation (HDT-SCT). You can find out more about this by downloading our High-Dose Therapy and Stem Cell Transplantation Infoguide.

Treatment can give you a period of remission, where the AL amyloidosis is not active or causing symptoms. However, after this time you are likely to relapse. This is when the AL amyloidosis becomes active again and you will need further treatment. At relapse, you may be treated with the same combination of drugs as before or a different combination.

Alongside the treatment for your AL amyloidosis, you will be given other treatment to control and alleviate the symptoms and complications caused by the amyloid deposits, and for the side effects of the treatment. This is called supportive treatment. Supportive treatment includes anti-emetics (anti-sickness drugs), antibiotics and diuretics (water tablets).

An AL amyloidosis diagnosis will affect every patient differently, and there is no right or wrong way to feel. Initially you may feel overwhelmed. As you come to terms with your diagnosis, you may feel a mixture of fear, anger and frustration. Sometimes you might feel totally in control of your feelings and at other times strong emotions may catch you unaware. It’s normal to have ups and downs. You may find that changes you need to make as a result of your AL amyloidosis, such as reducing or stopping working, also affect how you feel.

However you’re feeling, it’s important to recognise your emotions and work out how to cope with them. You may find that your relationships change as you and those around you deal with your diagnosis and the changes it may bring. Support from your healthcare team, family and friends, and Myeloma UK can help you to cope with AL amyloidosis.

Living well with AL amyloidosis is possible. It can be wearing and frustrating to live with the side effects and complications of AL amyloidosis and its treatment, however, there are ways you can help to manage them.

Eating a healthy and balanced diet can help to keep your energy levels up and aid recovery after treatment. It is vital that as an AL amyloidosis patient you limit your liquid intake to no more than 1.5 litres a day and have a low salt intake to prevent fluid overload. Gentle exercise can help boost your mood and reduce fatigue too. Remember, you can still enjoy holidays and travelling with AL amyloidosis by doing some extra planning and taking sensible precautions.