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Protein C deficiency

Arun K De1, Somnath Pal2, Santanu Das2

  • 1Department of Pediatric Medicine, Medical College, Kolkata, India ; Anandalok Co-operative Housing Society, Flat No. 2/1, BB-50, Action Area: I B, New Town, Kolkata, 700156 India.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion
|October 22, 2014
PubMed

Insights

A young child experienced leg swelling after an injury, diagnosed as deep vein thrombosis. This was caused by a rare genetic condition known as protein C deficiency.

Area of Science:

  • Pediatric Medicine
  • Hematology
  • Genetics

Background:

  • Deep vein thrombosis (DVT) is uncommon in children, often associated with acquired risk factors.
  • Genetic thrombophilias are increasingly recognized as underlying causes of pediatric DVT.

Observation:

  • A 4-year-old female presented with acute fever, left leg pain, and swelling after minor trauma.
  • Clinical examination revealed signs consistent with lower extremity venous obstruction.

Findings:

  • Diagnostic workup confirmed deep vein thrombosis in the left leg.
  • Genetic testing identified a deficiency in protein C, a key coagulation factor.

Implications:

  • Protein C deficiency is a critical, often undiagnosed, cause of thrombosis in pediatric patients.
  • Early diagnosis and genetic counseling are vital for managing thrombotic events and preventing recurrence in children.
  • Highlights the importance of considering inherited thrombophilias in pediatric cases of unexplained DVT.

Keywords:
Antithrombin IIIDeep vein thrombosisProtein CProtein S

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