Understand how ATTR amyloidosis (ATTR) is diagnosed

The more you know about ATTR, the better prepared you’ll be to recognize symptoms and possible signs of progression.

Symptoms of ATTR can affect several parts of the body, so it is important to keep track of your symptoms. Use the Symptoms Checklist & Tracker to monitor how you’re feeling and record any new or changing symptoms. Share these notes with your doctor so they can get a more accurate picture of your condition.

hATTR is an inherited disease. Even if your family members may not have been diagnosed with hATTR, a family history of symptoms related to hATTR may be a sign of the hereditary form of the disease.

It's important to talk to your family about their symptoms to get a better picture of your family health history.

Find out more about hATTR »

Armed with your knowledge of potential symptoms, it’s time to discuss ATTR with your doctor.

Tell your doctor about all the symptoms you are experiencing, even if you think they’re unrelated or don’t apply to your doctor’s specialty. Misdiagnosis or delays in diagnosis are common because the symptoms of ATTR are similar to those of other conditions, including:

• Hypertensive heart disease: damage to the heart caused by high blood pressure
• Aortic stenosis: narrowing of the aortic heart valve
• Hypertrophic cardiomyopathy: disease that thickens the wall of the left ventricle of the heart and impairs heart function
• Chronic inflammatory demyelinating polyneuropathy (CIDP): autoimmune disorder in which the body attacks its own nerves
• Idiopathic neuropathy: damage to the nerves with an unclear cause
• Diabetic neuropathy: nerve damage caused by diabetes

If your doctor thinks you may have ATTR, they may conduct assessments of heart and nerve function, or order imaging studies or laboratory tests to determine the cause of your symptoms. The diagnostic process may include these preliminary tests.

Tests that measure how well your heart is working:

• Electrocardiography (ECG/EKG) can detect heart-related conditions. Electrodes are used to record electrical activity and the rhythm of the heart
• Echocardiography (Echo) is a type of imaging that uses ultrasound to visualize the heart structure and measure heart valve function and cardiac muscle strength
• Cardiac magnetic resonance imaging (CMRI) is a type of imaging that uses a magnetic field to visualize the heart structure and determine how well blood flows through the heart

Tests that measure how well your nerves are working:

• A nerve conduction study (NCS) can detect nerve damage. It uses electrodes to test the speed at which electrical impulses move through the nerves
• Electromyography (EMG) can detect abnormalities in the nerves and muscles by measuring the electrical activity of muscle in response to a nerve’s stimulation

Common tests used to help confirm a diagnosis

If preliminary test results suggest the possibility of ATTR, your doctor may perform additional tests to help confirm the diagnosis, such as:

• Technetium pyrophosphate scintigraphy (PYP scan), which is a type of imaging and a non-surgical way of detecting amyloid deposits in the heart
• A tissue biopsy to identify amyloid deposits in the tissues
• Genetic testing from DNA samples (blood, cheek swab, or saliva) to detect genetic variants in the TTR gene

Genetic testing is needed to determine if you have wild-type or hereditary ATTR and if other family members should get tested to understand their own risk of developing the disease.

These are not complete lists of tests that can assess symptoms or help confirm a diagnosis related to ATTR. Depending on your symptoms, your doctor may order other tests.

If you are living with ATTR, starting treatment soon after diagnosis is key to managing your symptoms.

There are treatment options available for patients with certain symptoms and types of ATTR that address the underlying cause of the disease. These work by:

• Silencers: Reducing the amount of TTR protein made in the body, which can help decrease the formation of amyloid deposits
• Stabilizers: Decreasing the amount of TTR proteins that take on an abnormal shape and form amyloid deposits in the body

Since symptoms of ATTR can worsen quickly over time, managing symptoms is an ongoing process. Work with your doctor to ensure that you are taking the right steps to manage your disease.

Find out more about a treatment option »