Why this one disease is often misdiagnosed in people of color

Many medical professionals are still incorrectly taught that cystic fibrosis is a white disease.

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Tuesday, April 18, 2023
Why this one disease is often misdiagnosed in people of color
Many medical professionals are still incorrectly taught that this disease is a white disease.

Cystic fibrosis could affect anyone, of any ethnicity.

But many medical professionals are still incorrectly taught that CF is a white disease.

For decades, it has been overlooked in people of color -- like Terry Wright, who didn't receive a cystic fibrosis diagnosis until he was 51.

"People looked at him and said, 'Oh if you weren't Black, I would think you had cystic fibrosis," National Geographic's Bijal Trivedi told ABC Owned TV Stations. "Now, that doctor is not using evidence-based medicine to diagnose that patient. That doctor was looking at Terry's face, Terry's color, Terry's race, and deciding that he didn't have this disease."

Trivedi explored this health disparity for NatGeo's new "Mind, Body, Wonder" series.

CF is an inherited disease caused by a mutation in the CFTR gene. This gene is responsible for the protein that regulates chloride -- a component of salt. If it doesn't work properly, liquids in the body get disrupted.

More than 2,500 different types of mutations on the CFTR gene can cause cystic fibrosis, Trivedi reported.

Ancestry plays a large role in which mutations develop, but in the U.S., many tests only detect a mutation common in white people.

"In some states, in Mississippi for example, they only test one mutation, and that's the one that's common in the European population," Trivedi said. "They miss almost 50% of African Americans who have this disease. They miss more than 50% of Asians that have this disease."

There are huge consequences for children who are not diagnosed early, including malnutrition and lung infections.

"When you ignore the evidence, and you just stick with your bias, then I think that that's an indication of systemic racism in medicine," Trivedi said.

Learn more about cystic fibrosis in the U.S. and how we can limit these health disparities going forward at NatGeo.com/health.

ABC OTV and National Geographic will explore health and wellness through four lenses: longevity, women's health, brain health, and diet and nutrition. Using the latest in scientific research and information from experts in the medical field, we'll answer questions about what's essential to the future of your health.

The Walt Disney Co. is the parent company of National Geographic Partners and this ABC station.