Wild-type ATTR Amyloidosis (ATTRwt) is age related and mainly affects the heart.
TTR is a natural protein made mostly in the liver. Its role is to transport the hormone thyroxine and retinol (Vitamin A) around the body, hence its name transthyretin. In ATTR amyloidosis, the TTR protein becomes unstable, misfolds and forms amyloid deposits in various organs of the body.
Two main types of ATTR amyloidosis exist:
- Wild-type ATTR amyloidosis (ATTRwt)
Develops with age; acquired not inherited
- Hereditary ATTR amyloidosis (hATTR)
Caused by a faulty or mutated gene that is inherited, i.e. runs in the family
Learn more about hereditary ATTR
In ATTRwt, the natural TTR protein becomes unstable with age, making it prone to misfold and form amyloid deposits mainly in the heart, causing cardiomyopathy. ATTRwt is most commonly reported in men over the age of 60.
We believe that ATTRwt is massively under-diagnosed and is often the underlying cause of heart failure.
3D animated overview of ATTR amyloidosis
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Symptoms usually start after the age of 60 and are mostly associated with cardiomyopathy. Amyloid deposits in the heart make the heart wall stiffen and work inefficiently. Eventually this leads to congestive heart failure with symptoms such as shortness of breath, leg swelling, fatigue, nausea and an irregular heartbeat or palpitations.
Recent studies have shown that other symptoms unrelated to the heart may also exist and in some cases often are present 8-10 years before heart-related symptoms, the most commonly reported is carpal tunnel syndrome.
If ATTR amyloidosis is suspected, a number of tests are carried out including an abdominal fat pad biopsy to confirm the presence of amyloid deposits.
Tests are also done to determine the effect of the amyloid deposits on the heart, nerves and other organs. These tests include blood, nerve and muscle tests, echocardiogram, MRI and other types of scans. In some cases, organ biopsies may also be completed to determine organ involvement. Some scans can help identify the type of amyloidosis and distinguish ATTR from AL amyloidosis in the heart. Doctors also use other tests, called immunohistochemistry and mass spectrometry, to differentiate between ATTR and AL amyloidosis.
To distinguish between wild-type and hereditary ATTR amyloidosis, a blood test to screen for genetic mutations causing hATTR is necessary. The absence of these genetic mutations will confirm a diagnosis of wild-type ATTR amyloidosis.
While there are currently no FDA-approved treatments for wild-type ATTR, it is believed that treatments aimed at stabilizing the TTR protein will prevent it from misfolding. Tafamidis is a TTR stabilizer that has completed clinical trials and is expected to be approved and available to patients with wild-type ATTR amyloidosis in the near future.
Diflunisal is a non-steroidal anti-inflammatory drug (NSAID) that has shown to bind to the TTR protein in the blood and may thereby prevent the formation of amyloid.
A number of novel treatments, intended to stabilize the TTR protein, stop TTR production, and to remove the amyloid deposits, are being developed for ATTR amyloidosis. Results from clinical trials show promise and the hope is that these new treatments will be approved and become widely available in the future.
Supportive treatments are important to help alleviate symptoms and improve quality of life. Overall, factors such as age, general health and extent of organ damage are taken into account when deciding on treatment.
Amyloidosis is a multi-system disease, meaning it affects multiple organs. It is important to be seen at a center that has experience in diagnosing and treating your type of amyloidosis. These centers will have a group of different specialists (i.e., cardiologist, hematologist, neurologist) who will be able to provide a comprehensive evaluation and treatment plan. Learn more about ARC’s treatment center finder MAP here.
Learning about clinical trials can be an important part of your care. In a rare disease such as amyloidosis, treatment options are often limited, and clinical trials may be the best way for you to access new therapies. To learn more about the basics of clinical trials, click here.