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Familial Hypercholesterolaemia

 


Familial hypercholesterolaemia (FH) is the most common inherited metabolic disease. The two main genetic forms are: heterozygous (prevalence 1 in 250 - 300) and homozygous (prevalance 1 in 350, 000 - 750,000). This means ~250,000 - 270,000 people in the UK have FH, but less than 8% have currently been identified.


It is characterised by lifelong elevation of LDL-cholesterol and a substantially increased risk of premature cardiovascular disease. Early identification and treatment are essential.


FH may be detected through a known family history and genetic cascade screening, or through markedly elevated cholesterol levels, often with a personal or family history of premature cardiovascular disease.


The RCHT lipid team have summarised the investigation and management of FH in the high cholesterol management section of the adult lipid guidelines available here. The key points from this guidance are below:


 

Patient with confirmed genetic family history of Familial Hypercholesterolaemia

Referral Instructions

  • All patients with a 1st, 2nd or 3rd degree relative with a GENETICALLY confirmed diagnosis of FH should be referred to the lipid clinic regardless of lipid profile
  • The presence of a mutation for FH does not determine the degree of hyperlipidaemia

 

Information Required with Referral

  • Confirm relative has a genetic diagnosis of FH (many may actually have a clinical diagnosis using Simon Broome rather than a genetic diagnosis)
  • A copy of the relatives genetic test report (with consent)

OR

  • The relatives’ name, date of birth, NHS number and postcode or name of the lipid service that organised their genetic test (with consent)

 

For queries submit A&G


 

Suspected familial hypercholesteremia based on clinical history or lipid profile

Consider familial hypercholesteremia if any of the following

  • Total Cholesterol if (TC) > 7.5
  • LDL-C >4.9
  • non-HDL-C >5.9, 
  • A personal and/or family history of confirmed CHD <60

 

  1. Repeat a FASTING lipid sample and check for secondary causes:
    • U+Es, LFTs, TSH, HBA1C
    • Consider Lp(a) and measure if meets criteria on Lp(a) page
  2. Calculate Simon Broome and Dutch Criteria for familial hypercholesterolemia  
  3. Follow the high cholesterol management pathway in the adult lipid management document here.

 

The key points in management and referral from this pathway are summarised below
 


Primary Prevention

Primary Care Management

  • Do not delay starting primary prevention (link) treatment while awaiting assessment
  • Lipid target: if confirmed FH aim for
    • At least 50% reduction in baseline LDLc
    • Unless also have raised Lp(a) - then consider treating to secondary prevention targets

 

Referral instructions

Refer to lipid clinic for consideration of genetic testing if:

OR

OR

  • TC >9, OR, LDLc >6.5, OR non-HDLc >7.5

 

SEE REFERRAL INSTRUCTIONS AND FH QUESTIONNAIRE BELOW

 

Secondary prevention

Primary Care management

  • Follow secondary prevention (link) management and lipid targets. Do not wait to start treatment prior to referral

 

Referral Instructions

Refer to lipid clinic for consideration of genetic testing if:

OR

 

SEE REFERRAL INSTRUCTIONS AND FH QUESTIONNAIRE BELOW

 

Refer to lipid clinic for consideration of PCSK9i if lipid targets are not achieved with treatments available in primary care as per secondary prevention guidelines  

 

Information required with referral (for suspected FH based on clinical history or lipid profile)

 

Advice & Guidance

There is a Lipid Advice & Guidance service available for complex or unclear cases

 

Patient information

 

References

 

Page Review Information

Review date:           27 March 2026
Next review date:    27 March 2028
Clinical editors:        Dr Jack Munro Berry
Contributors:           Dr Rachel Cooper – Consultant Clinical Biochemist