“I was going to my primary care doctor about my shortness of breath, but the connection to ATTR-CM was not made. Once I got the diagnosis, my cardiologist was the main source of information but even so, I did a lot of research on my own. We really had to inform ourselves,” Randy recalled.
Unfortunately, Randy’s long road to diagnosis and difficulty finding information is an all too common experience for those with ATTR-CM. Awareness of the condition is low, even among primary care physicians and cardiologists, and as a result, it continues to be significantly underdiagnosed.3 For this reason, people with heart failure and their caregivers must advocate for themselves and discuss their symptoms with their cardiologists, who can run tests to confirm if they have the disease if the symptoms of ATTR-CM sound familiar.
With the disproportionate rates of heart failure, heart attacks, and other serious heart conditions in the African-American community, it’s important to fully explore the underlying cause of these conditions with the help of a cardiologist.4,5 Attempting to find the underlying cause of your symptoms is especially important in the case of ATTR-CM. There are two forms of condition, hereditary or variant (hATTR) and wild-type (wtATTR). In the United States, the most common mutation associated with hereditary ATTR-CM, known as V122I (valine-to-isoleucine substitution at position 122), is found almost exclusively in people of African American, African or Afro-Caribbean descent.7,8 “The African-American community needs to be made aware of ATTR-CM. There needs to be a lot more done in order to publicize the symptoms of this disease, so more people can be aware and tested early,” Randy said.
It is important to clinically differentiate between ATTR and immunoglobulin light chain amyloidosis (AL), as they have different clinical courses, and AL requires immediate treatment.9 Once ATTR-CM is suspected, a cardiologist can perform several tests to help diagnose or identify risk of developing the disease, such as a non-invasive imaging test, called nuclear scintigraphy, and/or a cardiac biopsy. If a diagnosis of ATTR-CM is made, genetic testing and counseling may be suggested to confirm or rule out the hereditary form of ATTR-CM. Genetic testing is especially important in the African Americans who’ve been diagnosed with ATTR-CM, as it can help inform family members if they might be at risk for developing the condition.
If you or a loved one have heart failure and are experiencing symptoms similar to Randy or other symptoms related to ATTR-CM, talk to your cardiologist and head over to www.YourHeartsMessage.com to learn more about this rare and life-threatening disease.
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