Genetic Mutation in Pulmonary Hypertension Found with Blood Sample Test

A research collaboration between Intermountain Medical Center and ARUP Laboratories recently led to the development of a new and simple genomic testing method to diagnose a rare form of pulmonary hypertension (PH) caused by a certain gene mutation.

Contrary to current tests that could require invasive lung biopsies to determined if a patient has the mutation in the EIF2AK4 gene, the easy blood sample test will likely result in an increase of patients who are tested for the mutation, and may eventually lead to improvements in patient management.

“The new testing methodology is a model of how genomic testing can and will undoubtedly provide better outcomes for many disorders and lower the cost of healthcare delivery and lower risks to patients,” said Dr. Gregory Elliott, chairman of the department of medicine at Intermountain Medical Center, in an news release. “It involves a rare disease, but this theme will be repeated again and again in so many ways.”

In 2013, Elliot and colleagues at the Intermountain Medical Center collaborated with Hunter Best and his team at ARUP to identify the specific genetic mutation. In the study, they revealed that mutations in EIF2AK4 could lead to the development of rare forms of PH, known as pulmonary capillary hemangiomatosis (PCH) and pulmonary venoocclusive disease (PVOD). 

Although not everyone who has the mutation develops PH, it is a predictor of the disease and could indicate that relatives of a patient with the genetic mutation may also be at risk and should be tested.

PCH is characterized by uncontrolled growth of the capillaries in the lungs. PVOD is defined by the widespread obstruction of the pulmonary veins, which can eventually lead to heart failure. Both forms share symptoms of regular PH forms which suggests that the new testing method may help distinguish between the different forms of PH.

“The discovery will eventually lead to improved care, and believe it or not, lower costs for patients,” Elliott said. “It provides more proof of Intermountain’s hypothesis that better care costs less. The biggest savings will come from accurate diagnosis, which will reduce the use of ineffective and potentially harmful interventions.”