Detecting familial hypercholesterolemia: The Jack and the Beanstalk principle

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Abstract

We report the case of an 8-year-old girl who was fortuitously diagnosed with familial hypercholesterolemia (FH) while being investigated for obesity. She had a fasting total cholesterol of 11.8 mmol/L and a low-density lipoprotein cholesterol level of 10.3 mmol/L. Her mother and maternal grandmother both had a history of hypercholesterolemia and had developed extensive xanthelasma palpebrarum from early adult life. Reverse cascade testing of first-degree and second-degree relatives diagnosed a further 6 individuals with FH within the family. We discuss the benefits of diagnosing FH in childhood, for the individual and the wider family network ("the beanstalk") and present the rationale for implementing a universal screening program for FH in childhood.

Original languageEnglish
Pages (from-to)575-578
Number of pages4
JournalJournal of Clinical Lipidology
Volume11
Issue number2
DOIs
Publication statusPublished - 16 May 2017

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Hyperlipoproteinemia Type II
Mothers
Hypercholesterolemia
LDL Cholesterol
Fasting
Obesity
Cholesterol

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title = "Detecting familial hypercholesterolemia: The Jack and the Beanstalk principle",
abstract = "We report the case of an 8-year-old girl who was fortuitously diagnosed with familial hypercholesterolemia (FH) while being investigated for obesity. She had a fasting total cholesterol of 11.8 mmol/L and a low-density lipoprotein cholesterol level of 10.3 mmol/L. Her mother and maternal grandmother both had a history of hypercholesterolemia and had developed extensive xanthelasma palpebrarum from early adult life. Reverse cascade testing of first-degree and second-degree relatives diagnosed a further 6 individuals with FH within the family. We discuss the benefits of diagnosing FH in childhood, for the individual and the wider family network ({"}the beanstalk{"}) and present the rationale for implementing a universal screening program for FH in childhood.",
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author = "Martin, {Andrew C.} and Charlotte Allen and Jing Pang and Watts, {Gerald F.}",
note = "Crown Copyright {\circledC} 2017. Published by Elsevier Inc. All rights reserved.",
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T1 - Detecting familial hypercholesterolemia

T2 - The Jack and the Beanstalk principle

AU - Martin, Andrew C.

AU - Allen, Charlotte

AU - Pang, Jing

AU - Watts, Gerald F.

N1 - Crown Copyright © 2017. Published by Elsevier Inc. All rights reserved.

PY - 2017/5/16

Y1 - 2017/5/16

N2 - We report the case of an 8-year-old girl who was fortuitously diagnosed with familial hypercholesterolemia (FH) while being investigated for obesity. She had a fasting total cholesterol of 11.8 mmol/L and a low-density lipoprotein cholesterol level of 10.3 mmol/L. Her mother and maternal grandmother both had a history of hypercholesterolemia and had developed extensive xanthelasma palpebrarum from early adult life. Reverse cascade testing of first-degree and second-degree relatives diagnosed a further 6 individuals with FH within the family. We discuss the benefits of diagnosing FH in childhood, for the individual and the wider family network ("the beanstalk") and present the rationale for implementing a universal screening program for FH in childhood.

AB - We report the case of an 8-year-old girl who was fortuitously diagnosed with familial hypercholesterolemia (FH) while being investigated for obesity. She had a fasting total cholesterol of 11.8 mmol/L and a low-density lipoprotein cholesterol level of 10.3 mmol/L. Her mother and maternal grandmother both had a history of hypercholesterolemia and had developed extensive xanthelasma palpebrarum from early adult life. Reverse cascade testing of first-degree and second-degree relatives diagnosed a further 6 individuals with FH within the family. We discuss the benefits of diagnosing FH in childhood, for the individual and the wider family network ("the beanstalk") and present the rationale for implementing a universal screening program for FH in childhood.

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