| Autor: |
F, Allaart C, R, Rosendaal F, M, Noteboom W, P, Vandenbroucke J, E, Briët |
| Zdroj: |
BMJ (British Medical Journal); October 1995, Vol. 311 Issue: 7010 p910-3, 4p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
