US (MEDPED) Diagnostic Criteria for Familial Hypercholesterolemia (FH)

Management of FH should be based on current guideline recommendations and should include considerations for lifestyle intervention, lipid lowering therapy with statins, and escalation to nonstatin lipid-lowering therapy if LDL-C remains elevated.

If criteria are met: 

• Evaluate for secondary causes of hypercholesterolemia.
• Assess ASCVD history and risk.
• Encourage lifestyle modifications.
• Initiate or intensify lipid-lowering therapy according to current guidelines.
• Consider referral to a lipid specialist. 
• Consider screening relatives. 
• Genetic testing may be helpful when available, particularly for confirmation and family screening, but FH remains a clinical diagnosis in many settings.

If criteria are not met:

• FH should not be ruled out when clinical suspicion remains high.
• Consider alternative criteria such as Dutch Lipid Clinic Network or Simon Broome, lipid specialist referral, and/or genetic testing when available.