Behind the Biomarkers

Cardiologist Seeks Clues

About 25 years ago, cardiologist Jane Leopold, M.D., noticed that people with pulmonary hypertension (PH) differed from her typical cardiac patients with chest pain and heart attacks. Patients with some forms of PH were younger, sicker, had more physical limitations and seemed to be hospitalized more frequently with heart failure, shortness of breath and other issues.

Despite many advancements in PH diagnosis and treatment since then, researchers still need to better understand the disease to identify and develop the right drugs to make people feel better and live longer, says Dr. Leopold, director of the Women’s Interventional Cardiology Health Initiative at Brigham and Women’s Hospital in Boston. “What we have is still not good enough.”

Dr. Leopold is among the investigators of a pulmonary vascular disease omics (PVDOMICS) study funded by the National Institutes of Health, National Heart, Lung, and Blood Institute and the Pulmonary Hypertension Association (PHA). One aim of the study, “Redefining Pulmonary Hypertension through Pulmonary Vascular Disease Phenomics (PVDOMICS)”, is to identify biomarkers to improve PH diagnosis and treatment.

The study will help Dr. Leopold and her colleagues find subgroups of patients that cluster together within and among the five PH groups based on underlying causes, and the findings could upend the current PH classifications. Investigators believe they will find more alike people within the subgroups than within their “assigned” groups. This will provide new information about disease severity, life expectancy and response to medication. They also want to learn whether people stay in the same subgroup or shift among them over time.

“Patients never fall neatly into a single category, and those within each group are really different from each other. Let’s find out what the new groups should be, based on blood samples and clinical testing.”

The research wouldn’t have been possible without PHA and people with PH enrolled in the study, Dr. Leopold says. “There’s going to be a lot interesting information from this study. For the first time, we can compare patients with PAH and those with CTEPH or PH related to other diseases.”

Ideally, Dr. Leopold would love to see the study expand to other centers throughout the United States. “We need to get people to come into the study with really different backgrounds and experiences to find out how this affects the disease process.”

Dr. Leopold hopes her work to better understand, identify and treat PH will improve the patient journey and decrease the times patients are misdiagnosed.