Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome

Robert S. Rosenson, Sherwin D. Najera, Robert A. Hegele

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Heterozygous familial hypercholesterolemia (HeFH) is characterized by a twofold elevation in low-density lipoprotein cholesterol. Severe elevations in triglycerides are an uncommon manifestation. In this case report, we discuss an atypical presentation of the chylomicronemia syndrome in a patient with HeFH. Genetic analyses of the low-density lipoprotein receptor mutation and single nucleotide polymorphisms that elevate triglycerides provide confirmation for this atypical presentation of HeFH.

Original languageEnglish
Pages (from-to)294-296
Number of pages3
JournalJournal of Clinical Lipidology
Issue number1
StatePublished - 1 Jan 2017


  • Chylomicronemia syndrome
  • Genetics
  • Heterozygous familial hypercholesterolemia
  • PCSK9 inhibitors
  • Triglyceride rich lipoproteins


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