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Familial Hypercholesterolaemia

Learn more about familial hypercholesterolaemia.

Familial Hypercholesterolaemia (F.H) is a good example of a genetic condition that helps us understand basic genetic concepts.

To help us, National Institute for Health and Care Excellence guidelines exist supporting recognition, criteria for diagnosis, and treatment. When applied in clinical practice we also use our generalist skills, family history skills, and clinical examination to make a diagnosis.

Health promotion and managing co-morbidity are important facets of management. We also recognise the roles of specialist services to facilitate genetic testing and cascade testing to identify family members who are at risk. (Cascade testing will be discussed in more detail in a later step.)

FH affects 1 in 250 people in the UK, equating to 260,000 people, the majority of whom are as yet undiagnosed. The natural history of the untreated condition is bleak and can lead to a greater than 50% risk of CHD in men by age 50 years and above, and 30% in women by age 60 years. It illustrates the point that an inherited condition may affect significant numbers of the undiagnosed at-risk populations.

There are criteria that aid in giving a clinical diagnosis of ‘definite’ or ‘possible’ FH, and in identifying patients in whom a genomic test may be indicated for diagnosis: Simon Broome criteria and Dutch lipid clinic criteria.

Suspecting FH:

  • Cholesterol > 7.5mmol or LDL. 4.9mmol/l in adults
  • Cholesterol > 6.7mmol/l or LDL > 4.0mmol/l if < 16 years
  • Family history of early CHD
  • Deposition of cholesterol leads to Tendon Xanthoma, Corneal arcus, Xanthelasma.
  • Elevated concentration of LDL cholesterol, from early childhood.
  • NICE also recommends using criteria from the Dutch lipid Clinic network (Coronary heart disease risk estimation tools should not be used because FH-affected individuals are already at high risk of premature coronary heart disease).

You can read more in this guide to Familial Hypercholesterolaemia provided by Health Education England’s Genomics Education Programme.

It is important that GPs recognise they should have a low threshold of suspicion for FH (based on a high total cholesterol value) and then recall the patient to obtain more detailed family history information and clinical examination. If this does not support the FH diagnosis they should manage CVD risk themselves. If it does support the diagnosis they should refer to a lipid clinic for confirmation of the diagnosis (or not) which will include a DNA test and if positive then cascade testing.

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