Amyloidosis is the name for a group of rare, serious conditions caused by a build-up of an abnormal protein called amyloid in organs and tissues throughout the body.
This build-up of amyloid proteins (deposits) can make it difficult for the organs and tissues to work properly. Amyloidosis can affect different organs in different people, and there are different types of amyloid. hATTR is classed as one form of amyloidosis.
Image - Brooke Park, Derry
About hATTR Amyloidosis
hATTR amyloidosis is caused by a gene change (mutation) that affects the function of a protein in the blood called transthyretin (TTR). This protein is made primarily in the liver. The condition affects multiple organs - most commonly the heart, the nervous system and the digestive system - and is part of a group of diseases called amyloidosis.
hATTR amyloidosis is classed as a rare genetic condition. However, it has been estimated that 1% of people in County Donegal region of North West Ireland carry a mutation that can cause hATTR amyloidosis.1
Rosaline lives in Derry with extended family around Donegal and the northwest region of Ireland.
Learn about Rosaline's story here
hATTR amyloidosis affects multiple organs in the body, including:
The peripheral nervous system, which is made up of nerves that branch out from the brain and spinal cord and communicate with the rest of the body, including your arms and legs.
Nerve damage is called polyneuropathy, resulting in improper function
The cardiac system, which is made up of the heart and blood vessels, transports blood through veins and delivers oxygen to cells in the body.
Cardiomyopathy is a disease of the heart muscle that leads to heart failure
The autonomic nervous system, which is made up of nerves that connect the brain and spinal cord to organs such as the heart, stomach, and intestines.
When the autonomic nervous system is not working correctly, it may affect involuntary bodily functions, such as breathing, digestion, and heart rate
What are the symptoms of hATTR amyloidosis?
The symptoms of hereditary ATTR (hATTR) amyloidosis can vary among people with the condition and even within families. Different symptoms may appear at different times for each person.
The typical age for patients with the T60A mutation to start showing symptoms is usually between 45 to 78, most often after the age of 60.2 Since symptoms of hATTR amyloidosis can become more severe over time, it's important to talk to your doctor as soon as possible about any symptoms that you may be experiencing.
The varying symptoms of hATTR amyloidosis
Autonomic nerve-related symptoms
Recurrent urinary tract
Nausea and vomiting
Unintentional weight loss
Peripheral nerve-related (polyneuropathy) symptoms
Carpal tunnel syndrome
Loss of sensitivity to
Heart-related (cardiomyopathy) symptoms
Shortness of breath
Leg swelling (oedema)
Palpitations and abnormal heart rhythms (atrial fibrillation)
Blurred or spotty vision
Abnormalities of the pupil or blood vessels on the white of the eye
Loss of movement control
Note: This is not a complete list of symptoms that may be experienced in patients with hATTR amyloidosis. Each patient has a different experience and you may not experience all of these symptoms, or you may not experience them at the same time. Symptoms of hATTR amyloidosis may become more severe over time.
More information about symptoms is available here.
The path to diagnosis
Symptoms of hATTR amyloidosis may be similar to those of other conditions. The more educated you are about the symptoms, the better prepared you can be to speak with your healthcare professional about a possible diagnosis.
It is important that you discuss all the symptoms that you may be experiencing. Your health care professional will most likely refer you to one or more specialists including neurologists, cardiologists, gastroenterologists and opthalmologists. This is because hATTR amyloidosis is a multi-systemic disease which can affect multiple parts of the body.
How do you test for hATTR amyloidosis?
Healthcare professionals will use a combination of tests to diagnose hATTR amyloidosis. These may include:
By removing a small sample of tissue for lab examination, your doctors can confirm the presence of amyloid deposits.
This simple blood test will tell you if you carry a mutation in the TTR gene associated with hATTR amyloidosis. Genetic counsellors may be available to help you understand the issues related to genetic testing – including the medical, social and psychological consequences of a positive result – and can help you decide if the test is right for you.
These can include nerve tests, muscle tests, echocardiogram, MRI and other types of scans. They can determine the impact of amyloid deposits on the heart, nerves and other organs.
Speaking with a doctor
Speaking with your healthcare professional about hATTR amyloidosis
Symptoms of hATTR amyloidosis may be similar to those of other conditions. It’s important that you discuss all the symptoms you experience because your healthcare professional may choose to refer you to a specialist who could prescribe further tests to help make a diagnosis.
Learn more about
1. Reilly MM, Staunton H, Harding AE. Familial amyloid polyneuropathy (TTR Ala 60) in North West Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry. 1995; 59:45–49.
2. Sattianayagam PT, Hahn AF, Whelan CJ, et al. Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant. Eur Heart J. 2012; 33:1120–1127.
3. Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy [published online ahead of print, 2020 Jan 6]. J Neurol. 2020;10.1007/s00415-019-09688-0.
ATTR: Transthyretin amyloidosis
hATTR: hereditary ATTR (hATTR)
MRI: magnetic resonance imaging