About Amyloidosis
General Information
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.
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.2
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 in the peripheral nervous system results in
improper function of your arms and legs
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.
Damage to the heart muscle can lead to heart failure 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.
When the autonomic nervous system is not working correctly, it
may affect involuntary bodily functions, such as breathing,
digestion, and heart rate
Symptoms
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 T80A (formerly known as
T60A) mutation to start showing symptoms is usually between 45 to
78, most often after the age of 60.3 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 infections (UTIs)
- Excessive sweating
- Dizziness upon standing
- Sexual dysfunction
- Nausea and vomiting
- Diarrhoea
- Severe constipation
- Unintentional weight loss
Peripheral nerve-related (polyneuropathy) symptoms
- Tingling
- Numbness
- Carpal tunnel syndrome
- Burning pain
- Loss of sensitivity to temperature
- Weakness
Heart-related (cardiomyopathy) symptoms
- Fatigue
- Dizziness
- Shortness of breath
- Leg swelling (oedema)
- Chest pain
- Palpitations and abnormal heart rhythms (atrial fibrillation)
Other Symptoms
- Glaucoma
- Blurred or spotty vision
- Abnormalities of the pupil or blood vessels on the white of the eye
- Detached retina
- Worsening dementia
- Stroke-like episodes
- Kidney dysfunction
- Headache
- Loss of movement control
- Seizures
- Weakness
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.
1. Gillmore JD et al. Adv Ther. 2022;39(6):2292-2301
2. 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.
3. 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.
Abbreviations
ATTR: Transthyretin amyloidosis
hATTR: hereditary ATTR (hATTR)
MRI: magnetic resonance imaging