Amyloidosis

What is amyloidosis?

Amyloidosis is a rare condition caused by abnormal protein known as amyloid. This protein can build up in tissue and organs including the heart, kidney, and nervous system, affecting their function.

How does amyloidosis affect the heart?

Amyloidosis can cause a condition known as cardiac amyloidosis, often referred to as ‘stiff heart syndrome’.

This can cause thickening of the heart muscle (cardiomyopathy) and abnormal heartbeats (arrhythmias).

Cardiac amyloidosis can also lead to heart failure.

What are the symptoms of amyloidosis?

Amyloidosis can present with a wide range of symptoms, depending on which organs are affected. Some people may have no symptoms in the early stages of the condition.

Symptoms of amyloidosis can include:

• fatigue and weakness
• unexplained weight loss
• swelling of the feet, ankles, and legs (oedema)
• shortness of breath
• pins and needles or numbness in hands and feet
• swollen tongue
• bruising
• diarrhoea
• purple spots (known as purpura) around the eye

What causes amyloidosis?

Amyloidosis can be inherited, caused by another health condition, or developed as a primary condition.

In some people, the cause of amyloidosis is unknown.

The main types of amyloidosis are:

• AL (Primary) Amyloidosis, the most common type, which occurs when the body produces abnormal forms of antibodies called light chains, which accumulate to form amyloid deposits
• AA (Secondary) Amyloidosis which is caused by chronic disease, cancer or infection
• Familial ATTR Amyloidosis which is caused by a hereditary gene mutation
• Wild-Type (Senile) ATTR Amyloidosis which is more likely to occur over the age of 70 years and commonly affects the heart

How is amyloidosis diagnosed?

Amyloidosis can be hard to diagnose as the symptoms are similar to those of other common conditions.

Your doctor may conduct the following tests to diagnose amyloidosis:

• blood and urine tests
• x-rays
• bone marrow biopsy
• tissue biopsy
• bone scan

If you are diagnosed with amyloidosis, your doctor may do additional tests to check the function of organs such as the heart and kidneys.

These tests may include:

• echocardiogram (heart ultrasound)
• MRI

How is amyloidosis treated?

Treatment will depend on the type of amyloidosis, the severity, and which parts of the body are affected.

Treatment options may include:

• treatment of underlying health conditions
• medication to slow amyloid activity
• dietary intervention
• heart medications (if the heart is affected)
• dialysis (if the kidneys are affected)
• organ transplantation in advanced cases

How can amyloidosis be prevented?

Amyloidosis can not be prevented, though managing health conditions that can cause amyloidosis may decrease your risk of developing the condition.

What research is the Institute conducting into amyloidosis?

The Institute’s Dr Nikki Bart heads an amyloidosis clinic which opened in 2022 at St Vincent’s Hospital in Sydney. The clinic offers streamlined, specialist care for those with amyloidosis, along with treatments that can reduce symptoms and improve survival rates.

The clinic is currently conducting several trials of therapies including medications, injections and gene-modifying therapies.

Dr Bart is also working to raise awareness and understanding of amyloidosis within the medical and general communities.

Clinicians can refer amyloidosis patients by emailing amyloidreferrals@svha.org.au.