Endocrine

Question 1

Familial Hypercholesterolemia (Aetiology)

Answer 1

Autosomal dominant
Thought to affect 1 in 500 people

Question 2

Familial Hypercholesterolemia (Criteria)

Answer 2

Simon Broome Criteria
- Total cholesterol >7.5 + LDL-C >4.9 (adult)
- If definite FH: Tendon xanthoma in patients or 1st/2nd degree relatives or DNA evidence of FH
- If possible FH: Family Hx of myocardial infarction below age 50 in 2nd degree relative, below 60 in 1st degree relative, or family Hx of raised cholesterol levels

Question 3

Familial hypercholesterolemia (Mx)

Answer 3

High dose statins (First line)
First degree relatives -> Offer screening
*Statins should be discontinued in women 3 months prior to conception due to risk of congenital defects