Dutch Criteria for Familial Hypercholesterolemia (FH)
Diagnoses familial hypercholesterolemia (FH) based on clinical, genetic and family history.
Use in adults with suspected familial hypercholesterolemia (FH).
Advice
- Always use untreated LDL-C values when possible.
- Consider genetic testing for all patients scoring ≥3 points, especially those with probable or definite FH.
- Document physical examination carefully for tendon xanthomas (especially Achilles tendons, extensor tendons of hands) and corneal arcus.
- Obtain detailed family history including ages of cardiovascular events and cholesterol levels in relatives.
- For cascade screening of relatives, use LDL-C thresholds validated against FH mutations rather than full DLCN criteria.
Management
Once FH is diagnosed using DLCN criteria (probable or definite), manage patients according to most recent AHA/ESC/EAS guidelines.
The following LDL-C target goals should be considered within individual clinical contexts:
- Patients without ASCVD: LDL-C <70 mg/dL (<1.8 mmol/L) for.
- Patients with established ASCVD: LDL-C <55 mg/dL (<1.4 mmol/L).
Pharmacologic Options
- First-line: Consider high-intensity statin (rosuvastatin 40 mg or atorvastatin 80 mg daily) - reduces LDL-C by 50-60%.
- Second-line: Consider adding ezetimibe 10 mg daily - provides additional 15-25% LDL-C reduction.
- Third-line: Consider PCSK9 inhibitors (evolocumab 140 mg or alirocumab 75 mg subcutaneously every 2 weeks) - additional 50-60% reduction.
- Alternative agents include inclisiran (284 mg subcutaneously twice yearly), bempedoic acid (180 mg daily), among others.
Lifestyle Modifications
- Saturated fat <7% of total calories.
- ≥150 minutes/week moderate-intensity aerobic activity.
- Weight management.
Critical Actions
- Exclude secondary causes of hypercholesterolemia before diagnosing FH (hypothyroidism, nephrotic syndrome, obstructive liver disease).
- Initiate high-intensity statin therapy promptly - earlier treatment provides greater lifetime benefit due to cumulative LDL exposure.
- Pursue genetic testing for probable/definite FH to confirm diagnosis and enable cascade screening.
- Screen first-degree relatives - 50% will have FH if index case is confirmed.
- Measure Lp(a) to identify patients with combined risk and avoid misclassification. Elevated Lp(a) can mimic FH phenotype.
- Escalate therapy if LDL-C goals not met with statin + ezetimibe - most FH patients require combination therapy.
- Monitor for ASCVD with appropriate risk assessment and imaging when indicated.