Familial Hyperlipidemia (FH) affects ~1 in 250 people and carries a 10–20× higher risk of premature CVD1. Missed frequently & standard risk calculators underestimate risk.
Suspect FH with LDL‑C ≥5.0 mmol/L (≥4.0 on treatment), total cholesterol ≥7.5 mmol/L, premature CVD in the patient or family (men < 55; women < 60), arcus senilis, tendon xanthoma, xanthelasma.
Rule out secondary causes: steroids, antipsychotics, immunosuppressants, antiretrovirals. If suspected, check the criteria for lipid testing; if positive, test family members (cascade testing)2.
Treat FH with statins to lower LDL-C to 1.4 mmol/L; add ezetimibe if needed. The homozygous form (HoFH) is rarer and more severe, often causing childhood CVD, so start statins early.
Screening relatives should begin from age 5-10 years, or earlier if there is a family history of early MI and known gene positive.
