Chinese Journal of Evidence-Based Pediatrics ›› 2022, Vol. 17 ›› Issue (1): 18-13.

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Oral anticoagulant treatment of severe protein C deficiency with a hereditary compound heterozygous mutation with neonatal fulminant purpura or intracranial hemorrhage as the first manifestation: Two cases report and literature review

SONG Yuqing1, XIAO Juan1, TANG Xiaoyan1,LI Zhuo1, QUAN Meiying1, SUN Zhixing1 ,LI Yunwei1, MA Mingsheng1, ZHAO Yongqiang2   

  1. Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100005, China,1 Department of Pediatrics, 2 Department of Hematology
  • Received:2021-11-09 Revised:2021-12-06 Online:2022-02-25 Published:2022-02-25
  • Contact: XIAO Juan, email: xiaojuan@pumch.cn

Abstract: Background: Given the poor prognosis of severe hereditary protein C deficiency (PCD), most of the children with severe PCD reported in China gave up treatment and died. Objective: We aimed to explore the longterm therapeutic effect of oral anticoagulants on children with PCD. Design: Case report. Methods: We reported 2 cases with severe hereditary PCD, both having compound heterozygous protein C gene (PROC) mutations. PubMed, CNKI and Wanfang databases were consulted from 1981 to 2021 to find out other cases reported in China. And all the cases were analyzed together on diagnosis, treatment and prognosis. Main outcome measures: Thrombotic or bleeding relief. Results: Case 1 first manifested as fulminant purpura, while case 2 first presented intracranial hemorrhage and pulmonary hemorrhage due to the chronic disseminated intravascular coagulation (DIC). Gene sequencing on both cases showed compound heterozygous mutation on PROC gene. Daily fresh frozen plasma (FFP) infusion and low molecular heparin (LWMH) worked as emergency treatment. Vitamin K antagonist (VKA) warfarin and direct oral anticoagulant (DOAC) rivaroxaban were used sequentially as longterm treatment to prevent thrombotic events, and hemorrhage. Both cases survived through the 36 years of followup without obvious side effects. Conclusion: Severe hereditary PCD can have neonate fulminant purpura, as well as intracranial hemorrhage and pulmonary hemorrhage as the initial manifestations. Doctors and parents should choose active treatment instead of giving up. Warfarin and rivaroxaban could be considered as safe and effective longterm alternatives for patients with severe PCD in infancy which could also improve prognosis.

Key words: Protein C deficiency, Neonate, Purpura fulminans, Vitamin K antagonist, Direct oral anticoagulant