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Challenges in managing severe homozygous protein c deficiency: a case report

Eman Almatter1, Sondus Alsharidah, Mona Bourhama

  • 1Department of Hematology, NBK Specialized Children's Hospital, Kuwait, Kuwait.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|November 8, 2024
PubMed

Insights

Severe protein C deficiency poses significant thrombosis risks, complicating management even with current therapies. This case underscores the need for improved treatments for this rare genetic disorder.

Area of Science:

  • Hematology
  • Genetics
  • Internal Medicine

Background:

  • Protein C deficiency is a rare autosomal recessive disorder.
  • It is associated with a high risk of thromboembolic complications.

Observation:

  • This case report details the management of a 23-year-old woman with severe homozygous protein C type 1 deficiency.
  • Her history included misdiagnosed cellulitis, recurrent thrombosis, and vision loss.

Findings:

  • Laboratory workup confirmed severe protein C deficiency.
  • Management utilized fresh frozen plasma (FFP), protein C concentrate, warfarin, and heparin.
  • Challenges included recurrent thrombosis and anaphylaxis to FFP.

Implications:

  • This case highlights diagnostic and management challenges in severe protein C deficiency.
  • Current treatments offer partial control, necessitating further research for safer, more effective therapies.
  • Improved long-term outcomes require the development of novel therapeutic strategies.

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