Analysis of family histories suggests shared genetic risk for chronic thromboembolic pulmonary hypertension and venous thromboembolism

Mark W Dodson; Meghan M Cirulis; C Gregory Elliott

doi:10.1002/pul2.12170

Analysis of family histories suggests shared genetic risk for chronic thromboembolic pulmonary hypertension and venous thromboembolism

Pulm Circ. 2022 Oct 1;12(4):e12170. doi: 10.1002/pul2.12170. eCollection 2022 Oct.

Authors

Mark W Dodson^{1

2}, Meghan M Cirulis^{1

2}, C Gregory Elliott^{1

2}

Affiliations

¹ Department of Pulmonary and Critical Care Medicine Intermountain Medical Center Murray Utah USA.
² Division of Pulmonary and Critical Care Medicine University of Utah Salt Lake City Utah USA.

Abstract

Chronic thromboembolic pulmonary hypertension (CTEPH) and acute pulmonary embolism (PE) are related phenotypes, however, previous reports have suggested that genetic risk factors for CTEPH and PE differ. Here we report that a family history of VTE is equally frequent in individuals with CTEPH and PE, suggesting that shared genetic variants may influence risk of both phenotypes. We also provide the first estimate of the frequency of familial CTEPH, which we identified in 2.2% of CTEPH patients in our cohort.

Keywords: genetic epidemiology; pulmonary embolism; pulmonary hypertension.