Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome

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

doi:10.1016/j.jacl.2016.12.005

Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome

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

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

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 language	English
Pages (from-to)	294-296
Number of pages	3
Journal	Journal of Clinical Lipidology
Volume	11
Issue number	1
DOIs	https://doi.org/10.1016/j.jacl.2016.12.005
State	Published - 1 Jan 2017

Keywords

Chylomicronemia syndrome
Genetics
Heterozygous familial hypercholesterolemia
PCSK9 inhibitors
Triglyceride rich lipoproteins

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10.1016/j.jacl.2016.12.005

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title = "Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome",

abstract = "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.",

keywords = "Chylomicronemia syndrome, Genetics, Heterozygous familial hypercholesterolemia, PCSK9 inhibitors, Triglyceride rich lipoproteins",

author = "Rosenson, {Robert S.} and Najera, {Sherwin D.} and Hegele, {Robert A.}",

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AU - Rosenson, Robert S.

AU - Najera, Sherwin D.

AU - Hegele, Robert A.

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N2 - 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.

AB - 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.

KW - Chylomicronemia syndrome

KW - Genetics

KW - Heterozygous familial hypercholesterolemia

KW - PCSK9 inhibitors

KW - Triglyceride rich lipoproteins

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ER -

Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome

Abstract

Keywords

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