Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives.

@article{Sanna2016HomozygousFH,
  title={Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives.},
  author={Claudia Sanna and Xavier St{\'e}phenne and Nicole Revençu and Françoise Smets and Agn{\`e}s Sassolas and Mathilde Di Filippo and Olivier Descamps and Etienne M Sokal},
  journal={Atherosclerosis},
  year={2016},
  volume={247},
  pages={
          97-104
        }
}
Familial hypercholesterolemia (FH) is a co-dominantly inherited disorder of plasma lipoprotein metabolism. The prevalence of heterozygous FH (HeFH) is between 1/500 and 1/200 whereas that of homozygous form (HoFH) is about 1/1,000,000. Diagnosis is based on cutaneous xanthomas and untreated levels of LDL-cholesterol over 500 mg/dl before 10 years of age. Life expectancy, without treatment, does not exceed 20 years of age. The aim of this study is to characterise in details a cohort of 8 HoFH… CONTINUE READING
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