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Life Course Approach to Familial Hypercholesterolemia

  • 01-12-2025
  • Hypercholesterolemia
  • Global Cardiovascular Health (L Sperling and D Gaita, Section Editors)
Published in:

Abstract

Purpose of the Review

To describe recent advances in knowledge of familial hypercholesterolemia (FH).

Recent Findings

There has been a significant advance in understanding the natural history, risk stratification, and therapy of FH.

Summary

Heterozygous FH affects approximately 1 in every 310 individuals worldwide and is associated with an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Early diagnosis is crucial and relies on clinical criteria and/or genetic testing. Timely initiation of treatment in childhood is imperative, as cumulative exposure to elevated LDL-cholesterol is directly correlated with the onset and progression of ASCVD. Several ASCVD risk prediction models have been developed specifically for adults with FH. Coronary artery calcium scoring is a valuable adjunct to cardiovascular risk stratification in this population. Pharmacological management of FH typically involves statins and ezetimibe, as well as PCSK9 inhibitors. In the elderly, therapeutic strategies must account for age-related factors, such as frailty and comorbidities.
Title
Life Course Approach to Familial Hypercholesterolemia
Authors
Marcio H. Miname
Fernanda Del Castanhel
Marjorie H. Mizuta
Raul D. Santos
Publication date
01-12-2025
Publisher
Springer US
Published in
Current Cardiology Reports / Issue 1/2025
Print ISSN: 1523-3782
Electronic ISSN: 1534-3170
DOI
https://doi.org/10.1007/s11886-025-02328-2
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Independent Medical Education Grant:
  • Bayer HealthCare Pharmaceuticals Inc.
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Abstract graphic of layered, concentric circular shapes in bright green, pink, blue, and purple on a dark blue background. The rings and segments form a complex radial pattern without text/© Springer Health+ IME