• Beomki Lee, Suekyeung Kim, Jae Joon Lee, Seon-Hee Heo, Suryeun Chung, Shin Yi Jang, Sun-Hee Kim, Duk-Kyung Kim, and Hee-Jin Kim.
• Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
• Medicine (Baltimore). 2022 Mar 4; 101 (9): e29013e29013.

RationalePlasminogen plays an important role in fibrinolysis and is encoded by the PLG gene. The missense variant PLG Ala620Thr is the major cause of dysplasminogenemia in East Asian countries, including Korea. Although dysplasminogenemia was first reported in a Japanese patient with recurrent venous thromboembolism (VTE), subsequent studies have not demonstrated any clear association between the PLG Ala620Thr variant and the risk of VTE. To the best of our knowledge, this is the first report of a homozygous PLG Ala620Thr variant case from Korea.Patient ConcernsHere, we report a Korean family with PLG Ala620Thr mutation. The proband was a 34-year-old man who presented with multiple thrombotic arterial embolism and cardiac myxoma.InterventionsLaboratory workup, including coagulation profile and PLG gene sequencing, was carried out for the affected family.Diagnosis And OutcomeThe proband carried a heterozygous PLG Ala620Thr variant with decreased plasminogen activity of 65%. His 53-year-old mother, who had no reported history of VTE, was homozygous for the PLG Ala620Thr variant with decreased plasminogen activity of just 25%. Decreased plasminogen activity indicates dysplasminogenemia.LessonsWe believe that this clinically silent homozygous case supports the previous findings that isolated PLG Ala620Thr variant does not confer a significant risk of VTE.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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