What started as an investigation of a drug for the treatment of the rare inherited condition hereditary hemorrhagic telangiectasia—or HHT—that is characterized by malformations of blood vessels in the nose and gastrointestinal system, has led Johns Hopkins researchers to identifying a significant gap in racial and ethnic data that may be negatively impacting the treatment and diagnosis of this rare disorder in diverse patients.
Roughly one-in-5,000 people are thought suffer from HHT which is characterized by intense nosebleeds and often times broken blood vessels near the surface of the skin. As an inherited disorder, these symptoms tend to run in families which can lead to genetic testing to help diagnose the disease. Some cases of HHT can also affect a person’s the nervous and pulmonary systems and the liver. In these severe cases patient experience hemorrhagic nosebleeds, strokes, and have the potential to develop brain abscesses.
Early intervention for the disease are focused on preventing the malformation of blood vessels which can help prevent internal bleeding—another sever complication of the disease. It is for this purpose that Johns Hopkins researchers initially began a study of the anti-cancer drug bevacizumab.
“The study started with the intention of wanting to better explore the benefit of bevacizumab,” said first author Panagis Galiatsatos, M.D., associate director of the HHT clinic and assistant professor of medicine in the Johns Hopkins University School of Medicine. But the research was soon refocused once the team began discovering a substantial lack of racial and ethnic data related to the disease. “We started to wonder if we were looking at indications of inequitable health care both in treating and diagnosing HHT,” Galiatsatos added.
To explore this possibility, the Hopkins team selected four studies published between 2014 and 2019 that investigated the value of bevacizumab as a treatment for bevacizumab. They also explored the social and demographic profiles of the participants in each study and found that race or ethnicity data was missing—which the researchers called a “red flag” as it may critically impact the effectiveness of treatments and clinical decision making to effectively manage this chronic illness.
“I’ve had African American patients who will ask if this treatment will really work for them or if it is safe for someone of their race,” said Galiatsatos, who noted that without study data accounting for race or ethnicity, clinicians can struggle in providing answers to their patients.
This instance is yet another in the growing list of research and treatment disparities that can affect the care of diverse ethnic populations. Even prevalent conditions such as high blood pressure and diabetes are known to have such disparities, the causes of which are multivariate, but have the same disturbing result: a lack of appropriate and actionable data for making informed treatment decisions for these populations. Further, the Hopkins team noted, since people of color are underrepresented in HHT studies such as the ones analyzed, HHT cases may be underreported, too, creating moral and ethical concerns in HHT care.
“HHT affects people of all races and ethnicities,” says Gina Robinson, M.S.N., R.N., program coordinator for the Johns Hopkins HHT Center. “The most important takeaway we found is that we have to do a better job with community engagement and providing inclusive care to all HHT patients.”
