Types of amyloidosis

AL amyloidosis is currently the most common type of amyloidosis, with 400 to 500 patients in the UK being newly diagnosed each year. This non-hereditary systemic amyloidosis usually occurs in people who are aged over 45. 

Patients with AL amyloidosis have an underlying bone marrow disorder in which there is overproduction of amyloidogenic proteins called light chains.

These light chains build up and are not cleared away by the body, forming amyloid deposits which may affect any part of the body except for the brain. Usually, one or two organs are predominantly affected (known as the ‘dominant’ organs). 

AL symptoms

Patients with AL amyloidosis may complain of general problems such as:

• weight loss
• fatigue 
• weakness 
• loss of appetite
• easy bruising.

They may also develop symptoms of disease affecting the kidneys, heart, nervous system, gut, liver, spleen, skin and joints.

Macroglossia (enlarged tongue), bruising of the skin round the eyes (‘racoon eyes’ or ‘panda eyes’) and the shoulder pad sign (swelling of both shoulders) are very strongly suggestive of AL amyloidosis but are quite rare, occurring in fewer than 15% of cases.

AL treatment and care

AL amyloidosis is treated in a similar fashion to a bone marrow cancer called myeloma. If you are diagnosed with AL, most patients will be treated with chemotherapy drugs and some patients will undergo stem cell transplantation.

The aim of treatment is to reduce the supply of the amyloid forming light chains in the blood. Treatment is altered depending on how well the light chains are falling and once patients achieve a good response to chemotherapy, they can be monitored by laboratory tests. 

Illness caused by AL amyloidosis can differ considerably between patients and your treatment will be tailored to you after your consultation with our doctors. Your ongoing care will be managed by a team of specialists familiar with the disease. This multidisciplinary team usually includes: 

• a haematologist (blood disorder specialist)
• a nephrologist (kidney specialist)
• a cardiologist (heart doctor)
• a specialist nurse

Gastroenterologists (doctors specialising in the gut), neurologists (specialists who treat diseases of the brain and spinal cord, peripheral nerves and muscles) and lung specialists may also be involved in patient care, depending on the organs affected.

Living with AL amyloidosis

Coping with fluid balance problems 

Many patients with AL amyloidosis have amyloid deposits in the kidneys and/or in the heart. These two problems mean the body is unable to cope well with balancing fluids in the body.

Patients with fluid overload may develop swelling in the legs (oedema) and/or difficulty in breathing due to heart failure. 

Most patients with AL amyloidosis will be advised to limit their fluid intake. Fluid intake should be steady and should usually not exceed 1.5 litres per day. You should also limit your salt intake.

Medication which helps the body remove extra fluid (water tablets or diuretics) are often required; recording your weight daily can help track changes and keep your body in a good fluid balance.

Managing weight loss

AL amyloidosis and its treatment side effects may cause weight loss. Sometimes patients find it hard to eat and drink enough because of feeling generally unwell, loss of appetite or because a sore mouth or altered taste sensation make swallowing difficult.

You may find it easier to eat several small meals each day, if your appetite for larger meals is affected. Going for short walks may help you to feel hungrier.

If your mouth is uncomfortable, soft food and sucking on ice or ice lollies may be helpful. If you are too tired to cook, it may be helpful to ask family members and friends to help with food preparation. 

Dietary advice

A balanced, healthy diet including a wide range of foods is usually advisable for most patients with AL amyloidosis.

Some foods should be avoided temporarily if chemotherapy has caused a low white cell count (neutropenia). Grapefruit should be avoided by people taking chemotherapy drugs as it may interfere with the drugs’ efficacy. 

If amyloidosis has affected kidney function, patients may be given specific advice. Patients experiencing gastrointestinal disturbances such as diarrhoea and/or constipation may also benefit from altered diet. 

It can be very helpful to meet with a dietician for precise and personalised dietary advice — please speak to your nurse or doctor. 

ATTR amyloidosis can be hereditary (runs in families) or non-hereditary (wild-type ATTR).

The symptoms of hereditary ATTR amyloidosis are caused by ATTR amyloid deposits which build up inside body tissues, mainly in the nerves and heart, but also in the eyes and kidneys. 

Non-hereditary amyloidosis is a slow progressive disease affecting elderly people, mostly men.

The cause of the disease is unknown but symptoms usually start after the age of 65 and affect the heart.

There may also be carpal tunnel syndrome (pain and tingling in the hands and wrists), sometimes occurring many years before symptoms of heart disease, and occasionally peripheral neuropathy (when nerves in the body's extremities, such as the hands and feet are damaged).

ATTR symptoms

ATTR amyloidosis mainly affects the heart and the nerves. Symptoms of heart disease may include:

• shortness of breath
• palpitations
• leg swelling
• weight loss
• nausea
• fatigue
• fainting
• chest pain

Symptoms of nervous system disease may include:

• weakness
• pain and loss of sensation in the arms and legs
• disturbances of bowel, bladder, blood pressure and sexual function

How is ATTR amyloidosis diagnosed?

Doctors may suspect ATTR amyloidosis based on patients' symptoms, findings on physical examination and sometimes family history. The diagnosis can be confirmed (or eliminated) by tests including:

• A tissue biopsy (where a small sample of tissue is removed from the body and examined in the laboratory).
• Genetic testing via a blood test at the National Amyloidosis Centre. Results are usually available after four weeks.
• Imaging studies including cardiac MRI, echocardiogram, DPD scan and SAP scan.

