Analysis of Family Histories Suggests Shared Genetic Risk for Chronic Thromboembolic Pulmonary Hypertension and Venous Thromboembolism

Overview

Journal Pulm Circ

Publisher Wiley

Specialty Pulmonary Medicine

Date 2022 Dec 15

PMID 36518235

Authors

Mark W Dodson

Meghan M Cirulis

C Gregory Elliott

Affiliations

Soon will be listed here.

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.

Citing Articles

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

Dodson M, Cirulis M, Elliott C Pulm Circ. 2022; 12(4):e12170.

PMID: 36518235 PMC: 9743656. DOI: 10.1002/pul2.12170.

References

Lang I, Klepetko W, Pabinger I . No increased prevalence of the factor V Leiden mutation in chronic major vessel thromboembolic pulmonary hypertension (CTEPH). Thromb Haemost. 1996; 76(3):476-7. View

Ende-Verhaar Y, Cannegieter S, Vonk Noordegraaf A, Delcroix M, Pruszczyk P, Mairuhu A . Incidence of chronic thromboembolic pulmonary hypertension after acute pulmonary embolism: a contemporary view of the published literature. Eur Respir J. 2017; 49(2). DOI: 10.1183/13993003.01792-2016. View

Weingarz L, Schwonberg J, Schindewolf M, Hecking C, Wolf Z, Erbe M . Prevalence of thrombophilia according to age at the first manifestation of venous thromboembolism: results from the MAISTHRO registry. Br J Haematol. 2013; 163(5):655-65. DOI: 10.1111/bjh.12575. View

Bezemer I, van der Meer F, Eikenboom J, Rosendaal F, Doggen C . The value of family history as a risk indicator for venous thrombosis. Arch Intern Med. 2009; 169(6):610-5. DOI: 10.1001/archinternmed.2008.589. View

Larsen T, Sorensen H, Skytthe A, Johnsen S, Vaupel J, Christensen K . Major genetic susceptibility for venous thromboembolism in men: a study of Danish twins. Epidemiology. 2003; 14(3):328-32. View

Dodson M, Cirulis M, Elliott C . Analysis of family histories suggests shared genetic risk for chronic thromboembolic pulmonary hypertension and venous thromboembolism. Pulm Circ. 2022; 12(4):e12170. PMC: 9743656. DOI: 10.1002/pul2.12170. View

Zoller B, Li X, Sundquist J, Sundquist K . Age- and gender-specific familial risks for venous thromboembolism: a nationwide epidemiological study based on hospitalizations in Sweden. Circulation. 2011; 124(9):1012-20. DOI: 10.1161/CIRCULATIONAHA.110.965020. View

Wolf M, Boyer-Neumann C, Parent F, Eschwege V, Jaillet H, Meyer D . Thrombotic risk factors in pulmonary hypertension. Eur Respir J. 2000; 15(2):395-9. DOI: 10.1034/j.1399-3003.2000.15b28.x. View

Souto J, Almasy L, Borrell M, Blanco-Vaca F, Mateo J, Soria J . Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia. Am J Hum Genet. 2000; 67(6):1452-9. PMC: 1287922. DOI: 10.1086/316903. View

10.

Morange P, Suchon P, Tregouet D . Genetics of Venous Thrombosis: update in 2015. Thromb Haemost. 2015; 114(5):910-9. DOI: 10.1160/TH15-05-0410. View

11.

Zoller B, Ohlsson H, Sundquist J, Sundquist K . Family history of venous thromboembolism is a risk factor for venous thromboembolism in combined oral contraceptive users: a nationwide case-control study. Thromb J. 2015; 13:34. PMC: 4617955. DOI: 10.1186/s12959-015-0065-x. View

12.

Heit J, Phelps M, Ward S, Slusser J, Petterson T, de Andrade M . Familial segregation of venous thromboembolism. J Thromb Haemost. 2004; 2(5):731-6. DOI: 10.1111/j.1538-7933.2004.00660.x. View

13.

Suntharalingam J, Goldsmith K, van Marion V, Long L, Treacy C, Dudbridge F . Fibrinogen Aalpha Thr312Ala polymorphism is associated with chronic thromboembolic pulmonary hypertension. Eur Respir J. 2007; 31(4):736-41. DOI: 10.1183/09031936.00055107. View

14.

Desmarais J, Elliott C . Familial Chronic Thromboembolic Pulmonary Hypertension. Chest. 2016; 149(4):e99-e101. DOI: 10.1016/j.chest.2015.09.017. View

15.

Dodson M, Sumner K, Carlsen J, Cirulis M, Wilson E, Gadre A . The Factor V Leiden variant and risk of chronic thromboembolic pulmonary hypertension. Eur Respir J. 2020; 56(4). DOI: 10.1183/13993003.00774-2020. View

16.

Dodson M, Cirulis M, Li H, Yue Z, Brown L, Elliott C . Frequency of Thrombotic Risk Factors in Patients with Chronic Thromboembolic Pulmonary Hypertension and Acute Pulmonary Embolism: A Case-Control Study. Clin Appl Thromb Hemost. 2022; 28:10760296211073277. PMC: 8744163. DOI: 10.1177/10760296211073277. View

17.

Mannucci P, Franchini M . Classic thrombophilic gene variants. Thromb Haemost. 2015; 114(5):885-9. DOI: 10.1160/TH15-02-0141. View

18.

Rosendaal F . Venous thrombosis: a multicausal disease. Lancet. 1999; 353(9159):1167-73. DOI: 10.1016/s0140-6736(98)10266-0. View

19.

Lang I, Pesavento R, Bonderman D, Yuan J . Risk factors and basic mechanisms of chronic thromboembolic pulmonary hypertension: a current understanding. Eur Respir J. 2012; 41(2):462-8. DOI: 10.1183/09031936.00049312. View

20.

Couturaud F, Leroyer C, Tromeur C, Julian J, Kahn S, Ginsberg J . Factors that predict thrombosis in relatives of patients with venous thromboembolism. Blood. 2014; 124(13):2124-30. PMC: 4186541. DOI: 10.1182/blood-2014-03-559757. View