Research News

As a physician and a scientist, Keith McCrae, MD, observes all aspects of hereditary hemorrhagic telangiectasia (HHT), a genetic bleeding disorder that affects about 1 in 5,000 people. Often characterized by nosebleeds that are frequent and sometimes severe, patients with HHT may also experience bleeding in the stomach or intestines, as well as anemia.

The unpredictability and severity of the condition can have a significant effect on a patient’s quality of life. Assessment tools widely used in the medical field to measure dimensions of wellness (like the 36-item Short Form Health Survey) do not include questions specifically about bleeding. With multiple drugs for HHT entering clinical trials, Dr. McCrae knew this needed to change. A recent article published in the Journal of Thrombosis and Haemostasis presents an HHT-specific quality of life survey developed by Dr. McCrae and collaborators across the country.

Impact beyond static data points

Quality of life surveys complement measures that capture aspects of a patient’s health at a specific moment in time, like test results. Similar to patient-reported outcome measures, these questions record information that paints a wider picture of a patient’s well-being.

In patients with HHT, nosebleeds (and other effects of the disease, like anemia) could lead to changes in mental, emotional or physical health. For instance, a person might experience:

• Decreased interest in daily activities, including social plans or exercise
• Fear of when and where a nosebleed could occur
• Fatigue from low iron
• Depression, if the aforementioned factors lead to an isolated and sedentary lifestyle

"I’ve learned from talking with patients with HHT that nosebleeds are always in the back of their minds, and part of trying to manage this disease must include understanding its potential impacts on all areas of life,” Dr. McCrae says. “That means asking the right questions throughout the treatment process.”

An HHT-specific, validated instrument

Dr. McCrae and his collaborators—including Cure HHT—developed the HHT-specific Quality of Life (HHT-QoL) scale to more effectively assess the disease’s impact on patients’ physical, social, personal and work lives. The four questions in the survey ask about frequency of nosebleeds and how often a nosebleed has interrupted activities, as well as how many times a person avoided social plans because they were afraid of having a nosebleed.

The survey also helps track the impact of potential treatments. Researchers validated the survey using data from a 2024 clinical trial that demonstrated the safety and effectiveness of pomalidomide, a cancer drug, in treating HHT. They concluded that the HHT-QoL provided scores consistent with similar quality of life assessments and that it could be used reliably for HHT patients.

“The development and availability of the HHT-QoL scale supports our goal to raise awareness about this disease,” says Dr. McCrae, who has recently joined the Cure HHT Global Research and Medical Advisory Board. “Quality of life is an essential part of any clinical trial...having a scale specifically designed for HHT patients will bring their experiences to the forefront."