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Hypercholesterolemia

Last reviewed: 1 Nov 2024
Last updated: 05 Dec 2023

Summary

Definition

History and exam

Key diagnostic factors

  • family history of early onset of coronary heart disease or dyslipidemia in first-degree relatives
  • history of cardiovascular disease
  • consumption of saturated fats and trans-fatty acids
  • excess body weight (especially abdominal obesity)
  • xanthelasmas
  • tendinous xanthomas
Full details

Other diagnostic factors

  • arcus cornealis with onset before the age of 45 years
  • tuberous xanthomas
Full details

Risk factors

  • insulin resistance and type 2 diabetes mellitus
  • excess body weight (body mass index >25 kg/m²)
  • cigarette smoking
  • hypothyroidism
  • cholestatic liver disease
  • nephrotic syndrome
  • use of certain medications
Full details

Diagnostic tests

1st tests to order

  • lipid profile
  • serum thyroid-stimulating hormone (TSH)
  • lipoprotein(a)
Full details

Tests to consider

  • genetic testing
Full details

Treatment algorithm

ACUTE

with clinical ASCVD: very high risk

with clinical ASCVD: not very high risk and age ≤75 years

with clinical ASCVD: not very high risk and age >75 years

without clinical ASCVD: LDL-C ≥190 mg/dL without diabetes mellitus (age 20-75 years)

without clinical ASCVD: LDL-C ≥160 mg/dL without diabetes mellitus (age 20-39 years)

without clinical ASCVD: LDL-C 70-189 mg/dL without diabetes mellitus (age 40-75 years)

without clinical ASCVD: LDL-C 70-189 mg/dL without diabetes mellitus (age >75 years)

without clinical ASCVD: with diabetes mellitus and risk enhancers (age 20-39 years)

without clinical ASCVD: with diabetes mellitus, 10-year ASCVD predicted risk <7.5% and no risk factors (age 40-75 years)

without clinical ASCVD: with diabetes mellitus, 10-year ASCVD predicted risk ≥7.5% and risk enhancers (age 40-75 years)

without clinical ASCVD: with diabetes mellitus (age >75 years)

ONGOING

severe familial hypercholesterolemia

Contributors

Authors

Thorsten Leucker, MD, PhD

Assistant Professor of Medicine

Division of Cardiology, Department of Medicine

Johns Hopkins University School of Medicine

Baltimore

MD

Disclosures

TL has received grant funding from Amgen, Merck, and the American Heart Association.

Richard A. Ferraro, MD

Cardiovascular Disease Fellow

Division of Cardiology, Department of Medicine

Johns Hopkins University School of Medicine

Baltimore

MD

Disclosures

RAF declares that he has no competing interests.

Acknowledgements

Dr Thorsten Leucker and Dr Richard A. Ferraro would like to gratefully acknowledge Dr Seth S. Martin, Dr Rhanderson Cardoso, Dr Raul D. Santos, Dr Martin Engelhardt, and Dr Michael Miller, the previous contributors to this topic.

Disclosures

SSM has received honoraria from the American College of Cardiology for educational activities. SSM is listed as a co-inventor on a pending patent filed by Johns Hopkins University for a novel method of LDL-cholesterol estimation. SSM received a charitable gift for the VLDL big data project from the David and June Trone Family Foundation, and has also received research support from the PJ Schafer Cardiovascular Research Fund, American Heart Association, Aetna Foundation, iHealth, Stanford MedX/Nokia, Google, and Apple. SSM has acted as a consultant for Abbott Nutrition, Pressed Juicery, Quest Diagnostics, Sanofi/Regeneron, Amgen, Novo Nordisk, Esperian, Akcea, and the Pew Institute. RC declares that he has no competing interests. RDS has received honoraria for consulting, speaker activities and research from Astra Zeneca, Amgen, Akcea, Biolab, Esperion, Kowa, Pfizer, Merck, Novo-Nordisk, and Sanofi/Regeneron. ME declares that he has no competing interests. MM has received research grant support and honoraria for lectures from AstraZeneca, Merck-Schering Plough, and Pfizer. MM has received consulting fees from Pfizer, Merck-Schering Plough, and Roche.

Peer reviewers

Mahi Lakshmi Ashwath, MD

Assistant Professor of Medicine

Noninvasive Cardiology

MetroHealth Campus

Case Western Reserve University

Cleveland

OH

Disclosures

MLA declares that he has no competing interests.

Deepak Bhatnagar, TD MBBS PhD FRCP FRCPI FRCPath

Consultant/Senior Lecturer in Diabetes & Metabolism

The Royal Oldham Hospital & University of Manchester Cardiovascular Research Group Diabetes Centre

Royal Oldham Hospital

Oldham

UK

Disclosures

DB declares that he has no competing interests.

  • Hypercholesterolemia images
  • Differentials

    • Obstructive liver disease
    • Nephrotic syndrome
    • Chronic renal insufficiency
    More Differentials
  • Guidelines

    • Consensus statement on homozygous familial hypercholesterolaemia: new treatments and clinical guidance
    • Cardiovascular disease: risk assessment and reduction, including lipid modification
    More Guidelines
  • Patient information

    High cholesterol

    High cholesterol: questions to ask your doctor

    More Patient information
  • Calculators

    Cardiovascular Risk Assessment in Men (10-year, patient information, Framingham 2008)

    Cardiovascular Risk Assessment in Women (10-year, patient information, Framingham 2008)

    More Calculators
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