J Korean Med Sci.  2013 Jun;28(6):959-961. 10.3346/jkms.2013.28.6.959.

A Case of Acute Pulmonary Embolism Associated with Dysplasminogenemia

Affiliations
  • 1Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kjeon@skku.edu
  • 2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 3Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Abstract

The incidence of pulmonary embolism (PE) rises markedly with age, and only a few cases have been reported in younger adults. Thrombophilia has been reported as one of the predisposing factors for PE in younger adults. Here we report an extraordinary case of PE complicated with dysplasminogenemia, a rare genetic disorder resulting in hypercoagulability, in a young male. An 18-yr-old male visited an emergency room in the United States complaining chest discomfort. He was diagnosed as PE with deep vein thrombosis without apparent risk factors. Anticoagulation therapy with warfarin had been initiated and discontinued after 6 months of treatment. After returning to Korea he was tested for thrombophilia which revealed decreased activity of plasminogen and subsequent analysis of PLG gene showed heterozygous Ala620Thr mutation. He was diagnosed with PE complicated with dysplasminogenemia. Life-long anticoagulation therapy was initiated. He is currently under follow-up without clinical events for 2 yr.

Keyword

Deficiency; Diagnosis; Plasminogen; Pulmonary Embolism; Venous Thromboembolism

MeSH Terms

Acute Disease
Adolescent
Anticoagulants/therapeutic use
Conjunctivitis/complications/*diagnosis
Heterozygote
Humans
Male
Plasminogen/*deficiency/genetics
Polymorphism, Single Nucleotide
Pulmonary Embolism/*diagnosis/drug therapy/etiology
Risk Factors
Skin Diseases, Genetic/complications/*diagnosis
Tomography, X-Ray Computed
Venous Thrombosis/etiology
Warfarin/therapeutic use
Anticoagulants
Warfarin
Plasminogen

Figure

  • Fig. 1 Chest computed tomography of the patient. (A, B) CT scan demonstrates acute pulmonary embolism of the left main pulmonary artery (arrow). (C) CT scan reveals parenchymal infarction (arrow) with reactive effusion (arrow head).

  • Fig. 2 The results of nucleotide sequencing analysis showing Ala620Thr mutation (red arrow) in the patient and his mother.


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