A Case of Pediatric Unprovoked Deep Vein Thrombosis due to Combined Hereditary Thrombophilia of Antithrombin III and Protein S Deficiency.
10.15264/cpho.2018.25.2.185
- Author:
Jeong Yeon KIM
1
;
I Seok KANG
;
Hee Jin KIM
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. kis4298@gmail.com
- Publication Type:Case Report
- Keywords:
Deep vein thrombosis;
Hereditary thrombophilia;
Pediatric;
Anticoagulation
- MeSH:
Antithrombin III Deficiency;
Antithrombin III*;
Catheters;
Child;
Heparin;
Humans;
Lower Extremity;
Male;
Mutation, Missense;
Protein S Deficiency*;
Protein S*;
Thrombophilia*;
Venous Thrombosis*
- From:Clinical Pediatric Hematology-Oncology
2018;25(2):185-190
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
