Amyloidosis: Signs and Symptoms

Amyloidosis is an unusual condition characterised by deposits of amyloid in different areas of the body, which causes organ damage and other negative effects. There are different types of the condition, which each display a range of painful and uncomfortable symptoms. Although this illness cannot be cured, there are a variety of treatment options available that are designed to manage both the underlying cause of the disease and the symptoms of this illness itself. Additionally, a range of resources and support options are available for people living with this condition.

What is Amyloidosis?

Amyloidosis refers to a collection of rare and incurable diseases which are caused by abnormal deposits of the protein amyloid within the body. Amyloid is an insoluble protein which can accumulate in tissue cells and cause damage to different areas of the body. When the amyloid protein accumulates in organs, it can affect their function. If the protein gets into the bloodstream, it can cause damage throughout the body, known as systemic Amyloidosis.

Amyloidosis is an exceptionally rare condition in Australia. One study based on tissue biopsy samples estimated that around twelve people in every million suffer from this rare illness. In Australia, the survival rate for people diagnosed with Amyloidosis is low. On average, most people live for less than three years following a diagnosis. This is due to the condition leading to organ failure.

Types of Amyloidosis

There are four forms of Amyloidosis, each characterised by a different cause of amyloid protein formation.

Hereditary Amyloidosis

Hereditary Amyloidosis is caused by inheriting a gene mutation. This means that it is passed down within a family. In some cases, people can carry the genetic mutation but not show any symptoms of the disease. Some people can also experience a milder form of Hereditary Amyloidosis, with only minor health issues.

Typically, Hereditary Amyloidosis will affect the eyes, heart, kidney and brain. Some of the health problems caused by Hereditary Amyloidosis include glaucoma, irregular heartbeat, heart failure, renal failure, urinary tract infections, nerve death, and carpal tunnel syndrome.

AA Amyloidosis

AA Amyloidosis occurs as a reaction to another health condition, such as cancer, a chronic inflammatory disease or a chronic infection. In individuals with these conditions, inflammation can occur in the body for a long period of time. Severe and chronic inflammation can cause the AA amyloid protein to deposit in parts of the body, usually the kidneys, liver, spleen, thyroid and heart. Some of the conditions that can lead to AA Amyloidosis include rheumatoid arthritis, Crohn’s disease, tuberculosis, cystic fibrosis and Hodgkin’s disease.

AL Amyloidosis

AL Amyloidosis is the most common type of the condition and is caused by a bone marrow disorder in which plasma cells produce an abnormal antibody protein. These plasma cells are the part of the immune system that makes antibodies for fighting infections. In AL Amyloidosis, abnormal, misfolded protein chains result is the forming of amyloid.

Other

The final form of Amyloidosis is sometimes referred to as ‘wild-type’ or ATTRwt. It is a systemic Amyloidosis disease which is not caused by genetic mutations. This form of Amyloidosis commonly affects the heart and is found in older patients, which makes it commonly overlooked because heart disease is common in older age. Deposits of the amyloid protein in the heart can impact its function, leading to problems with heart rhythm and ultimately to heart failure.

The Signs and Symptoms of Amyloidosis

The signs and symptoms of Amyloidosis will depend on the type of the condition that a patient is suffering from, and the specific parts of the body that are being affected by the disease. However, there are some overarching symptoms that are experienced by most Amyloidosis sufferers. These include:

• Muscle weakness or muscle loss
• Weight loss
• Shortness of breath
• Tiredness and lack of energy
• Numbness or pins and needles, especially in the hands and feet
• Swollen tongue
• Swelling in the legs and ankles
• Dizziness when standing up, or orthostatic hypotension
• Diarrhoea
• Changes in skin colour
• Low red blood cell count, or anaemia
• Joint pain
• Memory loss.

What Causes Amyloidosis?

There is no known reason why some people develop this rare illness. Although the condition is linked to other health problems in some cases – such as AA Amyloidosis occurring after a prolonged period of inflammation – doctors do not know why some people suffer from Amyloidosis and others do not.

Men are more likely to suffer from this illness than women, although the reason for this is unknown. Your risk for developing Amyloidosis goes up as you grow older, and the majority of sufferers are aged 75 and above.

Diagnosing Amyloidosis

Because Amyloidosis is such a rare condition that affects few people in Australia, it often can take some time to be diagnosed. In addition to being rare, the symptoms of Amyloidosis are similar to other common conditions which will need to be ruled out before a diagnosis of amyloidosis can be given.

To diagnose you with Amyloidosis, a doctor will begin by conducting a thorough physical examination. They will also take a detailed medical history from you, to understand if your symptoms could be caused by any other conditions or health problems.

Blood tests and urine tests can be used to identify abnormal proteins, which can help to determine if you may be suffering from this rare illness. Your doctor may also conduct tests on the function of your thyroid and your liver, depending on the symptoms you are displaying.

For a confirmed diagnosis of Amyloidosis, your doctor will need to do a biopsy. This will also let them know the specific type of protein that you have. To complete a biopsy, they will need to take a tissue sample from a part of your body, such as your belly fat, bone marrow, mouth, rectum, or another organ. Ideally, they will take a biopsy from the part of the body damaged by amyloid deposits, although this is not always necessary.

