Hereditary protein C deficiency presenting with predominant hemorrhagic symptoms: a case report and literature review
10.3760/cma.j.cn121090-20241129-00494
- VernacularTitle:以出血为主要表现的遗传性蛋白C缺乏症1例并文献复习
- Author:
Dandan YU
1
;
Xinyue DAI
;
Wei LIU
;
Yuhua WANG
;
Renchi YANG
;
Lei ZHANG
;
Feng XUE
Author Information
1. 中国医学科学院血液病医院（中国医学科学院血液学研究所），血液与健康全国重点实验室，国家血液系统疾病临床医学研究中心，细胞生态海河实验室，天津市血液病基因治疗研究重点实验室，中国医学科学院血液病基因治疗重点实验室，天津 300020
- Publication Type:Journal Article
- Keywords:
Hereditary protein C deficiency;
Disseminated intravascular coagulation;
Anticoagulation
- From:
Chinese Journal of Hematology
2024;45(S1):1-4
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To enhance the understanding of hereditary protein C deficiency.Methods:A case of a child with severe hereditary protein C deficiency, presenting with recurrent muscle bleeding as the primary clinical manifestation, was reported. The diagnostic and treatment were detailed, and relevant literature was reviewed.Results:The patient, a 2-year-old girl, was admitted with "recurrent muscle hematomas for more than 2 years and intracranial hemorrhage for 3 months." Ecchymosis was observed on the skin of the left calf, with localized warmth detected on palpation. Muscle strength and tone in both lower limbs were within normal limits. The left thigh circumference measured 35.6 cm, compared to 29 cm on the right. Laboratory tests showed decreased fibrinogen, coagulation factor XIII activity, protein C activity, and significantly elevated fibrin degradation products (FDP) and D-dimer levels. Genetic testing identified compound heterozygous mutations in the PROC gene: c.565 (exon 7) C>T and c.983_988 (exon 7) del GCGAGC. The patient was diagnosed with hereditary protein C deficiency and disseminated intravascular coagulation (DIC). Treatment with fibrinogen supplementation, fresh frozen plasma, and anticoagulation therapy led to clinical improvement.Conclusion:The clinical manifestations of hereditary protein C deficiency are highly heterogeneous. While neonatal purpura fulminans is a common presentation, recurrent bleeding can also serve as a primary clinical manifestation.
