By V.S. Santoni

NASHVILLE, TN — More so than their white counterparts, Black adults are twice as likely to experience hospitalization for heart failure. In the US, heart conditions affect nearly 50 percent of African Americans. An even smaller sample of African Americans and Afro-Caribbeans suffer a rare hereditary genetic mutation that causes transthyretin amyloid cardiomyopathy, or ATTR-CM, which leads to heart failure. 

To raise awareness in the African American and Afro-Caribbean communities, Bishop Calvin Barlow of SMB Cooperative Ministries, in partnership with Pfizer, held a webinar on Saturday, February 18. Dr. Victoria Elizabeth Thomas and former NBA basketball player and coach, Don Chaney, himself living with ATTR-CM, spoke during the webinar, giving a professional and personal touch to the discussion. 

As Dr. Thomas noted, bad diet and lack of exercise do not lead to ATTR-CM like with other heart conditions. ATTR-CM occurs when transthyretin (TTR), a transport protein that carries vitamin A and thyroxine around the body, becomes “misfolded.” These misshapen TTR amyloid deposits build up in the heart where they cause cardiomyopathy. This accumulation of TTR proteins prevent the heart from carrying out ordinary functions. There are two types of ATTR-CM: wild type, which is associated with aging and more commonly found in Caucasian men over 60; and hereditary, which has genetic factors, has symptoms that emerge between 50-60 years of age and is more common among African Americans and Afro-Caribbeans. 

Symptoms for the condition mirror those of others and include both heart-related and those that may seem unconnected, including: Fatigue; shortness of breath; swelling in lower legs (peripheral edema); Numbness, tingling, or pain in your fingers (bilateral carpal tunnel syndrome); pain or numbness in your lower back or legs due to narrowing of lower spine (lumbar spinal stenosis); and Eye disorders, such as glaucoma. 

Even though heart failure is common among African Americans, the condition often goes undetected for many reasons, such as: Low awareness of ATTR-CM, prevalence of symptoms which may be unrelated to heart failure, and ATTR-CM symptoms being mistaken for other causes of heart failure. Because the condition worsens over time, with TTR deposits building up in the heart over years, early diagnoses and treatment are important. 

The genetic factors involved in the development of ATTR-CM include a genetic mutation known as V1221, which is mostly found in African Americans. It is believed that between 3-4% of African Americans have the V1221 mutation. Because so little data is available about ATTR-CM, exact percentages are hard to determine, but according to Dr. Thomas it is believed that ATTR-CM affects around 200,000 people (1 in every 1,650 people). 

So, while seemingly rare, raising awareness in the African American and Afro-Caribbean communities, so that individuals can speak with their doctors about genetic testing for the mutation, will help scientists get a clearer picture of how many people the condition actually affects.  

Chaney spoke on living with hereditary ATTR-CM. 10 years prior to developing heart-related symptoms, he suffered with carpal tunnel syndrome in the hands and feet. He says for years his ATTR-CM went undiagnosed because his symptoms were attributed to other causes, and he and his cardiologist didn’t think to sew a connection between his carpal tunnel and his heart-related symptoms. Since then, he has worked hard to raise awareness about hereditary ATTR-CM.

If you have any of the symptoms for ATTR-CM, or are living with heart failure, Dr. Thomas suggests to speak to your healthcare professional about genetic testing for the TTR mutation. With more robust knowledge, healthcare professionals and community members can work together to get a better understanding of how to treat the rare condition.