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Home · Familial hypercholesterolaemia

Condition · Lipids and prevention

Familial hypercholesterolaemia

Familial hypercholesterolaemia (FH) is an inherited condition that causes very high LDL cholesterol from birth and early heart disease if untreated. It affects about one in 250 Australians, most of whom have never been diagnosed. With treatment, risk returns close to normal.

Reviewed by A/Prof Johan Verjans, Cardiologist · Updated September 2026

Who should be assessed for FH

  • Adults with an LDL cholesterol above 5 mmol/L, or above 4 mmol/L before treatment with a family history of high cholesterol
  • Anyone who had a heart attack, stent or bypass before 60 (men) or 65 (women), or whose parent or sibling did
  • Children of a parent with known FH
  • People with tendon xanthomas (cholesterol deposits on the Achilles or knuckle tendons) or a corneal arcus before 45

Diagnosis uses the Dutch Lipid Clinic Network criteria, which combine cholesterol level, family history, examination and, where available, genetic testing. A genetic test for the LDLR, APOB and PCSK9 genes confirms the diagnosis in most cases and makes screening relatives straightforward; Medicare funds testing when criteria are met.

Why early treatment matters

Cholesterol damage accumulates over a lifetime. Someone with FH has been exposed to a doubled LDL level since childhood, which is why untreated men with FH have about a 50 per cent chance of a heart attack by age 50 and women by 60. Starting treatment early, ideally before 40, prevents most of that risk.

How we treat it

  • High-intensity statin as the foundation, with a target LDL usually below 1.8 mmol/L, or below 1.4 mmol/L if there is already coronary disease
  • Ezetimibe added when a statin alone is not enough
  • PCSK9 inhibitors (evolocumab, alirocumab) or inclisiran, injectable treatments that lower LDL by a further 50 to 60 per cent, PBS-subsidised for FH when criteria are met
  • Assessment of lipoprotein(a), a separate inherited risk factor measured once
  • Blood pressure, diabetes, smoking and weight addressed alongside cholesterol

Imaging to guide treatment

A coronary calcium score or CT coronary angiogram on photon-counting CT shows whether plaque has already formed, which sets how aggressively cholesterol is treated and whether aspirin is warranted. A bulk-billed echocardiogram checks the aortic valve, which can be affected in severe FH.

Family screening

Each child, sibling and parent of a person with FH has a 50 per cent chance of carrying it. Cascade screening, testing relatives once an index patient is found, is the most effective way to find undiagnosed FH. We provide a letter for relatives to take to their own GP and can see family members from age 10 upward through paediatric colleagues where appropriate. The FH Australasia Network registry supports families across state borders.

Making an appointment

Ask your GP for a referral noting your highest LDL level and family history. Bring previous cholesterol results and, if available, results from relatives. Call (08) 7089 9533.

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