Familial Hypercholesterolaemia

Case finding:

• NICE suggest that we should suspect FH as a possible diagnosis in adults with:
  • a total cholesterol level greater than 7.5 mmol/l and/or
  • a personal or family history of premature coronary heart disease (an event before 60 years in an index individual or first-degree relative)
• children of affected parents:
  • if one parent is affected by familial hypercholesterolaemia, arrange testing in children by age 10
  • if both parents are affected by familial hypercholesterolaemia, arrange testing in children by age 5

Clinical diagnosis is now based on the Simon Broome criteria:

• in adults total cholesterol (TC) > 7.5 mmol/l and LDL-C > 4.9 mmol/l or children TC > 6.7 mmol/l and LDL-C > 4.0 mmol/l, plus:
• for definite FH: tendon xanthoma in patients or 1st or 2nd degree relatives or DNA-based evidence of FH
• for possible FH: family history of myocardial infarction below age 50 years in 2nd degree relative, below age 60 in 1st degree relative, or a family history of raised cholesterol levels

Management

• the use of CVD risk estimation using standard tables is not appropriate in FH as they do not accurately reflect the risk of CVD
• referral to a specialist lipid clinic is usually required
• high-dose statins are usually used first-line
• first-degree relatives have a 50% chance of having the disorder and should therefore be offered screening. This includes children who should be screened by the age of 10 years if there is one affected parent
• statins should be discontinued in women 3 months before conception due to the risk of congenital defects

Primary prevention - who and how to assess risk

A systematic strategy should be used to identify people aged over 40 years who are likely to be at high risk of cardiovascular disease (CVD), defined as a 10-year risk of

10%

or greater.

NICE recommend we use the QRISK2 CVD risk assessment tool for patients aged <= 84 years. Patients >= 85 years are at high risk of CVD due to their age. QRISK2 should not be used in the following situations as there are more specific guidelines for these patient groups: