Gene Based Diagnostic Tool for Rare Forms of Pulmonary Hypertension Developed by Researchers

Gene Based Diagnostic Tool for Rare Forms of Pulmonary Hypertension Developed by Researchers

A team of pulmonology and genetics specialists at the Intermountain Medical Center and ARUP Laboratories in Salt Lake City, Utah, jointly developed a diagnostic genomic testing method for rare forms of pulmonary hypertension (PH).

Both caused by a mutation in a gene called EIF2AK4, the rare PH diseases are pulmonary capillary hemangiomatosis (PCH) and venoocclusive disease (PVOD). The same research team discovered the genetic mutation three years ago.

The new diagnostic method to identify the EIF2AK4 mutation, available through ARUP Laboratories, uses a blood sample instead of lung biopsy, which is currently the most widely used — but invasive — testing method to pinpoint the genetic mutation.

According to the researchers, the faster, easier new method will improve the accuracy of diagnosis; provide the correct treatment for patients who carry the mutation and suffer with rare forms of pulmonary hypertension; and will increase awareness among healthcare providers and the PH community about the genetic disorder.

“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,” Dr. Gregory Elliott, chairman of the department of medicine at Intermountain Medical Center, said in a news release. “It involves a rare disease, but this theme will be repeated again and again in so many ways.”

In 2013, Elliott and teammates at Intermountain, in collaboration with ARUP molecular genetic expert Hunter Best, PhD, and his team, discovered that mutations in the gene EIF2AK4 led to PCH and PVOD.

Pulmonary capillary haemangiomatosis (PCH) is a rare vascular proliferative condition that can lead to pulmonary hypertension. The disease, characterized by multiple angiomatous lesions composed of proliferating capillary vessels in the lung parenchyma, can progress to pulmonary hypertension.

Pulmonary venoocclusive disease (PVOD) is a rare form of pulmonary hypertension caused by progressive blockage of the small veins in the lungs. The blockage leads to high blood pressures in the arteries of the lungs, which can lead to heart failure.

Not all people with the genetic mutation will develop pulmonary hypertension, but a person is at a higher risk if the mutation runs in the family.

Symptoms for PCH and PVOD are similar to pulmonary hypertension, including both its inherited and idiopathic types, which are fairly common. As a result, the new method is likely an important diagnostic tool to differentiate the diseases in patients.

“Traditionally patients who have this condition have to undergo a lung biopsy to confirm the diagnosis,” said Best, who is the medical director of molecular genetics at ARUP. “Now, we can simply take a blood sample and confirm the diagnosis through genetic testing.”

According to Best, the identification of the EIF2AK4 mutations will eliminate the need for patients to have a lung biopsy, a risky and invasive diagnostic method.

“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.”

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