Heterozygous familial hypercholesterolaemia is autosomal dominant, so each first-degree relative of an affected person has a one-in-two chance of carrying it. Cascade testing — checking lipids, and genetics where available, in parents, siblings and children — finds more cases per test than any population strategy.
In adults, suspect FH with untreated LDL-C above about 4.9 mmol/L (190 mg/dL), tendon xanthomas, or premature coronary disease in the patient or a first-degree relative. Use a recognised scoring system such as the Dutch Lipid Clinic Network criteria.
- Each first-degree relative of a person with FH has a 50% chance of carrying it.
- Check lipids in the children, siblings and parents of every patient diagnosed with FH.
- Suspect FH with untreated LDL-C above about 4.9 mmol/L or premature coronary disease in the family.
- Use the Dutch Lipid Clinic Network score to grade the clinical diagnosis.
Why it matters
Most people with FH are undiagnosed, and the cheapest way to find them is through a relative already known.
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