Dr. Kevin Williams Issues Caution To African Americans About Rare Heart Disease

“About 3-to-4-percent of the African American population are thought to be carriers of the mutation,” according to Dr. Kevin Williams, Pfizer Rare Disease Chief Medical Officer. (Photo: iStockphoto / NNPA)

By Stacy M. Brown, NNPA Newswire Senior National Correspondent

It was less than four years ago that Pfizer Rare Disease teamed with the National Newspaper Publishers Association (NNPA) to assess the awareness of sickle cell disease, the challenges of living with it, and the importance of clinical trial participation.

The partnership between the pharmaceutical giant and the NNPA, which represents the Black Press of America, resulted in conducting polls and helping researchers succeed in developing potential new treatments.

With the most recent collaboration between Pfizer Rare Disease and the Black Press, the organizations embarked on a mission to educate and raise awareness of transthyretin amyloid cardiomyopathy – or ATTR-CM.

“ATTR-CM is a rare, life-threatening, underrecognized, and underdiagnosed type of amyloidosis that affects the heart and it is associated with heart failure,” Dr. Kevin Williams, Pfizer Rare Disease chief medical officer, told the NNPA in a live interview.

“The disease disproportionately affects African Americans,” Dr. Williams maintained.

He said underdiagnosed genetic mutation in African Americans carries an increased risk for heart failure.

“A genetic variant called V122I could lead to a higher risk of heredity transthyretin amyloid cardiomyopathy, which is caused by a buildup of protein in the heart,” Dr. Williams continued.

A concern about ATTR-CM is that it remains challenging to diagnose.

“It’s vital that patients act as their best advocates,” Dr. Williams decided.

“ATTR-CM could be building for years before doctors notice the obvious signs.”

Pointing out that detailed information about ATTR-CM could be found on the website, yourheartsmessage.com, Dr. Williams noted what happens to cause the disease.

He said the liver produces transthyretin, a transport protein carrying the hormone thyroxine and vitamin A through the bloodstream.

When an individual has ATTR-CM because of aging or an inherited genetic variant, the protein becomes unstable and misfolds.

When the disease is caused by aging, it’s called wild-type. When it’s an inherited genetic variant, it’s hereditary.

Over time, the misfolds proteins join and build up in the body, including in the heart, which causes the muscle to stiffen. That leads to heart failure, Dr. Williams noted.

While the wild-type ATTR-CM is associated with aging, the hereditary form is caused by a change in a gene.

It is passed down from a relative.

However, Dr. Williams cautioned that more than 120 known mutations cause hereditary ATTR-CM, with the most common mutation in America being V122I.

That mutation almost exclusively affects African Americans, Dr. Williams said.

“About 3-to-4-percent of the African American population are thought to be carriers of the mutation,” Dr. Williams stated.

“We know Black people experience higher rates of heart disease than anyone in the United States,” he continued.

“It is really important for Black people who are experiencing any unresolved symptoms related to heart disease or those who have a family history or are diagnosed with any heart disease to talk with their doctors. Ask them about ATTR-CM because not all physicians have a full understanding of this disease.”