A Case of Pulmonary Thromboembolism with JAK2 Mutation.

Kim, Jin Jin; Kwon, Soon Seog; Lee, Hyun Jeong; Lee, Hea Yon; Jeong, Myung Hee; Kim, Yong Hyun

doi:2009.67.4.351

Tuberc Respir Dis > Volume 67(4); 2009 > Article

Case Report

Tuberculosis and Respiratory Diseases 2009;67(4):351-355.
DOI: https://doi.org/10.4046/trd.2009.67.4.351 Published online October 1, 2009.

A Case of Pulmonary Thromboembolism with JAK2 Mutation.

Jin Jin Kim, Soon Seog Kwon, Hyun Jeong Lee, Hea Yon Lee, Myung Hee Jeong, Yong Hyun Kim

¹Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea. kyh30med@catholic.ac.kr
²Department of Diagnostic Radiology, The Catholic University of Korea College of Medicine, Seoul, Korea.

Abstract

The incidence of pulmonary thromboembolism increases with age. The risk factors of pulmonary thromboembolism include surgery, malignancy, obesity, lupus anticoagulants, and vascular conditions such as deep vein thrombosis. Thromboembolism in younger patients or in unusual locations, the possibility of primary thrombophilic conditions should be considered. Primary thrombophilic states include myeloproliferative disorders (MPD). JAK2 V617F mutation is found commonly in patients diagnosed with MPD, in 90~95% of polycythemia vera (PV) and in 50~60% of essential thrombocytosis (ET) patients. Sometimes the JAK2 V617F mutation is found in cases without MPD. The relationship between JAK2 V617F mutation and thrombosis has not been defined. Recently, clinical evidence suggests that this mutation may be variably associated with thrombosis. We present one case of pulmonary thromboembolism in a young patient, who was positive for the JAK2 V617F mutation and did not have MPD.

Key Words: Pulmonary thromboembolism, JAK2 V617F mutation, Young age, Myeloproliferative disorder