Familial Hypercholesterolemia

Question 1

What is FH and how common is FH?

Answer 1

Inherited lipid disorder with dominant inheritance

1 in 500 in the general population

More common in Mediterranean, Lebanese, South African (Afrikaners)

Question 2

What are secondary causes of high lipids?

Answer 2

Diet
Alcohol

Diabetes
Hypothyroidism

Nephrotic syndrome

Cholestasis

Steroid Use

Question 3

What are some of the clinical signs of FH?

Answer 3

Tendon Xanthomata
Corneal Arcus
Xanthelasma Palpebrarum

Question 4

What is the management approach to FH.

Answer 4

1/ assess low, medium, high complexity (specialist input should be included)
2/ investigate for other cardiac risk factors e.g. T2DM/HTN
3/Screen for existing coronary artery disease, angiography is controversial
4/ Discuss the legal and ethical implications of cascade screening

Question 5

What is the target of lipid lowering treatment?

Answer 5

LDL Target for FH patients

• without CVD <2.5mmol/L
• with CVD <1.8mmol/L

Question 6

When should FH suspected?

Answer 6

As recommended in the RACGP Red book:

• Those with LDL-C >4.0 OR
• Total cholesterol >7.5 should be reviewed for family history and clinical features of FH

Question 7

What is the chance of CAD in men and women that have untreated FH?

Answer 7

Untreated men–> 50% chance of coronary heart disease before 50yrs
Untreated men –> 30% before the age 60 years

(ref: Detecting familial hypercholesterolaemia in general practice)

Question 8

What is the tool that can be used to assess risk for FH?

Answer 8

The Dutch Lipid Network Score can be used to evaluate the likelihood of FH