Difference in absolute risk of venous and arterial thrombosis between familial protein S deficiency type I and type III. Results from a family cohort study to assess the clinical impact of a laboratory test-based classification

Br J Haematol. 2005 Mar;128(5):703-10. doi: 10.1111/j.1365-2141.2005.05371.x.

Abstract

Hereditary protein S (PS) deficiency type I is an established risk factor for venous thromboembolism. Contradictionary data on type III deficiency suggests a difference in risk between both types. We studied 156 first degree relatives (90% of eligible relatives) from type I deficient probands (cohort 1) and 268 (88%) from type III deficient probands (cohort 2) to determine the absolute risk of venous and arterial thromboembolism. Annual incidences of venous thromboembolism were 1.47 and 0.17 per 100 person-years in deficient and non-deficient relatives in cohort 1 [relative risk (RR) 8.9; 95% confidence interval (CI) 2.6-30.0], and 0.27 vs. 0.24 in cohort 2 (RR 0.9; 95% CI 0.4-2.2). Type III deficiency was demonstrated in 20% of non-deficient relatives in cohort 1 and the annual incidence in this subgroup was 0.70 (RR 4.3;0.95-19.0). The cut-off level of free PS to identify subjects at risk was 30%, the lower limit of its normal range (65%). PS deficiency was not a risk factor for arterial thromboembolism. In conclusion, type I deficiency was found to be a strong risk factor for venous thromboembolism, in contrast with type III deficiency. This was because of lower free PS levels in type I deficient subjects and a free PS cut-off level far below the lower limit of its normal range.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Arterial Occlusive Diseases / blood
  • Arterial Occlusive Diseases / etiology*
  • Arterial Occlusive Diseases / genetics
  • Cohort Studies
  • Female
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Proportional Hazards Models
  • Protein S / analysis
  • Protein S Deficiency / classification*
  • Protein S Deficiency / complications*
  • Protein S Deficiency / genetics
  • Risk
  • Statistics, Nonparametric
  • Thromboembolism / blood
  • Thromboembolism / etiology*
  • Thromboembolism / genetics
  • Venous Thrombosis / blood
  • Venous Thrombosis / etiology*
  • Venous Thrombosis / genetics

Substances

  • Protein S