Familial hypercholesterolaemia (FH)
Useful videos and information for understanding, diagnosing and treating FH
This video, created by FH specialist nurses, will show you how to take an accurate mouth swab when you're sending off DNA for genetic testing.
Practical steps you can take to tackle FH
FH affects around 1 in 250 people in the UK. Because it causes very high cholesterol, it can lead to premature coronary heart disease. Here are some practical steps you can take to tackle FH in your practice:
- Review all patients with a clinical diagnosis of FH. Have they been genetically confirmed? If not, check against diagnostic criteria and refer to your local lipid clinic for genetic testing.
- Review all patients who have ever had a total cholesterol above 9mmol/l. If they don't already have a diagnosis of FH, refer to your local lipid clinic after excluding secondary causes, listed below.
- Review all patients who have ever had a total cholesterol above 7.5mmol/l. Assess patients against diagnostic criteria after excluding secondary causes, listed below.
Read about the new pilot screening programme to identify children with FH.
Secondary causes of high cholesterol to rule out
- Anti-retroviral drugs
- Oral oestrogen
Health and other conditions
- Undiagnosed or poorly controlled Type 2 diabetes
- Chronic kidney disease
- Nephrotic syndrome
Prescription charges for FH
HEART UK would like to see an exemption from prescription charges for Familial Hypercholesterolaemia, in a similar that other medical conditions have. This may be unlikely,, but we will keep the conversation going. In the meantime, people with FH can consider asking their GP to prescribe three months worth of medication for one prescription, once they are on a stable medication dose with well controlled LDL cholesterol levels. There may also be pre-payment options available.
Genetic testing in the UK
Genetic testing can be used to diagnose FH. Our patient pages include some information on diagnosing FH, including the diagnostic criteria and genetic testing. Here you can find details on where it's available in the UK.
Genetic testing for FH is available on the NHS throughout England. It's provided through the NHS Genomic Medicine Service, as outlined in the National Genomic Test Directory.
Testing is provided by the national genomic testing network of seven Genomic Laboratory Hubs (GLHs). Each GLH works with the lipid clinics or specialist centres in their region to communicate the local pathways. To access this testing, GPs and other healthcare professionals should refer eligible patients with a possible or probable diagnosis of FH to a specialist with expertise in FH to confirm the diagnosis and start family cascade testing as appropriate. If local lipid clinics or specialist centres require further information about the arrangements for genomic testing within their region, they should contact their local GLH.
Find further information about the NHS GMS on the NHS website.
FH genetic testing in Scotland is available for all patients who meet the Simon Broome or Dutch criteria, with testing done in Aberdeen. Most of the requests come from secondary care lipid clinic specialists and their teams, but appropriate requests are accepted from GPs, Cardiology, paediatricians, metabolic doctors and other relevant specialists. The route for people in Scotland is to ask their GP to refer them to their local lipid clinic for evaluation.
FH genetic testing has been routinely offered since 2010 and is funded entirely by central commissioning following agreement from the Welsh Government. Most tests are facilitated by a lipid clinic with triage referrals direct to the FH nurse if appropriate. All requests require a clinical proforma, documented consent and inclusion of the 'phenotype score'.
If the score is 6 or over and the information is complete the lab will process these. If this is not met, then the request is sent to the FH service medical lead for review.
In practice, nearly all requests are made by an FH nurse. The FH nurse will see patients virtually, in primary or secondary care and occasionally at home. This process does take some time and most clinicians would ask the FH nurse to carry out testing.
Testing for FH in Northern Ireland is available for all patients who score 6 or above using a locally modified version of the (Dutch/Welsh phenotype criteria), or at the request of a relevant consultant.
The majority of requests come from clinicians at lipid or metabolic clinics, but referral pathways also exist for GPs, Cardiac Rehabilitation clinics, and Outreach projects (such as "Farm Families"), much of which is in collaboration with the FH Nurse team. Cascade/family testing is primarily via the FH nurses.
FH and the armed forces
There has been a recent change in policy for people with FH who wish to join the armed forces. Now, those with FH who have had high cholesterol levels in the past and are now being treated with cholesterol-lowering medication such as a statin will be referred to SSMES and then reviewed by either a cardiologist or lipid specialist.
Those who are taking a statin should have a stable medication history for six months. They should also have a normal exercise tolerance whilst carrying out exercise which is compatible with military training requirements for at least the last 3 months without symptoms (such as unusual muscle pain or fatigue). If acceptable for entry they are FIT with an E2 marker for annual medical review.
This information applies to all armed forces but it does not guarantee acceptance, as deployment can be limited by medical treatment needs and certain roles require people to be 'medically fully deployable'. People who have uncontrolled/untreated high cholesterol levels will still be considered unfit for duty/entry into the forces due to their increased risk of morbidity associated with their condition i.e. premature coronary heart disease.
Useful statements and reports on FH
Current management of children and young people with heterozygous FH
This consensus statement includes lifestyle and dietary advice suitable for children, suggested LDL cholesterol targets, and the most appropriate lipid-lowering therapies.
Management of homozygous FH in the UK
This consensus statement addresses the three main treatments for HoFH: pharmacotherapy, lipoprotein apheresis and liver transplantation.