False findings of low protein C activity in two children with Budd-Chiari syndrome and factor V Leiden mutation

Haematologia (Budap). 2002;32(1):11-5. doi: 10.1163/156855902760262718.

Abstract

Two pediatric patients with Budd-Chiari syndrome are reported, who were heterozygous for factor V Leiden mutation. The first patient was falsely diagnosed with type II protein C deficiency, and the second was initially found to have decreased protein C activity based on a protein C clotting assay. Retesting by protein C chromogenic assay indicated that protein C activity was normal in both children. In patients with Budd-Chiari syndrome, low levels of protein C antigen and activity should be interpreted with caution, and within the context of factor V Leiden mutation status, parents' results, severity of liver dysfunction, and the type of protein C assay performed in order to avoid misdiagnosing protein C deficiency.

Publication types

  • Case Reports

MeSH terms

  • Budd-Chiari Syndrome / blood*
  • Budd-Chiari Syndrome / complications
  • Budd-Chiari Syndrome / genetics
  • Child
  • Chromogenic Compounds
  • Factor V / genetics*
  • False Positive Reactions
  • Family Health
  • Heterozygote
  • Humans
  • Liver Failure / etiology
  • Male
  • Protein C / analysis*
  • Protein C Deficiency / diagnosis*

Substances

  • Chromogenic Compounds
  • Protein C
  • factor V Leiden
  • Factor V