Asymptomatic homozygous protein C deficiency

Armando Tripodi, Franca Franchi, Alessandro Krachmalnicoff, Pier Mannuccio Mannucci

Research output: Contribution to journalArticlepeer-review

Abstract

We report a family in which 2 homozygotes with similarly very low protein C levels have different clinical symptoms. One had recurrent venous thrombosis starting at the age of 28 years, the other is still asymptomatic at 38 years despite exposure to thrombotic risk factors. Our review of 13 additional cases reveals a highly variable phenotypicexpression of homozygous protein C deficiency, which can be subdivided into two groups. In the first group are 8 kindreds in which homozygotes presented at birth with unmeasurable protein C levels and life-threatening thrombosis and 1 kindred in which homozygotes are characterized by very low levels of protein C but delayed onset (10 months of age) of thrombosis. In the second group are 4 kindreds characterized by very low, but measurable, protein C levels in homozygotes who survived beyond the neonatal period into adulthood with histories of moderately severe thrombosis. The presentcase demonstrates that protein C levels lower than 10% are compatible with a negative history for thrombosis, not onlyin the neonatal period but also during adulthood, and suggests that in some homozygotes other factors need to interactfor full clinical penetrance of the defect.

Original languageEnglish
Pages (from-to)152-155
Number of pages4
JournalActa Haematologica
Volume83
Issue number3
DOIs
Publication statusPublished - 1990

Keywords

  • Congenital deficiency
  • Homozygous deficiency
  • Inherited thrombosis
  • Protein C

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'Asymptomatic homozygous protein C deficiency'. Together they form a unique fingerprint.

Cite this