When Cholesterol Can Kill at 20

Q: What is the clinical evidence from this study?

Study design: Editorial. Population: Homozygous familial hypercholesterolemia (HoFH) and premature myocardial infarction (n=1). Intervention: Multimodality imaging, surgical repair, and advanced lipid-lowering therapies.

Q: What does this research mean for the field?

Homozygous familial hypercholesterolemia causes aggressive, premature multi-vessel coronary and aortic atherosclerosis that often fails to respond to conventional LDL receptor-dependent therapies and requires receptor-independent treatments and family cascade screening. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Karl Chan; Louis Chun-wai Choi; Kevin Ka‐Ho Kam

doi:10.1016/j.jaccas.2026.109787

September 1, 2026JACC Case ReportsOpen Access

When Cholesterol Can Kill at 20

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Key result

Homozygous FH can cause severe atherosclerosis and MI by age 20, demanding early multimodality assessment.

n=1

Graphical abstract published by JACC Case Reports — Graphical abstract · Published by JACC Case Reports · CC BY-NC-ND

Why the study?

Homozygous familial hypercholesterolemia (HoFH) is a rare, underrecognized systemic vascular disease causing aggressive atherosclerosis from childhood, with diagnostic and management challenges.

Key Points

Highlight the aggressive presentation, multimodality imaging requirements, and targeted therapeutic strategies for homozygous familial hypercholesterolemia presenting with premature cardiovascular disease.
Analyzed the presentation, diagnostic workup, and clinical course of a 20-year-old male with anterior ST-elevation myocardial infarction and homozygous familial hypercholesterolemia.
Evaluated vascular and valvular pathology using multimodality imaging, including Doppler echocardiography, transthoracic echocardiography, and computed tomography aortography.
Baseline laboratory evaluation demonstrated an LDL-C of 510 mg/dL, which persisted at 249 mg/dL despite maximal oral lipid-lowering pharmacotherapy.
Computed tomography aortography identified anatomically significant supravalvular aortic stenosis with a planimetered area of 1.09 cm 2, alongside a Doppler peak gradient of 43 mm Hg and mean gradient of 12 mm Hg.
Identified critical roles for LDL receptor-independent therapies, including evinacumab (~47%-49% LDL-C reduction vs placebo) and lomitapide (~50% mean LDL-C reduction at 26 weeks).

PICO

P

Population

A 20-year-old man with homozygous familial hypercholesterolemia presenting with anterior STEMI, extensive premature atherosclerosis, and supravalvular aortic stenosis.

I

Intervention / Comparator

Multimodality imaging, surgical repair, and advanced lipid-lowering therapies

Limitations

Most conventional lipid-lowering therapies are less effective in patients with LDL receptor-null variants
Access to advanced therapies (lomitapide, evinacumab) remains inequitable globally
Financial constraints often limit both therapeutic options and family cascade screening

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Implication

Supports HoFH consideration in young MI patients; extends 2023 EAS consensus with imaging and therapy details.

Abstract

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Cite This Study

Chan et al. (2026) conducted an editorial in Homozygous familial hypercholesterolemia (HoFH) and premature myocardial infarction (n=1). Multimodality imaging, surgical repair, and advanced lipid-lowering therapies was evaluated. Homozygous familial hypercholesterolemia can present as severe atherosclerosis and myocardial infarction by age 20, requiring early multimodality assessment and LDL-receptor independent therapy.

synapsesocial.com/papers/6ad0fce415427f6a8404035c https://doi.org/10.1016/j.jaccas.2026.109787

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When Cholesterol Can Kill at 20

Key Points

PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

When Cholesterol Can Kill at 20

Key Points

PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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