When you have an Amyloidosis diagnosis, your healthcare professionals will usually also want to order some medical imaging tests to check the amount of damage to your organs. This can include scans of your heart, liver or spleen. To do this, they may request an ultrasound, CT scan, or MRI. They may also check your heart with an ECG (echocardiogram).

If your doctor suspects that you may have Hereditary Amyloidosis, they will do a genetic test to check this.

Many of the tests used for diagnosing Amyloidosis will continue to be used to monitor your response to treatment, including frequent blood and urine tests.

Treatment for Amyloidosis

There is no cure for this rare illness, however the disease can be managed and treated, with some people achieving good quality of life despite their diagnosis. Early detection and timely treatment is a key factor in positive outcomes for Amyloidosis sufferers.

Treatment for Amyloidosis will depend on the form of the condition, the type of amyloid protein being produced by your body, and what parts of your body are affected. Due to this comprehensive approach to treatment, many specialists will be involved in providing care, such as neurologists, cardiologists, nephrologists and more.

Types of Treatment

For people with Amyloidosis, healthcare professionals will usually take multiple approaches to providing treatment and care. Because it is a condition that is often caused by other factors, such as a different disease, it is important that these underlying causes are addressed at the same time as treating Amyloidosis. Additionally, most patients require what is referred to as ‘supportive treatment’, or treatment to help with the damage done to organs and tissues as a result of the condition.

Underlying Disease Treatment

The disease or health condition that leads to the development of Amyloidosis will continue to be treated as part of the patient’s overall healthcare plan.

Supportive Treatment

Supportive treatment is specifically focused on treating the symptoms and the outcomes of different forms of Amyloidosis.

Amyloid Source Treatment

This treatment uses a specific drug to target amyloid, slowing down or stopping the overproduction of amyloid at the source.

Treatment for Different Types of Amyloidosis

Hereditary Amyloidosis

Hereditary Amyloidosis requires a mix of both supportive and source treatment to achieve a good quality of life for people suffering from this form of the disease.

Supportive treatment for Hereditary Amyloidosis focuses on dealing with various symptoms, including heart problems, kidney problems, gastrointestinal dysfunctions, neuropathy and more. Doctors and specialists will prescribe medications to help with these symptoms and provide pain relief as needed. Unfortunately, it is very difficult to reverse any damage that has been done to the organs and other parts of the body. Early detection is crucial in making improvements to a patient’s outcome.

AA Amyloidosis

AA Amyloidosis is treated using supportive treatment, source treatment, and treatment of the underlying disease. 

The most important therapy is to treat the underlying infection or inflammation that is causing the AA amyloid deposits in the body. The success of this treatment can be monitored by blood tests that measure inflammation in the blood. Doctors may decide to use drug therapies and antibiotics, to treat issues such as arthritis or a chronic infection. In some cases, surgeries will be used to remove the infected organ.

Supportive treatment is very important for patients with AA Amyloidosis. Many people suffering from AA Amyloidosis experience kidney damage, and kidney health must be closely monitored and managed. This can include through the use of restricted diet, medication, dialysis, and in some cases a kidney transplant.

Source treatment includes using medicine that prevents the AA portion of the SAA molecule from depositing in tissue. This therapy can help to prevent organ damage and delay the need for dialysis.

AL Amyloidosis

Treating AL Amyloidosis requires a mix of both supportive and source treatment.

Management of heart problems, heart failure, and kidney dialysis can make a significant improvement in a patient’s quality of life. Gastrointestinal dysfunction may require treatment for symptoms that include poor nutritional health, diarrhoea or constipation, and nausea or vomiting.

Research for the development of new drugs continues, so that people suffering from AL Amyloidosis can control the condition.

Resources and Support for Amyloidosis

When people are diagnosed with rare diseases, they can feel overwhelmed, scared, and very alone. It can feel difficult to find people who are experiencing the same things as you. 

It’s important that you begin by speaking with your doctor and developing a team of healthcare professionals who are equipped to manage the disease. Because it is a complicated condition that requires multiple forms of treatment, it is essential that your doctors are experienced and will work well together to provide the best possible health outcomes for you.

To connect with other patients and carers of people with Amyloidosis around Australia, take a look at the Australian Amyloidosis Network (ANN). Amyloidosis Centres operate in Sydney, Brisbane, Melbourne and Perth. The ANN website contains many practical resources for patients, doctors, carers and others connected to the disease. They exist to raise awareness, promote clinical trials, and provide assistance to people living with this complex illness.

How Homage can Assist with Your Recovery

People living with Amyloidosis have complex health needs and often require extensive care. Homage can assist you to stay living comfortably in your own home while receiving treatment for different forms of this illness, so that your quality of life can remain as high as possible.

Home personal care provides a local support worker to assist with daily living activities, including eating, bathing, getting dressed, toileting, transferring and continence. Our experienced and compassionate Care Professionals ensure that you can continue living safely and independently at home. They can also assist you with medical escort services so that you can attend doctor’s appointments and hospital visits as needed.

Home nursing services provide a registered nurse to visit you at home and give both simple and complex nursing procedures as needed. This can include stoma care, wound care, tube changes, IV drips, catheter care and more.

Amyloidosis is a difficult disease to be diagnosed with, but there are treatment and management options available. It is important to form a team of healthcare professionals and to access resources and support so that you can continue to enjoy quality of life while living with a form of Amyloidosis.