Understand how ATTR amyloidosis (ATTR) is diagnosed

Because ATTR can affect how you live your life, it is important to work with your doctor to get an accurate diagnosis as soon as possible.

Misdiagnosis or delays in diagnosing ATTR are common because the varying symptoms can be mistaken for other conditions.

An accurate diagnosis is essential to ensure your doctor and healthcare team are managing your condition appropriately. A misdiagnosis may lead to unnecessary complications. That's why open communication with your healthcare team is important.

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Know the condition

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

Track your symptoms

Symptoms of ATTR can affect several parts of the body, so it is important to keep track of your symptoms. Use the Symptom 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.

Talk to your doctor about symptoms

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
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

Get familiar with the tests

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.

Genetic testing and counseling options

Alnylam Pharmaceuticals sponsors no-charge, third-party genetic testing and counseling for individuals who may carry one of the 120 or more gene variants known to be associated with hATTR.

Learn more about Alnylam Act®. The Alnylam Act® program was created to provide access to genetic testing and counseling to patients as a way to help people make more informed decisions about their health.

While Alnylam provides financial support for this program, tests and services are performed by independent third parties
Healthcare professionals must confirm that patients meet certain criteria to use the program
Alnylam receives de-identified patient data from this program, but at no time does Alnylam receive patient-identifiable information. Alnylam may use healthcare professional contact information for research purposes
Both genetic testing and genetic counseling are available in the US and Canada
Healthcare professionals or patients who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use, or support any Alnylam product
No patients, healthcare professionals, or payers, including government payers, are billed for this program