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Home #NNPA BlackPress

Ask Dr. Kevin: The Challenges of Diagnosing Hereditary ATTR-CM, a Rare Heart Disease – A Patient’s Journey

aframnews by aframnews
August 13, 2020
in #NNPA BlackPress, Black History, Community, Dr. Benjamin F. Chavis Jr., Featured, Health, National, News, NNPA, NNPA Newswire
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By Dr. Kevin Williams, Chief Medical Officer for Rare Disease at Pfizer

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The “Ask Dr. Kevin” series is brought to you by Pfizer Rare Disease in collaboration with the National Newspaper Publishers Association (NNPA) to increase understanding of hereditary ATTR-CM, or transthyretin amyloid cardiomyopathy, and the risk to African Americans.

There are two sub-types of ATTR-CM, wild-type and hereditary. Wild-type ATTR-CM is thought to be the most common form of ATTR-CM, is mostly associated with men over the age of 60 and is not caused by a mutation in a person’s genes. Most wild-type patients are white. Hereditary ATTR-CM is inherited from a relative and is due to genetics, affecting both men and women. In the United States, the most common genetic mutation associated with hereditary ATTR-CM is found almost exclusively in people of African or Afro-Caribbean descent. Symptom onset can occur in people as early as their 50s or 60s; however, people who have the mutation may never develop symptoms of the disease.

As I continue this series, I’d like to share with you the personal experience of one person living with hereditary ATTR-CM, Randy, and his wife and caregiver, Priscilla.

Randy is a 75-year-old man, originally from Trinidad and Tobago, now living in New Orleans. In 2018, he was officially diagnosed with hereditary ATTR-CM, a rare, life-threatening disease that’s associated with heart failure, but Randy actually began experiencing symptoms four years earlier. Unfortunately, Randy’s long road to diagnosis and his struggle to find information about the condition is common for patients with ATTR-CM. Awareness among patients, and even primary care physicians and cardiologists remains low, which results in ATTR-CM being significantly underdiagnosed.

Randy’s Journey to Diagnosis

In 2014, Randy was diagnosed with carpal tunnel syndrome (numbness, tingling, and pain in the fingers), which at first seemed to be associated with his former job as a college professor, a profession that forced him to spend many workdays connected to his computer keyboard. Around this time, during his routine jogs, he also started to notice tingling in his extremities and shortness of breath but did not think the symptoms could be related.

For patients with ATTR-CM, the disease often presents with symptoms of heart failure, such as fatigue, shortness of breath and peripheral edema (swelling in the lower legs), but may also include other symptoms such as carpal tunnel syndrome, gastrointestinal issues (constipation, nausea, diarrhea), peripheral neuropathy (decreased or strange tingling sensation or pain in feet or toes), or lumbar spinal stenosis (narrowing of the spine that can cause pain or numbness in the lower back and legs).

As Randy’s symptoms continued to progress, he realized something was wrong, prompting him to follow up with his doctor. Randy’s doctor initially credited his shortness of breath to chronic obstructive pulmonary disease brought on by heavy smoking during his youth and the poor air quality in New Orleans. However, the other symptoms he was experiencing still didn’t quite add up.

Randy’s Diagnosis

Then, one day, Randy was visibly struggling to climb the stairs at his daughter’s townhouse. His daughter, who is a healthcare professional, immediately knew he was in cardiac distress and rushed Randy to the ER for testing.

After receiving multiple diagnostic tests, he learned that he had congestive heart failure and the walls of his heart were stiff. His cardiologist also had Randy undergo genetic testing, which helped inform his diagnosis of hereditary ATTR-CM, the type of ATTR-CM that is inherited from a relative.

Randy’s Life with ATTR-CM

Following Randy’s diagnosis, he and his wife, Priscilla, quickly realized their daily lives would be changed drastically. Priscilla started to pick up even more responsibilities around the house, while also helping Randy manage his ATTR-CM. Priscilla shared, “When Randy was first diagnosed, I was surprised because he had always been very healthy. Overall, I would say my reaction was shock.”

“I was going to my primary care doctor about my shortness of breath, but the connection to ATTR-CM was not made,” Randy recalled. “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.”

Despite the challenges of life with ATTR-CM, Randy and Priscilla are now advocating to bring attention to the disease, as they believe there is not nearly enough education and awareness about ATTR-CM and the importance of early testing, especially within the African American community. With the disproportionate rates of heart disease and heart failure in this population, it’s important to find the primary cause of heart conditions with the help of a cardiologist.

If you’d like to learn more about hereditary ATTR-CM, including signs and symptoms, visit www.YourHeartsMessage.com.

*Dr. Kevin Williams is the Chief Medical Officer for Rare Disease at Pfizer. He pursued medicine after being inspired by his father’s work as a general practitioner in his hometown of Baton Rouge, Louisiana. Dr. Kevin is passionate about raising awareness and increasing understanding of ATTR-CM in the African American community. You can follow Pfizer on Facebook and Twitter.

Tags: carpal tunnel syndromediagnosisfatiguefeaturedheart failureHereditary ATTR-CMlife-threatening diseasenational newspaper publishers associationnumbnesspainperipheral edemaPfizerPfizer Rare Diseaseshortness of breathtingling
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