PMID: 7580547Oct 7, 1995Paper

Survival in families with hereditary protein C deficiency, 1820 to 1993

BMJ : British Medical Journal
C F AllaartE Briët

Abstract

To establish the survival of individuals heterozygous for hereditary protein C deficiency, who have an increased risk of venous thrombotic events, and to compare it with the survival of the general population. Retrospective study in pedigrees of 23 families with hereditary protein C deficiency for period 1820 and 1993. 23 completed family trees of 24 probands from various parts of the Netherlands with symptoms of protein C deficiency. All 736 members of the 23 families with a 50% or 100% probability of being (or having been) heterozygous for the genetic defect on the basis of DNA analysis or their place in the pedigrees, following mendelian rules. Observed mortality compared with the mortality of the general Dutch population; the standardised mortality ratio was calculated by dividing the observed mortality by the expected mortality. No excess mortality was found in the 206 proved heterozygous individuals and "obligatory transmitters" (those who have definitely passed on the deficiency) (standardised mortality ratio 0.95 (95% confidence interval 0.5 to 1.2)) or in the 530 family members with a 50% genetic probability of heterozygosity (1.10 (0.9 to 1.3)). Heterozygous individuals with hereditary protein C deficiency type I have...Continue Reading

Citations

May 22, 1997·The New England Journal of Medicine·B S Ibrahim
Nov 28, 2012·Thrombosis and Haemostasis·Sylvia Reitter-PfoertnerIngrid Pabinger
Aug 31, 2004·Journal of Thrombosis and Haemostasis : JTH·C Y VossenF R Rosendaal
Dec 2, 2011·Journal of Thrombosis and Haemostasis : JTH·I PabingerF R Rosendaal
Jan 26, 2017·European Journal of Epidemiology·Jan P Vandenbroucke
Oct 29, 2000·British Journal of Haematology·R LensenR Bertina

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