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


Özçay F., ÖZBEK N. Y.

Haematologia, cilt.32, sa.1, ss.11-15, 2002 (Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 1
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1163/156855902760262718
  • Dergi Adı: Haematologia
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.11-15
  • Anahtar Kelimeler: Budd-Chiari syndrome, factor V Leiden mutation, protein C
  • Sağlık Bilimleri Üniversitesi Adresli: Hayır

Özet

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.