Diagnoses Familial Hypercholesterolaemia (FH). Score > 8 = Definite FH. Use untreated LDL-C (×1.43 if on moderate statin, ×1.67 if high-intensity).
Family History
Clinical History
Physical Examination
LDL-C (Untreated mmol/L)
DNA Analysis
Guidelines & Evidence
Clinical Details
Section 1
When to Use
When to Use
Diagnosing Familial Hypercholesterolaemia (FH) in adults presenting with elevated LDL-C.
Triage before genetic testing — DLCN score of Definite or Probable FH should trigger cascade testing of family members.
Endorsed by EAS, ESC, NICE (UK), Heart UK, and FH Foundation as the primary adult FH diagnostic score.
Applicable in primary care and lipid clinic settings; requires family history, clinical features, and fasting lipid profile.
Section 2
Formula & Logic
Scoring Criteria
Criterion
Points
FAMILY HISTORY
1st degree relative with premature CVD or LDL-C ≥ 95th percentile
1
1st degree relative with tendon xanthoma or corneal arcus, OR child < 18yr with LDL-C ≥ 95th percentile
2
CLINICAL HISTORY
Personal premature CAD (men < 55yr, women < 60yr)
2
Personal premature cerebrovascular or peripheral vascular disease
1
PHYSICAL EXAMINATION
Tendon xanthoma
6
Corneal arcus (< 45 years old)
4
LDL-C (mmol/L) — without treatment
LDL-C ≥ 8.5
8
LDL-C 6.5–8.4
5
LDL-C 5.0–6.4
3
LDL-C 4.0–4.9
1
DNA ANALYSIS
Functional LDLR, APOB, or PCSK9 pathogenic variant
8
Classification
DLCN Score
FH Diagnosis
> 8
Definite FH
6–8
Probable FH
3–5
Possible FH
≤ 2
Unlikely FH
Section 3
Pearls/Pitfalls
Key Pearls
Use untreated LDL-C — if patient is on statins, estimate pre-treatment LDL-C (multiply current LDL by 1.43 for moderate-intensity, ×1.67 for high-intensity statin).
Tendon xanthoma scores 6 points — often the single most discriminating physical sign; examine Achilles tendons carefully.
Genetic testing (LDLR, APOB, PCSK9 trio) is positive in ~80% of Definite/Probable FH; 20% are phenotypic FH without identified variant.
Cascade screening: All 1st degree relatives of confirmed FH cases should be offered testing — each has a 50% a priori risk.
LDL Treatment Target
ESC/EAS 2019: FH patients are high or very-high CVD risk by definition. Target LDL-C < 1.8 mmol/L (< 70 mg/dL) with ≥ 50% reduction from baseline. Most will require high-intensity statin + ezetimibe ± PCSK9 inhibitor.
All confirmed FH cases: PCSK9 inhibitor prescription if LDL-C ≥ 3.5 mmol/L on maximally tolerated statin + ezetimibe (NICE TA394/TA385).
04
Paediatric cascade: If parent is DLCN ≥ 6 or confirmed mutation carrier, test children at age 2–10.
Section 5
Evidence Appraisal
Primary Reference
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease
Nordestgaard BG et al. • European Heart Journal. 2013;34(45): 3478–3490
Section 6
Literature
Development
Developed by the Dutch FH network (Stichting Opsporing Erfelijke Hypercholesterolaemie, or STOEH) in the Netherlands in the 1990s as part of one of the world's first national cascade screening programmes for familial hypercholesterolaemia. Originally designed to prioritise patients for LDL receptor gene testing before genetic testing was widely available.
International Adoption
Endorsed by the European Atherosclerosis Society (EAS) Consensus Panel (2013) and incorporated into ESC/EAS dyslipidaemia guidelines (2019, 2021). It remains the dominant adult FH diagnostic criteria worldwide, alongside Simon Broome Criteria (UK) and MEDPED (USA). Detection of FH remains critically low globally — estimated to affect 1 in 250 individuals but < 10% are diagnosed.
