GPAtlas🧭 When to suspect
Familial hypercholesterolaemia (FH) is a common, inherited (autosomal dominant) disorder of the LDL-receptor pathway that causes lifelong elevation of low-density lipoprotein cholesterol (LDL-C) from birth, regardless of lifestyle. It affects roughly 1 in 250 people, yet fewer than 1 in 7 are ever identified – making case-finding one of the highest-value tasks in primary care, because untreated FH carries a markedly raised risk of premature coronary heart disease (CHD).
The two core primary-care skills are: suspect it on the numbers and the family tree, and always exclude secondary causes before labelling someone with FH. Diagnosis is a clinical one (using validated criteria), confirmed by the specialist service through DNA testing – which then unlocks cascade testing of relatives.
| Group | Threshold that should prompt suspicion of FH |
|---|---|
| Adult | Total cholesterol (TC) > 7.5 mmol/L or LDL-C > 4.9 mmol/L; or a personal/family history of premature CHD (an event before 60 years in the patient or a first-degree relative) |
| Child / young person (< 16 years) | TC > 6.7 mmol/L or LDL-C > 4.0 mmol/L |
| Case-finding – search records, < 30 years | TC > 7.5 mmol/L |
| Case-finding – search records, ≥ 30 years | TC > 9.0 mmol/L (the group at highest risk of FH) |
| Suspect homozygous FH | LDL-C > 13 mmol/L (adult) or > 11 mmol/L (child) – refer to a specialist centre |
Make the clinical diagnosis in primary care using the Simon Broome criteria or the Dutch Lipid Clinic Network (DLCN) score. Refer to a specialist FH service for DNA testing if the patient meets Simon Broome criteria for possible or definite FH, or has a DLCN score > 5.
| Simon Broome – Definite FH | Simon Broome – Possible FH |
|---|---|
|
• Cholesterol above threshold (adult TC > 7.5 or LDL-C > 4.9; child TC > 6.7 or LDL-C > 4.0), pre-treatment or highest on treatment • plus tendon xanthomata in the patient or a first-/second-degree relative, or DNA evidence of an LDL-receptor, apolipoprotein B-100 or PCSK9 mutation |
• The same cholesterol threshold • plus a family history of myocardial infarction (MI) before 50 in a second-degree, or before 60 in a first-degree relative • or a family history of raised cholesterol (> 7.5 adult / > 6.7 child) in a first-/second-degree relative |
Source: NICE CG71
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