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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Severe homozygous protein C deficiency
The Journal of Pediatrics
|September 1, 1984
Summary
Infants with severe protein C deficiency can develop purpura fulminans. Factor IX concentrates rich in protein C effectively managed the condition, preventing complications from plasma infusions.
Area of Science:
- Hematology
- Pediatric Medicine
- Genetics
Background:
- Purpura fulminans is a rare, life-threatening condition often associated with severe infections or inherited thrombotic disorders.
- Severe homozygous protein C deficiency is a critical inherited thrombophilia presenting in early infancy.
- Early diagnosis and management are crucial for improving outcomes in affected neonates and infants.
Observation:
- A neonate presented with recurrent episodes of purpura fulminans within the first year of life.
- Laboratory investigations revealed a severe homozygous deficiency of protein C (activity <1% of normal).
- Initial treatment with fresh frozen plasma (FFP) controlled purpura fulminans but led to hyperproteinemia complications.
Findings:
- Substitution therapy with FFP, while effective for purpura fulminans, posed risks due to high protein load.
- Transitioning to factor IX concentrates enriched with protein C offered a more targeted therapeutic approach.
- This strategy successfully maintained adequate protein C levels and prevented recurrence of purpura fulminans and associated complications.
Implications:
- Factor IX concentrates offer a viable alternative to FFP for managing severe protein C deficiency, mitigating risks of hyperproteinemia.
- This case highlights the importance of tailored therapeutic strategies in inherited thrombophilias.
- Optimized protein C replacement therapy can lead to long-term asymptomatic disease control in infants.
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