NIH researchers have developed a first-of-its-kind blood test that can easily evaluate disease severity in individuals with pulmonary arterial hypertension (PAH) and even save lives.

It has been discovered by NIH researchers that a unique blood test can be used to easily evaluate disease severity in individuals with pulmonary arterial hypertension (PAH) and estimate survivability. A rare, potentially fatal illness called PAH results in unexplainedly high blood pressure in the lungs. In early clinical experiments, the researchers demonstrated that the test is vastly superior than standard diagnostics, some of which employ intrusive instruments.

The newly developed blood test analyzes DNA shards released by cells that have been damaged. These fragments, known as cell-free DNA, were discovered to be higher in the blood of PAH patients and to rise with the severity of the condition. If more research backs up the findings, this first-of-its-kind blood test for people with PAH could help doctors act faster to stop or slow the disease’s progression and possibly save lives. Cell-free DNA analysis is a relatively new technique that is being used more and more in medicine. It can be used to find early signs of cancer and rejection of heart and lung transplants.

The NHLBI and the NIH Clinical Center (also part of the NIH) provided funding for the study. The findings were published in the journal Circulation today.

A rare kind of pulmonary hypertension called PAH can impair breathing and result in weariness and chest pain. The NIH’s Genetic and Rare Diseases Information Center estimates that less than 50,000 persons in the United States have the condition, whose precise cause is unknown. Small pulmonary arteries in the lungs gradually narrow and get blocked, the right side of the heart experiences strain, and the patient eventually passes away from heart failure. When lung damage is severe, lung transplantation may be necessary. The majority of PAH patients are female, and the illness has a significant mortality rate. Despite improvements in treatment, there is currently no cure.

The current methods for assessing the severity of PAH rely on known risk prediction scores based on clinical symptoms and on the intrusive use of a catheter to detect lung pressure. The pressures in the heart are occasionally used by doctors as a substitute for the pressures in the lungs, but these tests typically lack sensitivity and repeatability.

For more than a decade, scientists have been actively looking for new, less invasive methods to assess the severity of PAH, the course of the disease, and the effectiveness of treatment. According to study co-author Michael A. Solomon, M.D., M.B.A., who is a member of the NHLBI Cardiovascular Branch and the co-director of the NIH Clinical Center Pulmonary Arterial Hypertension Section, these cell-free DNA analyses represent progress toward that goal.

“Here we’re proposing a one-time test,” says Dr. Sean Agbor-Enoh, Ph.D., co-author of the paper, “where you collect a vial of blood from a patient and use that to predict survival. We’re very encouraged by the early results.”

The research team examined cell-free DNA from blood samples collected from 209 adult patients, mostly women, who had been diagnosed with PAH at two major U.S. medical facilities. At the NIH Clinical Center, the researchers matched the data to cell-free DNA measured from a control group of 48 healthy volunteers without PAH.

They discovered that the amounts of cell-free DNA were raised in patients with PAH and rose proportionately to the disease’s severity. According to the researchers, patients with the highest levels of cell-free DNA had a 3.8 times higher risk of dying or needing a lung transplant than patients with the lowest levels.

Additional examinations of cell-free DNA samples revealed that PAH had an impact on a variety of tissue types, including the heart, blood vessels, adipose tissue, and inflammatory cells flowing through the circulation. Researchers will be able to better pinpoint the precise tissues involved in the PAH disease process thanks to the new blood test. This information could result in the development of new drugs to treat PAH, whose present therapies only slow the disease’s course rather than halting it or reversing it.

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