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Kim, Kwon, Lee, Lee, Jeong, and Kim: A Case of Pulmonary Thromboembolism with JAK2 Mutation
Case Report
Tuberculosis and Respiratory Diseases

Tuberculosis and Respiratory Diseases 2009; 67(4): 351-355.

Published online: 31 October 2009

DOI: https://doi.org/10.4046/trd.2009.67.4.351

A Case of Pulmonary Thromboembolism with JAK2 Mutation

Jin-Jin Kim, M.D.1, Soon-Seog Kwon, M.D.1, Hyun-Jeong Lee, M.D.1, Hea-Yon Lee, M.D.1, Myung-Hee Jeong, M.D.2, Yong-Hyun Kim, M.D.1

1Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea.

2Department of Diagnostic Radiology, The Catholic University of Korea College of Medicine, Seoul, Korea.

Address for correspondence: Yong-Hyun Kim, M.D. Department of Internal Medicine, Holy Family Hospital, The Catholic University of Korea College of Medicine, 2, Sosadong, Wonmi-gu, Bucheon 420-717, Korea. Phone: 82-32-340-2114, Fax: 82-32-340-2255, kyh30med@catholic.ac.kr

Received 29 July 2009       Accepted 31 August 2009

Copyright©2009. The Korean Academy of Tuberculosis and Respiratory Diseases. All rights reserved.

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.

Keywords: Pulmonary thromboembolism, JAK2 V617F mutation, Young age, Myeloproliferative disorder

Figures and Tables

Figure 1
Chest CT scan shows multiple low densities in both pulmonary arteries (A), and in lobar arteries (B).
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Figure 2
Doppler ultrasonogram shows echogenic lesion (arrow) in Rt. femoral vein (A) and no blood flow in same lesion (B).
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