Clin Pediatr Hematol Oncol.  2018 Oct;25(2):185-190. 10.15264/cpho.2018.25.2.185.

A Case of Pediatric Unprovoked Deep Vein Thrombosis due to Combined Hereditary Thrombophilia of Antithrombin III and Protein S Deficiency

• Kim JY
• Kang IS
• Kim HJ

• KMID: 2435413
• DOI: http://doi.org/10.15264/cpho.2018.25.2.185

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.

Keyword

Deep vein thrombosis; Hereditary thrombophilia; Pediatric; Anticoagulation

MeSH Terms

Antithrombin III Deficiency
Antithrombin III*
Catheters
Child
Heparin
Humans
Lower Extremity
Male
Mutation, Missense
Protein S Deficiency*
Protein S*
Thrombophilia*
Venous Thrombosis*
Antithrombin III
Heparin
Protein S