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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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The Inherited Hypercholesterolemias

Wann Jia Loh1, Gerald F Watts2

  • 1Department of Endocrinology, Changi General Hospital, 2 Simei Street 3, Singapore 529889.

Endocrinology and Metabolism Clinics of North America
|August 13, 2022
PubMed

Insights

This review covers inherited hypercholesterolemias, including rare and common forms like familial hypercholesterolemia (FH) and familial combined hyperlipidemia (FCH). It details their prevalence, genetics, and management, offering summarized guidelines.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Metabolic Disorders

Background:

  • Inherited hypercholesterolemias encompass a spectrum of genetic disorders affecting lipid metabolism.
  • These conditions range from rare monogenic diseases like cerebrotendinous xanthomatosis (CTX) to more prevalent polygenic forms such as familial combined hyperlipidemia (FCH).

Purpose of the Study:

  • To provide a comprehensive overview of inherited hypercholesterolemias.
  • To discuss familial hypercholesterolemia (FH) and its mimics, including polygenic hypercholesterolemia (PH) and sitosterolemia.
  • To summarize the prevalence, genetics, and management strategies, including selected guidelines.

Main Methods:

  • Literature review focusing on inherited hypercholesterolemias.
  • Synthesis of information on prevalence, genetic basis, and clinical management.
  • Summary of current guidelines for selected conditions.

Main Results:

  • Familial hypercholesterolemia (FH) and FH-mimics represent significant inherited causes of hypercholesterolemia.
  • Understanding the distinct genetic underpinnings is crucial for accurate diagnosis and effective treatment.
  • Management strategies vary based on the specific genetic defect and clinical presentation.

Conclusions:

  • Inherited hypercholesterolemias require tailored diagnostic and therapeutic approaches.
  • Early identification and management are essential to mitigate cardiovascular risk.
  • This review consolidates key information to guide clinicians in managing these complex lipid disorders.

Keywords:
Familial combined hyperlipidemiaFamilial hypercholesterolemiaInherited hypercholesterolemiaLipoprotein(a)Polygenic hypercholesterolemia

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