[Hereditary protein C deficiency presenting with predominant hemorrhagic symptoms: a case report and literature review].

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.