It is the broad consensus that all people who have suspected or diagnosed with ATTR amyloidosis should be assessed by a specialist in a dedicated specialist unit. If you have been told you may have ATTR amyloidosis or have been diagnosed with ATTR amyloidosis and you have not been referred to a specialist centre for follow-up, you should ask for clarification from your doctor or clinical team.
In the UK, the main referral centre is the NHS National Amyloidosis Centre (NAC) at the Royal Free Hospital in London. It may be that more specialist centres appear across the UK over the coming years, which may reduce the need to travel to London.
Doctors may suspect ATTR amyloidosis based on either a patient’s symptoms, findings of a physical examination and sometimes their family history.
The diagnosis can be confirmed (or eliminated) using specific tests including:
1. Tissue biopsy (a sample of tissue is taken from your body and tested in a lab
2. Genetic testing (this usually involves taking a sample of blood)
3. Imaging studies (medical equipment takes images of certain parts of your body)
Diagnosis
It is the broad consensus that all people who have suspected or diagnosed with ATTR amyloidosis should be assessed by a specialist in a dedicated specialist unit. If you have been told you may have ATTR amyloidosis or have been diagnosed with ATTR amyloidosis and you have not been referred to a specialist centre for follow-up, you should ask for clarification from your doctor or clinical team.
In the UK, the main referral centre is the NHS National Amyloidosis Centre (NAC) at the Royal Free Hospital in London. It may be that more specialist centres appear across the UK over the coming years, which may reduce the need to travel to London.
Doctors may suspect ATTR amyloidosis based on either a patient’s symptoms, findings of a physical examination and sometimes their family history.
The diagnosis can be confirmed (or eliminated) using specific tests including:
1. Tissue biopsy (a sample of tissue is taken from your body and tested in a lab
2. Genetic testing (this usually involves taking a sample of blood)
3. Imaging studies (medical equipment takes images of certain parts of your body)
Tissue biopsy
In this procedure, a small sample of tissue is removed from the body with a needle and examined in the laboratory. Most biopsies are painless and some use local anaesthetic to numb the area beforehand. After having a biopsy, you usually won’t feel any pain either. If you do experience a dull ache or slight discomfort, your doctor may recommend painkillers to help relieve this.
When ATTR amyloidosis is suspected, the biopsy sample may be taken from the heart, a nerve in the arm or leg or the bowel, depending on the symptoms of the patient.
In the laboratory, the tissue sample is examined using specific techniques to identify amyloid fibrils. This includes staining of the tissue with a dye that can identify amyloid.
Further testing can determine which type of ATTR amyloidosis is present, by distinguishing between ‘variant’ ATTR in hereditary ATTR amyloidosis and ‘wild type’ ATTR in wild-type ATTR amyloidosis.
Tissue biopsy
In this procedure, a small sample of tissue is removed from the body with a needle and examined in the laboratory. Most biopsies are painless and some use local anaesthetic to numb the area beforehand. After having a biopsy, you usually won’t feel any pain either. If you do experience a dull ache or slight discomfort, your doctor may recommend painkillers to help relieve this.
When ATTR amyloidosis is suspected, the biopsy sample may be taken from the heart, a nerve in the arm or leg or the bowel, depending on the symptoms of the patient.
In the laboratory, the tissue sample is examined using specific techniques to identify amyloid fibrils. This includes staining of the tissue with a dye that can identify amyloid.
Further testing can determine which type of ATTR amyloidosis is present, by distinguishing between ‘variant’ ATTR in hereditary ATTR amyloidosis and ‘wild type’ ATTR in wild-type ATTR amyloidosis.
Genetic testing
Genetic testing involves examination of the DNA from a patient’s cells. These tests are performed on blood samples.
These techniques can identify abnormalities in the TTR gene – the blueprint for making the TTR protein.
There are over 150 known alterations in the TTR gene, and different ones lead to different types of disease. The precise gene alteration identified may provide information about how the disease may progress.
For example, the most common worldwide mutation, known as the V30M alteration – often leads to amyloid deposits just in the nerves, not in the heart.
In contrast, the V122I alteration – commonly associated with people of black African or Afro-Caribbean descent – more often leads to amyloid deposits that cause problems just in the heart, not in the nerves.
As wild-type ATTR amyloidosis is not caused by a gene alteration, genetic testing will not detect any abnormalities in the ATTR gene for this form of the disease.
Genetic testing
Genetic testing involves examination of the DNA from a patient’s cells. These tests are performed on blood samples.
These techniques can identify abnormalities in the TTR gene – the blueprint for making the TTR protein.
There are over 150 known alterations in the TTR gene, and different ones lead to different types of disease. The precise gene alteration identified may provide information about how the disease may progress.
For example, the most common worldwide mutation, known as the V30M alteration – often leads to amyloid deposits just in the nerves, not in the heart.
In contrast, the V122I alteration – commonly associated with people of black African or Afro-Caribbean descent – more often leads to amyloid deposits that cause problems just in the heart, not in the nerves.
As wild-type ATTR amyloidosis is not caused by a gene alteration, genetic testing will not detect any abnormalities in the ATTR gene for this form of the disease.
Imaging studies
Imaging studies typically look at the heart to see if amyloid is present and/or what damage has occurred.
Common types of imaging technology that you may hear referred to may include:
- ECG (echocardiogram) – this type of test is a quick, safe and painless way of checking your heart activity. During an ECG, you will be asked to lie down, and small electrode sensors are then fixed to the skin using sticky papers. These are usually stuck on the shoulders, chest, wrists and ankles.
- DPD scanning – this is where a very small, safe amount of radioactive substance – called a tracer – is injected into the body. The tracer collects in certain areas of the heart and can help to detect amyloid deposits. After this injection, you will have a 2-3 hour break before being asked to return to the hospital for a follow-up scan. During the scan, you will be asked to lie down whilst a type of camera – a gamma camera – rotates above you and takes pictures of your heart. This part of the test can take around 30 minutes, so you will have to try and lie very still throughout.
- Cardiac MRI scanning – this type of scan involves lying down inside a large MRI machine. As this type of machine can be quite noisy, you will be asked to wear headphones. The scan can take anywhere between 15 – 60 minutes, during which time pictures of your heart are taken.
SAP scanning, which helps to show amyloid deposits in organs such as the liver, spleen and kidneys, does not show amyloid deposits in the heart or nerves and so is less commonly used.
Imaging studies
Imaging studies typically look at the heart to see if amyloid is present and/or what damage has occurred.
Common types of imaging technology that you may hear referred to may include:
- ECG (echocardiogram) – this type of test is a quick, safe and painless way of checking your heart activity. During an ECG, you will be asked to lie down, and small electrode sensors are then fixed to the skin using sticky papers. These are usually stuck on the shoulders, chest, wrists and ankles.
- DPD scanning – this is where a very small, safe amount of radioactive substance – called a tracer – is injected into the body. The tracer collects in certain areas of the heart and can help to detect amyloid deposits. After this injection, you will have a 2-3 hour break before being asked to return to the hospital for a follow-up scan. During the scan, you will be asked to lie down whilst a type of camera – a gamma camera – rotates above you and takes pictures of your heart. This part of the test can take around 30 minutes, so you will have to try and lie very still throughout.
- Cardiac MRI scanning – this type of scan involves lying down inside a large MRI machine. As this type of machine can be quite noisy, you will be asked to wear headphones. The scan can take anywhere between 15 – 60 minutes, during which time pictures of your heart are taken.
SAP scanning, which helps to show amyloid deposits in organs such as the liver, spleen and kidneys, does not show amyloid deposits in the heart or nerves and so is less commonly used.