Age-specific onset and distribution of the natural anticoagulant deficiency in pediatric thromboembolism

Masako Ichiyama, Shouichi Ohga, Masayuki Ochiai, Koichi Tanaka, Yuka Matsunaga, Takeshi Kusuda, Hirosuke Inoue, Masataka Ishimura, Tomohito Takimoto, Yui Koga, Taeko Hotta, Dongchon Kang, Toshiro Hara

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)


Background:The early diagnosis of inherited thrombophilia in children is challenging because of the rarity and hemostatic maturation.Methods:We explored protein C (PC), protein S (PS), and antithrombin (AT) deficiencies in 306 thromboembolic patients aged ≤20 y using the screening of plasma activity and genetic analysis.Results:Reduced activities were determined in 122 patients (40%). Low PC patients were most frequently found in the lowest age group (0-2 y, 45%), while low PS or low AT patients were found in the highest age group (16-20 y; PS: 30% and AT: 20%). Genetic study was completed in 62 patients having no other causes of thromboembolism. Mutations were determined in 18 patients (8 PC, 8 PS, and 2 AT genes). Six of eight patients with PC gene mutation were found in age 0-2 y (75%), while six of eight patients with PS gene mutation were in 7-20 y. Two AT gene-mutated patients were older than 4 y. Four PC-deficient and two PS-deficient patients carried compound heterozygous mutations. All but one PC gene-mutated patient suffered from intracranial thromboembolism, while PS/AT gene-mutated patients mostly developed extracranial venous thromboembolism.Conclusion:Stroke in low PC infants and deep vein thrombosis in low PS/AT school age children could be targeted for genetic screening of pediatric thrombophilias.

Original languageEnglish
Pages (from-to)81-86
Number of pages6
JournalPediatric Research
Issue number1
Publication statusPublished - Jan 1 2016

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health


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