Cystic fibrosis heterozygotes do not have increased platelet activation

Inge Tarnow, University of Copenhagen
Alan D. Michelson, University of Massachusetts Memorial Medical Center
Andrew L. Frelinger III, University of Massachusetts Medical School
Matthew Dean Linden, University of Massachusetts Medical School
YouFu Li, University of Massachusetts Medical School
Marsha L. Fox, University of Massachusetts Medical School
Marc R. Barnard, University of Massachusetts Medical School
Brian P. O'Sullivan, University of Massachusetts Memorial Medical Center

Abstract

INTRODUCTION: We have previously demonstrated platelet hyperreactivity in cystic fibrosis (CF) patients. Carriers of one CF mutation (heterozygotes) have been shown to have abnormalities related to the presence of only one-half the normal amount of CF transmembrane conductance regulator protein. Platelet hyperreactivity in CF heterozygotes would be an important cardiovascular risk factor, since approximately 1 in 25 Caucasians is a CF carrier.

MATERIALS AND METHODS: We used highly sensitive assays of platelet activation to assess the difference between 16 CF heterozygotes and 16 age- and sex-matched healthy controls without CF mutations.

RESULTS: We found no difference in platelet activation between CF heterozygotes and controls.

CONCLUSIONS: The 50% reduction in the CF transmembrane conductance regulator protein in heterozygotes is insufficient to cause platelet activation.