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[Hereditary protein C deficiency presenting with predominant hemorrhagic symptoms: a case report and literature
1State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.
Insights
Hereditary protein C deficiency can manifest as recurrent muscle bleeding, not just neonatal purpura fulminans. Early diagnosis and treatment are crucial for managing this rare bleeding disorder.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Hereditary protein C deficiency is a rare genetic disorder affecting blood coagulation.
- Clinical presentation is highly variable, ranging from neonatal purpura fulminans to milder bleeding tendencies.
Purpose of the Study:
- To report a case of severe hereditary protein C deficiency presenting with recurrent muscle bleeding.
- To highlight the diagnostic and therapeutic challenges in such cases.
- To contribute to the understanding of the heterogeneous clinical spectrum of this disorder.
Main Methods:
- Case report of a 2-year-old girl with severe hereditary protein C deficiency.
- Detailed clinical presentation, diagnostic workup including laboratory tests and genetic analysis (PROC gene mutations).
- Review of relevant medical literature.
Main Results:
- The patient presented with recurrent muscle hematomas and intracranial hemorrhage.
- Laboratory findings included decreased protein C activity, fibrinogen, and factor XIII, with elevated FDP and D-dimer, indicating disseminated intravascular coagulation (DIC).
- Genetic testing revealed compound heterozygous mutations in the PROC gene.
Conclusions:
- Hereditary protein C deficiency can present with recurrent bleeding as a primary manifestation.
- Prompt diagnosis and management, including anticoagulation and supportive therapy, are essential for improving outcomes.
- The heterogeneity of clinical presentations underscores the importance of considering this diagnosis in patients with unexplained bleeding episodes.
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.
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