What is familial hypercholesterolemia and should I worry about my family history?

Familial hypercholesterolemia (FH) is an autosomal dominant genetic condition causing severely elevated LDL-C (typically above 190 mg/dL untreated) from birth due to mutations in the LDL receptor, APOB, or PCSK9 genes, affecting approximately 1 in 200–250 people, and requires aggressive, lifelong lipid-lowering therapy starting in childhood; it is severely underdiagnosed, with an estimated 90% of FH patients undiagnosed in the US (Nordestgaard et al., Eur Heart J, 2013).

The clinical red flags for FH: LDL-C consistently above 190 mg/dL, family history of heart attacks before age 55 in men or age 65 in women (first-degree relatives), physical findings of xanthomas (cholesterol deposits in tendons), or corneal arcus before age 45. Men who discover a first-degree relative had a heart attack at 45 should request a lipid panel with ApoB and Lp(a) immediately, FH in the family means FH risk in them.

Honesty Scale: Solid (1) for FH prevalence, diagnosis criteria, and management requirements.

What to do: If any first-degree relative had a heart attack or cardiac event before age 55 (male) or 65 (female), request a fasting lipid panel with ApoB, and tell your physician about the family history explicitly. FH genetic testing is available if clinical criteria are met.

For the full picture, read The ApoB/Lp(a)/Lipids Deep Dive