Amyloid transthyretin (ATTR) amyloidosis is a type of amyloidosis, a rare disorder that occurs when there’s a buildup of amyloid proteins in your body. These proteins can build up in the blood vessels, bones, and major organs, leading to a wide range of complications.
While this complex condition isn’t curable, there are treatments that can help you manage it.
Diagnosis and treatment may be challenging at first because the symptoms and causes vary between different types of amyloidosis. They may also mimic other types of conditions, such as heart disease.
Read on to learn more about ATTR amyloidosis, including the potential causes and symptoms, as well as possible treatment options you can discuss with a doctor.
ATTR amyloidosis is related to the abnormal production and buildup of a type of amyloid called transthyretin (TTR). Having too much of this substance can lead to organ damage.
Your body is meant to have a natural amount of TTR, which is
While the exact causes of ATTR amyloidosis may vary, the condition is thought to have a strong genetic component that may run in families.
ATTR is one type of amyloidosis, but there are also subtypes of ATTR to consider.
Hereditary ATTR (hATTR or ARRTm)
Hereditary, or familial ATTR (hATTR or ATTRm), is a type that can run in families. While amyloidosis often affects the kidneys, this is rare with hATTR.
Acquired ATTR (ATTRwt)
On the other hand, acquired (nonhereditary) ATTR is known as “wild-type” ATTR (ATTRwt).
Like other types of amyloidosis, ATTRwt affects the heart and may increase your risk of developing congestive heart failure. It is also considered underdiagnosed, so its prevalence isn’t well understood.
The symptoms of ATTR vary based on the subtype but may include:
- weakness, especially in your legs
- leg and ankle swelling
- extreme fatigue
- heart palpitations (especially in ATTRwt)
- unintentional weight loss
- bowel and urinary problems, including diarrhea
ulcers and gastrointestinal (GI) bleeding
- low libido
- loss of taste
- carpal tunnel syndrome
- hypotension (low blood pressure) and decreased sweat production (in hATTR)
- chest pain
- irregular or rapid heartbeat
- shortness of breath
Diagnosing ATTR can be challenging at first, especially since many of its symptoms mimic other diseases.
But if someone in your family has a history of ATTR amyloidosis, your doctor may want to test you for hereditary types of amyloidosis. In addition to your symptoms and personal health history, your doctor may order genetic testing.
According to the Amyloidosis Foundation, wild types of ATTR may be more difficult to detect at first because the symptoms are similar to congestive heart failure.
To confirm ATTRwt, your doctor may order a biopsy of heart tissues, along with protein analyses and gene sequencing of the sample. They might
If ATTR is suspected and you don’t have a family history of the disease, your doctor will need to detect the presence of amyloids in your body.
One way of doing this is through a nuclear scintigraphy scan.
While not always a cause, other co-occurring conditions (comorbidities) that may be seen with amyloidosis include:
There are two goals for ATTR amyloidosis treatment:
- to stop disease progression by limiting TTR deposits
- to minimize the effects of the condition on your body
The exact treatment for ATTR amyloidosis can also vary by subtype.
For example, since ATTRwt primarily affects the heart, treatments for the disease tend to focus on this area first. According to the Amyloidosis Foundation, your doctor may prescribe:
- tafamidis (Vyndamax)
to treatcardiomyopathy, especially when started in early stages
- diuretics to reduce swelling
- blood thinners
While the symptoms of ATTR often mimic those of heart disease, you may not be able to take certain medications typically used to treat congestive heart failure. In fact, these medications can be harmful. According to the Amyloidosis Foundation, these include:
A doctor may also recommend removing the affected organ that’s producing abnormal TTR. For ATTRwt, this may involve a heart transplant.
Once you start treatment, you will need to speak with your doctor at least every 6 to 12 months for follow-up. They will monitor your ATTR progression, as well as your body’s response to treatment.
While there’s no cure for ATTR amyloidosis, clinical trials are evolving, with possible new treatment advances on the horizon. You may consider talking with a doctor to see if a clinical trial is right for you.
As with other types of amyloidosis, there’s currently no cure for ATTR. However, treatment can help reduce disease progression, while symptom management can improve your overall quality of life.
Overall, all cases of ATTR amyloidosis are still considered serious. hATTR amyloidosis may have a better prognosis compared with other types of amyloidosis due to a slower progression.
The earlier you get tested and receive a diagnosis of ATTR, the sooner you can start treatments to manage your symptoms and improve your overall outlook.
Researchers are continuously learning more about this condition, so it’s important to stay in touch with your doctor about any new treatment options that may help.