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ClearRounds Health · Cardiology · Quick Reference
Familial Hypercholesterolemia
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Prevention & Risk ReductionIntermediateAvailableOne-page PDF
When to suspect FH, diagnostic clues, family screening, LDL thresholds, and escalation pathway.
Last reviewed
July 17, 2026
Sources / guidelines to verify
- 2026 ACC/AHA/Multisociety Dyslipidemia Guideline (severe hypercholesterolemia / FH)
- Dutch Lipid Clinic Network / Simon Broome criteria
Disclaimer: Educational reference only. Not a substitute for clinician judgment, local protocols, or current guideline review.
One-page reference
Clinically reviewed by the site owner. Still verify against the sources above and local protocol before clinical use.
1
What it is / why it matters
- Genetic disorder causing severe LDL elevation from birth → premature ASCVD.
- Heterozygous FH is common (~1:250); homozygous FH is rare and severe.
- High-risk by definition — don’t wait for a 10-year risk calculation.
2
Key diagnostic clues
- Untreated LDL ≥190 mg/dL (adult) or ≥160 mg/dL (child).
- Premature CAD — personal or family history (men <55, women <65).
- Tendon xanthomas, corneal arcus before age 45, xanthelasma.
- Strong family clustering of high cholesterol / early events.
3
Initial workup
- Fasting lipids; exclude secondary causes (hypothyroidism, nephrotic syndrome, cholestasis).
- Apply clinical criteria (Dutch Lipid Clinic Network or Simon Broome); consider genetic testing.
- Measure Lp(a) once.
4
Management framework
- High-intensity statin early; add ezetimibe, then PCSK9 inhibitor / inclisiran to reach goal.
- Targets: ≥50% LDL reduction and LDL <70 (FH is high-risk by definition); <55 with ASCVD or very-high-risk features.
- Refer homozygous FH to a lipid specialist (apheresis, evinacumab, lomitapide).
5
Red flags / escalate now
- Homozygous FH (LDL often >400, childhood ASCVD) → urgent specialist referral.
- Established premature ASCVD or very high Lp(a).
6
Follow-up / monitoring
- Track LDL response and adherence.
- Cascade-screen all first-degree relatives — including children.
7
Clinic pearls
- Cascade family screening is the highest-yield action you can take.
- FH is high-risk by definition — treat aggressively and early.
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