#ATS2018 – CTEPH May Be a Genetic Disease, Study Suggests

Chronic thromboembolic pulmonary hypertension (CTEPH) may be an inherited genetic disease, a new study suggests.

The results were recently presented at the American Thoracic Society (ATS) 2018 annual conference May 18-23 in San Diego.

CTEPH, a rare form of pulmonary hypertension, is caused by blood clots that travel to the lungs – typically from the legs – and block pulmonary arteries, which is called a pulmonary embolism. This leads to high blood pressure due to the increased effort from the heart to pump blood, and may result in scarring that can partially or completely block the arteries.

Pulmonary embolisms are generally treated with blood thinners to progressively dissolve the clot and reopen the artery. But in patients with CTEPH, the blood clots don’t break up properly and require additional treatments. The condition may occur in patients with or without a prior history of pulmonary embolism.

“Until now, no genetic link has been identified to indicate CTEPH is hereditary,” Mark Dodson, MD, medical director of the CTEPH program at Intermountain Medical Center in Salt Lake City, said in a press release.

To investigate this possibility, researchers at Intermountain Healthcare reviewed medical records linked to the Utah Population Database to identify all patients with a CTEPH diagnosis. This database contains detailed genealogy information of about four million Utah residents dating back to the Mormon pioneers, which may encompass 15 generations.

In their study, investigators included people with medical data extending back at least three generations. Sixty-six patients met this criterion out of a total of 141 CTEPH cases in Utah.

The team then compared the extent to which CTEPH patients were related, comparing them with matched controls without the condition. They found that the 66 patients were significantly more closely related than the controls, which is unlikely to occur by chance.

“Our research suggests that CTEPH may in fact be a genetic disease, with inherited genetic risk factors passed down from one generation to the next,” Dodson said.

“The most important result of these findings is that we’ve identified a number of large pedigrees with multiple cases of CTEPH in the family,” he added. Family pedigrees are made when analyzing the gene inheritance in genetics studies.

“These pedigrees are ideal tools to now use gene sequencing to identify the genes that cause CTEPH in these families,” Dodson concluded.