Lipid profile & familial hyperlipidaemias
What it means
Heterozygous familial hypercholesterolaemia (FH) — autosomal-dominant LDL-receptor defect (~1 in 250): isolated very high total/LDL cholesterol (often >7.5), near-normal triglycerides, tendon xanthomata, premature CAD / family history of early MI. Familial combined hyperlipidaemia: ↑cholesterol AND ↑triglycerides. Severe hypertriglyceridaemia / chylomicronaemia: TG >10 → pancreatitis + eruptive xanthomata. Primary prevention: QRISK ≥10% → atorvastatin 20 mg; FH is treated regardless of QRISK.
Worked example
A 41-year-old with an MI, cholesterol 9.2, near-normal triglycerides and a father who died of MI at 52 → heterozygous familial hypercholesterolaemia.
In the exam
A 41-year-old man with an acute MI has cholesterol 9.2, triglycerides 1.9 and a father who died of a myocardial infarction aged 52.
What settles it
Isolated very high cholesterol + premature CAD + family history = heterozygous FH; ↑cholesterol AND ↑triglycerides = familial combined.
Source: NICE CG71 (FH); NICE CG181 (lipids)