Homozygous Protein C Deficiency Manifested by Massive Venous Thrombosis in the Newborn

Uri Seligsohn, Anna Berger, Martha Abend, Lisa Rubin, Dina Attias, Ariela Zivelin, Samuel I. Rapaport

Research output: Contribution to journalArticlepeer-review

Abstract

We studied a family in which two infants had died with massive venous thrombosis shortly after birth. Protein C antigen was undetectable by immunologic assays of plasma available from one infant. (Protein C is a potent naturally occurring anticoagulant that inactivates activated coagulation factors V and VIII.) The parents, who were first cousins, both had partial protein C deficiency. Reduced protein C levels were also observed in 12 of 25 additional family members. None of the partially deficient family members (age range, 4 to 70 years) had thrombotic episodes. Our data support the view that hereditary protein C deficiency is an autosomal disorder in which the homozygous state may be manifested by the virtual absence of plasma protein C and by fatal thrombosis in the neonatal period. (N Engl J Med 1984; 310:559–62.).

Original languageEnglish
Pages (from-to)559-562
Number of pages4
JournalNew England Journal of Medicine
Volume310
Issue number9
DOIs
StatePublished - 1 Mar 1984
Externally publishedYes

ASJC Scopus subject areas

  • Medicine (all)

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