Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome
Copyright policy )Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome
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.
- Icahn School of Medicine at Mount Sinai United States
- Robarts Research Institute Canada
- Western University Canada
- Robarts Research Institute, London, Canada Canada
Adult, Hyperlipoproteinemia Type II, Male, Heterozygote, Humans, Hyperlipoproteinemia Type I, Middle Aged, Polymorphism, Single Nucleotide, Triglycerides
Adult, Hyperlipoproteinemia Type II, Male, Heterozygote, Humans, Hyperlipoproteinemia Type I, Middle Aged, Polymorphism, Single Nucleotide, Triglycerides
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