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2021 | HFSA

Like Father, Like Daughter: The Connection Between Genetics and Hereditary ATTR-CM

Patient News Heart Failure Awareness 365

Sponsored content provided by Pfizer                                                                                        

 

Receiving a diagnosis for a serious and life-threatening disease can be life-altering, especially when you learn the disease is the same one your father had. For Faye, this was the reality she faced after being diagnosed at 43 years old with transthyretin amyloid cardiomyopathy (ATTR-CM), an underrecognized and often underdiagnosed condition affecting the heart that leads to heart failure. 

ATTR-CM is a result of transthyretin, a protein made in the liver, changing shape or “misfolding” resulting in a build-up in different parts of the body. Misfolded transthyretin deposits in the heart then cause the heart muscle to thicken and stiffen, eventually leading to heart failure and other symptoms such as fatigue, shortness of breath, and swelling in the arms and lower legs. There are two types of ATTR-CM – hereditary and wild-type. Hereditary ATTR-CM is caused by a genetic mutation that is passed on from a relative, while the wild-type is associated with aging and primarily found in white/Caucasian men over the age of 60. 

Faye, whose father passed away from ATTR-CM in 2010, served as his primary caregiver, so when she started having symptoms such as fluid retention and numbness in her hands and feet, she grew worried. After visiting her primary care physician who couldn’t pinpoint the cause of the symptoms, Faye visited multiple specialists and was ultimately diagnosed with ATTR-CM by her cardiologist with a PYP scan. Genetic testing confirmed Faye indeed had hereditary ATTR-CM, and specifically the T60A mutation, which is most commonly found in people of Irish descent.  

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Though ATTR-CM has had such a strong impact on Faye’s life, she says she couldn’t have made it through her diagnosis without her husband Brad, who has stepped in as her caregiver. “I couldn’t do it by myself. I couldn't walk this journey without him,” said Faye. “Not only the picking me up when I'm in dark spots, but making me laugh, making me see things in a different light, always being willing.” 

Now, Faye appreciates even the smallest moments and lives life with Brad and her two boys to her fullest. “Getting diagnosed early has totally changed my outlook on life,” she said. “Now, I want to share my story with as many people as possible to help educate others on ATTR-CM.” 

Awareness of the condition is low, even among healthcare professionals, and symptoms are often mistaken for more common cardiac conditions such as heart failure. ATTR-CM is a progressive disease and early diagnosis is important.

If you or a loved one is experiencing signs and symptoms like Faye’s (e.g., fluid retention and numbness in the hands and feet) or other symptoms of ATTR-CM (e.g., irregular heartbeat, fatigue, shortness of breath, carpal tunnel syndrome, or biceps tendon rupture), speak to your cardiologist and visit www.YourHeartsMessage.com to learn more.
 


 

Helpful Resources

Visit the HFSA Patient Hub to explore tools and resources to help patients stay healthy while living with heart failure. 

View Heart Failure Awareness 365 activities to stay up-to-date on tips for healthy living for people living with heart failure.


 

About the Sponsor: Pfizer is one of the world’s leading biopharmaceutical companies working to develop effective therapies for patients affected by rare diseases, including transthyretin amyloid cardiomyopathy (ATTR-CM). Pfizer is committed to increasing awareness and furthering research for those with ATTR-CM. To learn more visit www.pfizer.com