FH referral guidelines - Newcastle Hospitals NHS Foundation Trust

The following GP guidelines for referral of patients to secondary care for investigation of possible Familial Hypercholesterolaemia (FH) are taken from the Simon Broome criteria as shown in FATS4.

What should we do in Primary Care?

Identify those individuals with a personal or family history of premature coronary heart disease or particularly high cholesterol level. Perform a lipid profile on these individuals (ideally fasting).

In individuals found to have significantly elevated LDL or total cholesterol:

Perform basic tests to exclude diabetes, hypothyroidism, hepatic and renal disease.
Manage blood pressure and other risk factors aggressively, and give advice regarding smoking, weight loss, diet, exercise and alcohol intake, where appropriate.
Consider referral to a lipid clinic, so the diagnosis of FH can be confirmed using molecular genetic testing, and cascade testing can be offered to other family members.
Use the guidelines below to identify which patients should be referred to the lipid clinic.

GP guidelines for referral of patients for investigation of possible Familial Hypercholesterolaemia

Highest total cholesterol >7
Highest LDL cholesterol >4.9
Total cholesterol >7.5 in 1st or 2nd degree relative
Tendon Xanthoma in patient or 1st or 2nd degree relative
MI < 60yrs in 1st or <50yrs in 2nd degree relative

Referral is recommended if answers are ‘yes’ to:

(1 and/or 2) plus (3 or 4 or 5)

Note

Below 16 years the corresponding cut-offs are total cholesterol >6.7 mmol/L, LDL-C >3.9 mmol/L
These guidelines should not be used to decide on referral of relatives of known cases of Familial Hypercholesterolaemia. First degree relatives have a 50% pre-test probability of being affected, and lower cholesterol cut-offs apply.
Total cholesterol cut-offs are valid fasting or non-fasting. LDL cut-offs are more accurate but require a fasting sample.
Tendon Xanthomata or diagnostic DNA mutation are required to diagnose definite FH.

Management

Management of individuals with FH involves reducing cholesterol levels using statins (with or without ezetimibe), or bile acid sequestrants or nicotinic acid, if statins are not tolerated. Other cardiac risk factors such as hypertension, smoking and obesity should be minimised.
In women with FH, the Combined Oral Contraceptive is not generally contraindicated but other forms of contraception should be considered first. Lipid-modifying medication should be stopped 3 months before trying to conceive, because of the potential risk of teratogenesis.