The path to discussion and diagnosis
Hereditary ATTR (hATTR) amyloidosis is a rare disease which has symptoms that may be similar to those of other conditions. This may lead to misdiagnosis or delays in diagnosis.
The following steps can help you to have an informed conversation with your doctor and ensure he or she has the information needed to 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
Armed with your knowledge of potential symptoms and family history, it’s time to discuss hATTR amyloidosis with your doctor.
Be prepared to talk to your doctor about your concerns, including the fact that there are diseases with symptoms that may appear to be similar to those of hATTR amyloidosis and misdiagnosis may be common.
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
Chronic inflammatory demyelinating polyneuropathy (CIDP)
Hypertensive heart disease
Motor neuron disease
Understand the importance of genetics
Alnylam Pharmaceuticals is sponsoring no-charge, third-party genetic testing and counseling for individuals who may carry gene mutations known to be associated with hATTR amyloidosis.
Genetic testing and counseling may help to:
- Identify risk of disease for patients and their family members
- Shorten the time to diagnosis and prevent misdiagnoses
- Help patients consider clinical trials
- Provide information about support resources such as patient advocacy organizations
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 receives contact information for healthcare professionals who use this program. Genetic testing is available in the U.S. and Canada. Genetic counseling is only available in the U.S. Healthcare professionals who use this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any Alnylam product.
Know that treatment options are available
If you are diagnosed with hATTR amyloidosis, treatments are available that address the underlying cause of the disease. These therapies can help by decreasing the amount of TTR protein that’s made in the body. There are also treatments that bind to TTR proteins and help prevent them from forming clusters.
Liver and/or heart transplant is also an option for some patients who meet certain eligibility criteria.
Since the symptoms of hATTR amyloidosis can worsen over time, managing symptoms is an ongoing process. Doctors may prescribe medication to help manage some of the symptoms that may reduce the daily impact on patients. Additional treatment options for hATTR amyloidosis are currently being researched.