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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.

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|August 13, 2022
PubMed
Summary
This summary is machine-generated.

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.

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

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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.