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KMID : 0387820180250020185
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Clinical Pediatric Hematology-Oncology
2018 Volume.25 No. 2 p.185 ~ p.190
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A Case of Pediatric Unprovoked Deep Vein Thrombosis due to Combined Hereditary Thrombophilia of Antithrombin III and Protein S Deficiency
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Kim Jeong-Yeon
Kang I-Seok
Kim Hee-Jin
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Abstract
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Unprovoked deep vein thrombosis (DVT) is uncommon in pediatric patients and, among those, combined hereditary thrombophilia is particularly rare. We present a 9-year-old Korean boy who developed lower extremity pain with swelling, and was diagnosed with unprovoked DVT due to hereditary (combined hereditary thrombophilia). Coagulation test revealed antithrombin III and protein S deficiency. The genetic work up confirmed the first case of combined antithrombin III deficiency and protein S deficiency by SERPINC1 heterozygous termination mutation [c.685C＞T (p.Arg229*)] and PROS1 heterozygous missense mutation [c.1597G＞A (p.Val533Met)]. He was treated with continuous heparin and catheter intervention but those were ineffective or transiently effective. His DVT gradually improved only after prolonged anticoagulation.
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KEYWORD
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Deep vein thrombosis, Hereditary thrombophilia, Pediatric, Anticoagulation
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