Diagnosing familial hypercholesterolaemia (guidelines)

Familial hypercholesterolaemia causes a lifelong elevation of cholesterol, whatever the lifestyle, and hence the increased risk of cardiovascular disease eg. MI, CVA, PAD.

• If a patient has previously had lower cholesterol results (and was not on treatment at the time): it is unlikely to be familial hypercholesterolaemia and other causes for the newly raised cholesterol should be considered, eg, hypothyroidism.
• Patients under 16 years old: LDL cholesterol cut off is 4.0 mmol/L.
  • Paediatric familial hypercholesterolaemia is managed by centrally commissioned paediatric inherited metabolic medicine service.
  • Contact lipid clinic for more details, if required.
• If LDL cholesterol results are not available or triglyceride results are too high to allow calculation: use total cholesterol greater than 7.5 mmol/L (16 years or older) or 6.7 mmol/L (under 16 years).
• Tendon xanthomas are rarely seen but if a patient has them or reports their relative does, and the patient’s LDL cholesterol is greater than 4.9 mmol/L: then they should be referred to the lipid clinic.

• If family members are outwith NHS Highland: the patient will be given letters to pass to their family members to allow local cascade testing for familial hypercholesterolaemia.
• Patients who are relatives of known familial hypercholesterolaemia patients (and have not had cascade genetic testing for whatever reason): should not have the same criteria applied but should all be referred to the lipid clinic for consideration for genetic testing.

• Referral to the Lipid clinic is via SCI Gateway

• NICE Clinical Knowledge Summary on familial hypercholesterolaemia:  https://cks.nice.org.uk/topics/hypercholesterolaemia-familial/
• Familial hypercholesterolaemia: identification and management clinical guideline CG71: https://www.nice.org.uk/guidance/cg71

• Heart UK: https://www.heartuk.org.uk/
• British Heart Foundation https://www.bhf.org.uk/