The path to an hATTR amyloidosis diagnosis
Hereditary ATTR (hATTR) amyloidosis is a rare disease with symptoms that may be similar to those of other conditions. These similarities may lead to misdiagnosis or delays in diagnosis.
The following steps can help you to have an informed conversation with your doctor and ensure they have the information needed to help make an accurate assessment of your risk for hATTR amyloidosis.
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Learn more about hATTR amyloidosis
Take note of symptoms
Talk to your family
hATTR amyloidosis is an inherited condition, so while your family members may not have been diagnosed with the condition, they may have experienced symptoms similar to yours.
Talk to your doctor about symptoms and family history
Armed with your knowledge of potential symptoms and family history, it’s time to discuss hATTR amyloidosis 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 hATTR amyloidosis are similar to those of other conditions. Knowing what to look for can help you recognize the symptoms sooner and work with your doctors to determine an accurate diagnosis.
Conditions with symptoms similar to that of hATTR amyloidosis
This list may not be all-inclusive.
Amyotrophic lateral sclerosis (ALS)
Amyloid A (AA) amyloidosis
Amyloid light chain (AL) amyloidosis
Carpal tunnel syndrome
Charcot-Marie-Tooth (CMT) disease
Chronic inflammatory demyelinating polyneuropathy (CIDP)
Hypertensive heart disease
Motor neuron disease
Wild-type ATTR (wtATTR) amyloidosis
Consider genetic testing to help confirm a diagnosis
If your doctor thinks you may be at risk for hATTR amyloidosis, they may recommend you work with a genetic counselor. Genetic counselors are trained healthcare professionals who can help you and your family learn more about the condition, the chances of you and your family inheriting it, whether genetic testing is right for you, how testing works, and what may happen after a diagnosis.
A genetic test will determine whether a person carries one of the more than 120 variants in the transthyretin (TTR) gene associated with hATTR amyloidosis. Once a gene variant is identified, family members of an affected individual can use this information to help determine their own risk.
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 amyloidosis.
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
Know that treatment options are available
If you are living with hATTR amyloidosis, starting treatment soon after diagnosis is key to managing your symptoms.
There are treatment options available for patients with certain symptoms of hereditary ATTR (hATTR) amyloidosis that address the underlying cause of the disease. These work by:
- Decreasing the amount of TTR protein made in the body, which can help decrease the amount of amyloid deposits that form
- Preventing some TTR proteins from taking on an abnormal shape and forming amyloid deposits in the body
Since symptoms of hATTR amyloidosis 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.