AL Amyloidosis
Symptoms of 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.
Symptoms will depend on which organs are affected by the amyloid deposits and the degree that organ function is impaired.
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.
AL amyloidosis and the heart
Amyloid deposits in the heart can cause muscles to become unusually thickened and stiff, making it harder to pump blood around the body. This results in shortness of breath occurring during low intensity activity, as well as dizziness or fainting. Amyloid can also affect the electrical system of the heart, causing the normal heartbeat to speed up or slow down (arrhythmia). Some patients will also suffer from oedema in the lower legs, or in the abdomen, which can cause weight gain.
AL amyloidosis and the kidneys
Amyloid deposits in the kidneys can affect how they filter toxins and proteins in the blood. This may result in a condition called nephrotic syndrome, where there is excess protein in the urine causing the lower legs to become swollen (oedema). Swelling can also affect the belly, arms and lungs. In more extreme cases patients can suffer from kidney failure and need to be treated with dialysis.
AL amyloidosis and the nervous system
Amyloid deposits can affect the nerves in a patient's hands, feet or lower legs resulting in pain, numbness and/or tingling. Nerves that control blood pressure, heart rate, bowel and other body functions can also be affected, causing dizziness when standing up too quickly, nausea, diarrhoea and/or constipation.
What to look out for in AL amyloidosis
Symptoms that are more likely to be experienced in a person who has AL amyloidosis include:
- 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:
- 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.
Diagnosis and testing
Diagnosing AL amyloidosis is challenging because signs and symptoms often mimic other conditions. 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. Early diagnosis means treatment at an earlier stage, which is critical for preventing further organ damage and helping to ensure more positive outcomes.
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:
- 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)
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.