Tuberc Respir Dis.  2009 Oct;67(4):351-355.

A Case of Pulmonary Thromboembolism with JAK2 Mutation

• Kim JJ
• Kwon SS
• Lee HJ
• Lee HY
• Jeong MH
• Kim YH

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.

Keyword

Pulmonary thromboembolism; JAK2 V617F mutation; Young age; Myeloproliferative disorder

MeSH Terms

Anticoagulants
Humans
Incidence
Myeloproliferative Disorders
Obesity
Polycythemia Vera
Pulmonary Embolism
Risk Factors
Thrombocytosis
Thromboembolism
Thrombosis
Venous Thrombosis
Anticoagulants

Figure

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  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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