Familial Hypercholesterolaemia

Question 1

What is the inheritance of FH?

Answer 1

Autosomal dominant

Question 2

FH affects 1 in ? people.

Answer 2

1 in 500

Question 3

What happens in FH?

Answer 3

High levels of LDL-cholesterol which can cause CVD.

Question 4

How is the clinical diagnosis made?

Answer 4

Using the Simon Broome Criteria.

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

Question 5

Can you use Qrisk or Framingham in FH?

Answer 5

No. It doesn’t apply.

Question 6

How is FH managed?

Answer 6

• Referral to a specialist lipid clinic is usually required
• The maximum dose of potent statins are usually required

Question 7

If a woman is taking a statin, what should you advise them regarding pregnancy?

Answer 7

Statins should be discontinued in women 3 months before conception due to the risk of congenital defects

Question 8

At what age should family members be screened for FH?

(It is AD inheritance)

Answer 8

• 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