Homozygous protein C deficiency with moderately severe clinical symptoms

C. Sharon, M. C. Tirindelli, P. M. Mannucci, A. Tripodi, G. Mariani

Research output: Contribution to journalArticlepeer-review

Abstract

We report a large family with two members homozygotes for protein C deficiency, with activity levels of 5% and 9%. Thirteen additional members were heterozygotes, with protein C activity ranging from 36-66% and equally low levels of protein C antigen. The homozygotes presented with recurrent deep-vein thromboses and pulmonary emboli, but have reached the ages of 26 and 37 years. Hence, protein C levels of 5% appear sufficient to avoid life-threatening clinical symptoms in the neonatal period.

Original languageEnglish
Pages (from-to)483-488
Number of pages6
JournalThrombosis Research
Volume41
Issue number4
DOIs
Publication statusPublished - Feb 15 1986

Keywords

  • protein C
  • pulmonary embolism
  • venous throbosis

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Hematology

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