ATTR amyloidosis results from the buildup of transthyretin in the body. It can be inherited or acquired and can affect your heart, kidneys, and nervous system. While there’s no cure, treatment can help slow progression.

Amyloidosis occurs when amyloid proteins buildup in the body. Several types of amyloid proteins can build up, resulting in different types of amyloidosis with different symptoms. These proteins can build up in the blood vessels, bones, and major organs, leading to various complications.

One of the most common types is amyloid transthyretin (ATTR) amyloidosis. While this complex condition isn’t curable, treatments are available to 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 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 naturally makes some TTR, primarily by the liver. When it enters the bloodstream, TTR helps transport thyroid hormones and vitamin A throughout the body.

While the exact causes of ATTR amyloidosis may vary, experts think the condition has 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

Hereditary ATTR (hATTR) is a type that can run in families. You may also see it as ATTRv, where the “v” stands for “variant.” A 2018 study estimated that hATTR affects about 10,000 people worldwide, but the number could be closer to 40,000.

Parents pass on hATTR to their children via their genes in an autosomal dominant pattern. That means if one of your parents carries the gene variant (mutation) that causes hATTR, there’s a 50% chance you’ll inherit the same mutation.

Still, not everyone who inherits the mutation develops hATTR. Other factors, including geography and ethnicity, may play a role.

Acquired ATTR

Acquired (nonhereditary) ATTR is known as “wild-type” ATTR (ATTRwt). This type is more common in males, though experts aren’t sure why.

Both hATTR and ATTRwt increase your risk of cardiomyopathy and heart failure. However, neuropathy (a problem with your nervous system) is a common feature of hATTR but rare in ATTRwt.

According to the Amyloidosis Foundation, research links ATTRwt with aging but not necessarily with neurological diseases like dementia.

Symptoms of ATTR amyloidosis can vary significantly, but possible symptoms include:

With amyloidosis, you may also be more prone to heart disease, especially with wild-type ATTR. You might notice additional heart-related symptoms, such as:

  • chest pain
  • irregular or rapid heartbeat
  • dizziness
  • swelling
  • shortness of breath

Diagnosing ATTR can be challenging, especially since many of its symptoms mimic other diseases.

But if someone in your family has a history of ATTR, a doctor may want to test you for hereditary types of amyloidosis. In addition to your symptoms and personal health history, a doctor may order genetic testing.

According to the Amyloidosis Foundation, ATTRwt may be more challenging to detect at first because the symptoms are similar to congestive heart failure.

To confirm ATTR, a doctor may order:

If they suspect ATTR and you don’t have a family history of the disease, a doctor will need to detect the presence of amyloids in your body.

One way of doing this is through a nuclear scintigraphy scan. This scan looks for TTR deposits in your bones. A blood test can also determine if there are deposits in the bloodstream.

ATTR treatment aims to:

  • stop disease progression by limiting TTR deposits
  • minimize the effects of the condition on your body

The exact treatment for ATTR can also vary by subtype. For example, since ATTRwt primarily affects the heart, treatments tend to focus on this area first.

Once you start treatment, you’ll need to speak with your doctor at least every 6 to 12 months for follow-up. They’ll monitor your ATTR progression as well as your body’s response to treatment.

Medications

Medications for ATTR typically try to stabilize TTR or silence it (prevent its production).

Tafadamis (Vyndamax) is the only TTR stabilizer approved by the Food and Drug Administration (FDA) to treat cardiomyopathy from ATTR. It’s not approved to treat ATTR with peripheral neuropathy, but a doctor may prescribe it off-label for that purpose.

Another TTR stabilizer, acoramidis, recently completed phase 3 clinical trials. It may be an alternative to tafamidis but is awaiting FDA review.

In December 2023, eplontersen (Wainua) was the first TTR silencer to gain FDA approval for hATTR with peripheral neuropathy. Several others are still undergoing research.

A doctor may also prescribe:

However, some researchers note that these supportive therapies may have limited benefit and require more research.

Heart medications to avoid with ATTR

While ATTR symptoms often mimic those of heart disease, you may not be able to take certain medications doctors typically use to treat congestive heart failure. In fact, these medications can be harmful. According to the Amyloidosis Foundation, these include:

Organ transplants

A doctor may also recommend removing the affected organ that’s producing abnormal TTR. For ATTRwt, this may involve a heart transplant. However, because people with ATTRwt are usually older, doctors may not recommend this procedure.

While a 2021 review indicates a decline in heart transplants for this subtype due to other available treatments, it may still be a preferred method for younger adults.

In hATTR, a liver transplant can help stop the buildup of TTR.

Emerging treatments

While there’s no cure for ATTR amyloidosis, clinical trials are evolving, with possible new treatment advances on the horizon.

Recent research suggests that gene therapy may be a promising treatment for hATTR. But larger clinical trials are needed before the treatment can receive FDA approval.

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.

Still, doctors consider all cases of ATTR amyloidosis to be serious. People with hATTR may have a more favorable outlook than people with some other types of amyloidosis due to a slower disease progression.

The earlier you undergo testing and receive a diagnosis, the sooner you can start treatments to manage 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.

ATTR amyloidosis results from the buildup of TTR in your body. This can be due to genetics (hATTR or ATTRv), which typically causes symptoms to appear at a younger age but progresses slowly. It can also be acquired (ATTRwt) and is linked to aging, especially in males.

While there’s no cure, treatments are available to manage symptoms and slow disease progression. Researchers are continuing to study new ways to treat ATTR amyloidosis. Although diagnosis can be challenging due to symptoms resembling other conditions, a prompt diagnosis can help ensure timely treatment.