Protein C deficiency as the major cause of thrombophilias in childhood. Issue 3 (18th June 2013)

• Record Type: Journal Article
• Authors: Ohga, Shouichi; Ishiguro, Akira; Takahashi, Yukihiro; Shima, Midori; Taki, Masashi; Kaneko, Masatoki; Fukushima, Kotaro; Kang, Dongchon; Hara, Toshiro
• Is Part Of: Pediatrics international. Volume 55:Issue 3(2013)
• Page Start: 267
• Page End: 271
• Publication Date: 2013-06-18
• Subjects: Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.12102
• Languages: English
• ISSNs: 1328-8067

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>Genetic predisposition of thromboembolism depends on the racial background. Factor V Leiden (G1691A) and factor II mutation (G20210A) are the leading causes of inherited thrombophilias in Caucasians, but are not found in Asian ancestries. Protein S (PS), protein C (PC) and antithrombin (AT) activity are reportedly low in 65% of adult Japanese patients with deep vein thrombosis. Approximately half of the patients with each deficiency carry the heterozygous mutation of PS (<italic>PROS1</italic>; 20%), PC (<italic>PROC</italic>; 10%), and AT genes (<italic>SERPINC1</italic>: 5%). Recently, several studies have revealed an outline of inherited thrombophilias in Japanese children. Congenital thrombophilias in 48 patients less than age 20 years consisted of 45% PC deficiency, 15% PS deficiency and 10% AT deficiency, along with other causes. All PS‐ and AT‐deficient patients had a heterozygous mutation of the respective gene. On the other hand, PC‐deficient patients were considered to carry the homozygous or compound heterozygous mutation in 50%, the heterozygous mutation in 25%, and unknown causes in the remaining 25% of patients. Half of unrelated patients with homozygous or compound heterozygous <italic>PROC</italic> mutations carried PC‐nagoya (1362delG), while their parents with its heterozygous mutation were asymptomatic. Most of the PC‐deficient patients developed intracranial lesion and/or purpura fulminans within 2 weeks after birth. Non‐inherited PC deficiency also conveyed thromboembolic events in early infancy. The molecular epidemiology of thrombosis in Asian children would provide a clue to establish the early intervention and optimal anticoagulant therapy in pediatric PC deficiency.</p> </abstract>