OBJECTIVES: 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. DESIGN: Retrospective study in pedigrees of 23 families with hereditary protein C deficiency for period 1820 and 1993. SETTING: 23 completed family trees of 24 probands from various parts of the Netherlands with symptoms of protein C deficiency. SUBJECTS: 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. MAIN OUTCOME MEASURES: 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. RESULTS: 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)). CONCLUSION: Heterozygous individuals with hereditary protein C deficiency type I have normal survival compared with the general population. Prophylactic anticoagulant treatment may prevent thrombotic events in heterozygous individuals but may not be expected to improve their survival.
OBJECTIVES: 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. DESIGN: Retrospective study in pedigrees of 23 families with hereditary protein C deficiency for period 1820 and 1993. SETTING: 23 completed family trees of 24 probands from various parts of the Netherlands with symptoms of protein C deficiency. SUBJECTS: 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. MAIN OUTCOME MEASURES: 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. RESULTS: 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)). CONCLUSION: Heterozygous individuals with hereditary protein C deficiency type I have normal survival compared with the general population. Prophylactic anticoagulant treatment may prevent thrombotic events in heterozygous individuals but may not be expected to improve their survival.
Authors: F R Rosendaal; H Heijboer; E Briët; H R Büller; D P Brandjes; K de Bruin; D W Hommes; J P Vandenbroucke Journal: Lancet Date: 1991-02-02 Impact factor: 79.321
Authors: Kathleen E Brummel-Ziedins; Thomas Orfeo; Peter W Callas; Matthew Gissel; Kenneth G Mann; Edwin G Bovill Journal: PLoS One Date: 2012-09-12 Impact factor: 3.240