This website for the UK public is developed and funded by AstraZeneca as part of a disease awareness campaign. It is for information only, not for diagnosis. If you are concerned about symptoms, please see your GP or another healthcare professional.
With a rare condition like ATTRv amyloidosis, you may find that you have lots of questions about how it is diagnosed and managed. This page will guide you through what the diagnosis process usually involves and the support available along the way. Click through the sections below to get started.
The diagnosis process
If you or someone in your family is showing signs of ATTRv amyloidosis, start a conversation with your doctor as soon as possible.
ATTRv amyloidosis is rare and the symptoms can look like other more common conditions. So, your doctor may start by ruling out other possible conditions. Then, depending on which symptoms you have, they will likely refer you to a specialist. For example, if you have numbness in your hands or feet, you may be referred to a neurologist. This is a doctor who specialises in the brain, spine and nerves.
It can take some time to get diagnosed. But it is really important that you keep going. ATTRv amyloidosis is progressive, which means it gets worse over time. The earlier it is diagnosed, the sooner you can be referred to a team of specialists who know how to manage the condition.
Remember that ATTRv amyloidosis is a rare condition, so it may not be the first thing your doctor is looking for. To help you have an informed conversation, we recommend downloading our ‘Talking to my doctor about ATTRv amyloidosis’ resource. It includes guidance on how to:
- Prepare for an appointment
- Explain that you are at risk
- Discuss your symptoms
This resource can also be helpful during hospital appointments following a referral.
You may also wish to familiarise yourself with some key terms and phrases you may hear in conversations about ATTRv amyloidosis. Our glossary provides some guidance on how to pronounce some of the more technical words.
Your healthcare team will usually begin by:
- Asking about your symptoms
- Carrying out a physical exam
- Discussing your family history
If they suspect ATTRv amyloidosis, they may arrange some tests to help confirm a diagnosis.
The hereditary form of ATTR amyloidosis can be identified with a blood or saliva test. This can show whether you have the gene mutation that causes the condition.
If you are found to have the gene mutation, your healthcare team will carry out other tests, such as:
- Echocardiograms (scans of the heart using soundwaves to create an image)
- Nerve and muscle tests
- Blood tests
- Magnetic resonance imaging (MRI) (scans that take detailed pictures of the inside of the body)
- Other scans
Your healthcare team can talk to you about which tests you need and why, and what these involve. Tests may be carried out over a period of time so that your condition can be monitored.
Coming to terms with a diagnosis
It can take time to adjust to your ‘new normal’ as you come to terms with living with a health condition. Remember that there is a lot of specialist support out there.
Top tips for coping with a diagnosis
- Be kind to yourself: lots of new information, thoughts and feelings can be overwhelming. Ask for help if you need it – sharing how you feel can help you process this change
- Take your time: give yourself space to learn how to live with a health condition. Remember to keep making time for things you enjoy
- Build your support network: talking to friends and family about your diagnosis can remind you that you are not alone. Organisations and support networks are also available. You can learn more on our Support groups page
If you have been diagnosed with ATTRv amyloidosis, it is important that your family get tested too. These conversations can be hard and cause a lot of different emotions. You may feel worried about your own future while also feeling fear or guilt about other members of your family being affected. But remember that you are not to blame for this.
There is not ‘one right way’ to approach these conversations. Here are some tips to help you get started:
- Think about when and where you will feel most comfortable to speak about your diagnosis. This could be during a quiet moment at home, or on a peaceful walk
- Remember that you do not need to tell everyone all at once. You can start with just one person
- Have some information about ATTRv amyloidosis and genetic testing ready – they may have lots of questions about how you, and they, may be affected
- Try to be honest about any emotions you are feeling. It is normal to be upset, worried or nervous
- Give them time and space to process the conversation. They may react differently to you
- Be kind to yourself and look after your mental wellbeing. If you need to take breaks or revisit the conversation another day, that is okay
You could try opening the conversation with:
- I have had some news about my health recently that might affect you too
- You might have noticed that I have been struggling with [symptom] recently…
- I wanted to talk about something that could affect your health. Would now be a good time?
A genetic counsellor can also support you and help you decide how to talk about genetic testing with your family and work through your thoughts and feelings. If you are diagnosed, you will be able to talk to a genetic counsellor who can provide support with genetic testing.
If you have any feedback on this resource, please fill in our questionnaire by clicking here.
- NHS. Amyloidosis. Available at: https://www.nhs.uk/conditions/amyloidosis/. Accessed August 2026.
- Rare Disease Advisor. Care team. Available at: https://www.rarediseaseadvisor.com/hcp-resource/transthyretin-amyloid-polyneuropathy-care-team/. Accessed August 2026.
- Nativi-Nicolau JN, et al. Heart Fail Rev. 2022;27(3):785–793.
- NHS. Echocardiogram. Available at: https://www.nhs.uk/tests-and-treatments/echocardiogram/. Accessed August 2026.
- NHS. MRI. Available at: https://www.nhs.uk/tests-and-treatments/mri-scan/. Accessed August 2026.
- Genetic Alliance UK. Seeking A Rare Diagnosis | Adults. Available at: https://geneticalliance.org.uk/wp-content/uploads/2025/05/adult-3-SARD-leaflet.pdf. Accessed August 2026.
- NHS. Genetic and genomic testing. Available at: https://www.nhs.uk/tests-and-treatments/genetic-and-genomic-testing/. Accessed August 2026.
- UCL. National Amyloidosis Centre. Available at: https://www.ucl.ac.uk/medical-sciences/divisions/national-amyloidosis-centre. Accessed August 2026.
GB-77625 | August 2026 | To be reviewed August 2028