AL Amyloidosis

AL amyloidosis is not easily recognisable as the symptoms often mimic other conditions, making it difficult to diagnose. As proteins build up over time, symptoms may not be apparent right away, though occasionally they can appear very suddenly and with great impact. ^[1][2][3]

Symptoms will depend on which organs are affected by the amyloid deposits and the degree that organ function is impaired. ^[1][2][3]

Common symptoms include fatigue, weakness, loss of appetite and weight loss, bruising around the eyes or other skin areas, nail changes and fluid retention that causes swelling (oedema). Amyloid deposits in the tongue result in swelling called Macroglossia making it hard to speak or eat. Deposits in hands and feet can cause tingling and numbness. Some patients even notice enlargement of the shoulders with joint restriction. ^[1][2][3]

What to look out for in AL amyloidosis

Symptoms that are more likely to be experienced in a person who has AL amyloidosis include: ^[4]5

• Shortness of breath

• Swelling of the lower extremities

• Swelling of the salivary glands

• Skin changes, such as bruising around the eyes

• Unexplained severe fatigue or weakness

• Weight loss

• Nail changes

• Hair loss

• Numbness, burning, tingling or pain in your hands or feet

• Diarrhoea, possibly with blood, or constipation

• Enlarged tongue

• Irregular heartbeat (arrhythmia)

It is important to remember that AL amyloidosis is a rare condition, and some of these symptoms may be caused by other conditions or may not be a cause for concern. However, if you are worried, get in touch with your doctor.

Ongoing symptom development

Amyloid proteins can continue to build up in parts of the body, such as the heart, kidneys, spleen, liver, nerves or digestive system. If this happens you may experience some of the following symptoms: ^[1]6

• Feeling lightheaded or fainting, particularly after standing or sitting up

• Numbness or a tingling feeling in the hands and feet, which may feel a bit like pins and needles (peripheral neuropathy)

• Numbness, tingling and pain in the wrist, hand and fingers (carpal tunnel syndrome)

• Nausea, diarrhoea or constipation

• Easy bruising

• Swelling

• Kidney failure

• Heart impairment (the leading cause of death from the condition)

AL amyloidosis does not affect the brain, so it does not cause memory or thinking problems.

Diagnosing AL amyloidosis is challenging because signs and symptoms often mimic other conditions.⁷ In fact, almost one third of people with the disease will visit more than five physicians before receiving a diagnosis. More than a third of patients will wait over a year, after symptoms begin, before receiving a diagnosis.⁸ Early diagnosis means treatment at an earlier stage, which is critical for preventing further organ damage and helping to ensure more positive outcomes.⁷

Common tests that are used to diagnose AL amyloidosis:

There are a few test options your doctor may recommend. Blood and urine tests are standard. However, depending on the symptoms, doctors may recommend testing a bone marrow sample, examining organ tissue, or conducting an ultrasound to see if there is any build-up. Specifically, they may organise the following tests: ⁷⁹

• Using a dye that shows amyloid deposits – known as Congo Red staining – in fat tissue or bone marrow samples

• Amyloid typing – a test to measure the type of amyloid-related proteins

• Echocardiogram – an ultrasound of the heart

• Bone marrow aspirate – sample of liquid bone marrow

• Bone marrow biopsy – sample of bone marrow tissue

• Organ biopsies (though these are rarely required) ¹⁰

How might you feel after receiving a diagnosis?

Any rare disease can be an emotional weight to bear. Shock, anger and depression are normal emotions to experience, and may linger throughout the treatment process. The right physical care and emotional support is essential.

A caring loved one can make every difference. More guidance for carers can be found here.