ATTR amyloidosis treatment and care

There are variety drug therapies available for ATTR amyloidosis including those which ‘silence’ the abnormal gene, drugs which stabilise the TTR protein so that it is less likely to form amyloid and novel therapies in drug trials. 

The options depend on the type of ATTR, the pattern of disease and the availability of drug studies and will be discussed with patients individually in clinic. 

Living with ATTR amyloidosis 

Coping with fluid balance problems

Many patients with ATTR amyloidosis have amyloid deposits in the heart and struggle with balancing fluids in the body. Patients with fluid overload may develop swelling in the legs (oedema) and/or difficulty in breathing due to heart failure. 

Most patients with AL amyloidosis will be advised to limit their fluid intake. Fluid intake should be steady and should usually not exceed 1.5 litres per day. You should also limit your salt intake.

Medication which helps the body remove extra fluid (water tablets or diuretics) are often required and recording your weight daily can help track changes and keep your body in a good fluid balance.

Managing nerve symptoms

There are specific medications which help with abnormal sensations (pain) in the hands and feet that can be caused by ATTR amyloidosis. Careful foot care is needed to prevent cuts and ulcers if there is loss of sensation.

A combination of medication and modifying your behaviours — such as changing from lying to standing slowly — can also help with low blood pressure, collapses and severe changes in bowel habit caused by the disease’s effect on the automatic nerves.

AA amyloidosis can occur in patients who have suffered from prolonged, chronic inflammatory or infectious diseases for many years.

It is a less common type of amyloidosis due to the greatly improved therapies available for many of the associated inflammatory diseases, such as rheumatoid arthritis and Crohn’s disease. These therapies can be very effective in lowering the amyloid protein (SAA), thereby preventing development of amyloidosis.

AA symptoms

A doctor may suspect AA amyloidosis if a patient with a longstanding inflammatory condition develops symptoms of kidney disease. Protein in the urine is usually the first sign that you have this condition. 

After that, more serious kidney disease can develop, including nephrotic syndrome, when very large amounts of protein in the urine make it appear frothy, and there is ankle swelling and weight gain. The spleen is also often enlarged.

AA treatment

In AA amyloidosis, the goal of treatment is to control the underlying inflammatory disease, leading to a drop in the amyloid protein SAA levels.

In recent years, the outlook for patients with AA amyloidosis has improved dramatically with the introduction of new and effective drugs for inflammatory diseases.

Doctors will monitor the SAA levels in your blood to determine whether the treatment is controlling inflammation adequately. They may also undertake a repeat SAP scan to show how effectively the amyloid deposits are being cleared.

All patients with AA amyloidosis affecting their kidney function will be seen regularly by a nephrologist (kidney doctor). They will:

• monitor your fluid balance to prevent swelling in the legs
• regularly test your kidney functions with blood and urine tests 
• for patients who have already developed kidney failure before their AA amyloidosis was controlled, dialysis may be necessary or kidney transplantation

AFib amyloidosis is a rare inherited genetic condition that is equally common in men and women.

People with this condition develop kidney disease caused by build-up of abnormal protein deposits called amyloid in their kidneys. 

AFib symptoms

Possible signs of AFib amyloidosis include:

• protein in your urine, which may be detected by a urine test; this may not cause any symptoms unless there is a large amount of protein, in which case the urine may appear frothy
• swollen ankles due to fluid retention and low blood albumin (detected in blood tests)
• hypertension (high blood pressure), often diagnosed before the appearance of kidney disease 
• progressive kidney failure resulting in eventual need for dialysis may be necessary or kidney transplantation

Abnormal kidney function is usually first diagnosed in this condition in middle age. Kidney function then tends to become progressively worse over several years until the kidneys stop functioning altogether. ‘Renal replacement’ treatment (either dialysis or kidney transplantation) is then required.  

How is AFib amyloidosis diagnosed?

Tests used for diagnosing AFib amyloidosis include:

• kidney biopsy (where a small sample of kidney tissue is removed and examined for signs of damage or disease)
• SAP scan to see where amyloid deposits are present
• genetic testing via a blood test at the National Amyloidosis Centre. Results are usually available after four weeks

How is AFib treated? 

All patients with AA amyloidosis affecting their kidney function will be seen regularly by a nephrologist (kidney doctor). They will:

• monitor your blood pressure and fluid balance
• regularly test your kidney functions with blood and urine tests 
• prescribe water tablets (diuretics) to help your body lose excess salt and water if required
• if necessary, talk about options for dialysis or organ transplantation

Some types of amyloidosis are extremely rare, including:

• ALys amyloidosis, AAPoA1 and A2 amyloidosis — these are hereditary conditions with a broad spectrum of symptoms, some of which may mimic the more common AL amyloidosis, although they are very different diseases. Symptoms usually appear in middle age and treatment is symptomatic — aimed at easing the symptoms, not eradicating the disease.
• ALECT2 amyloidosis — this mainly affects the liver and the kidneys, and is generally diagnosed in patients over the age of 60. There are no specific treatments, but all patients with ALECT2 amyloidosis affecting their kidney function will be seen regularly by a nephrologist (kidney doctor) who is expert in amyloidosis. ALECT2 amyloidosis in the liver may not require treatment.