Evidence of non-deficient low-density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile.

@article{LestavelDelattre1994EvidenceON,
  title={Evidence of non-deficient low-density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile.},
  author={S Lestavel-Delattre and S Benhamamouch and G Agnani and G{\'e}rald Luc and J. M. Bard and Th Brousseau and Claude Billardon and J. P. Kusnierz and J-L de Gennes and Jean Charles Fruchart},
  journal={Metabolism: clinical and experimental},
  year={1994},
  volume={43 4},
  pages={397-402}
}
For this study, we selected 41 adult patients with the classic clinical diagnosis of heterozygous familial hypercholesterolemia (FH), which is characterized by a low-density lipoprotein (LDL) cholesterol level above the 95th percentile, xanthomas, and/or personal or familial cardiovascular history. We used an indirect immunocytofluorimetric assay to classify these 41 subjects according to LDL receptor function on lymphocytes. We found that LDL receptor activity was normal in nine patients. A… CONTINUE READING